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HLA-DRB1 Gene

protein-coding   GIFtS: 65
GCID: GC06M032546

Major Histocompatibility Complex, Class II, DR Beta 1


(Previous symbol: HLA-DR1B)
  See HLA-DRB1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Major Histocompatibility Complex, Class II, DR Beta 11 2     DR133
HLA-DR1B1 2     DR143
DRw102 3     DR163
DW2.2/DR2.22 3     DR43
SS12 5     DR53
DRB12     DR73
HLA-DRB2     DR83
HLA Class II Histocompatibility Antigen, DR-1 Beta Chain2     DR93
Human Leucocyte Antigen DRB12     DRw113
Lymphocyte Antigen DRB12     DRw83
MHC Class II Antigen2     HLA-DRB23
MHC Class II HLA-DR Beta 1 Chain2     Clone P2-Beta-33
MHC Class II HLA-DR-Beta Cell Surface Glycoprotein2     MHC Class II Antigen DRB1*13
MHC Class II HLA-DRw10-Beta2     MHC Class II Antigen DRB1*103
DR-13     MHC Class II Antigen DRB1*113
DR-123     MHC Class II Antigen DRB1*123
DR-133     MHC Class II Antigen DRB1*133
DR-143     MHC Class II Antigen DRB1*143
DR-163     MHC Class II Antigen DRB1*153
DR-43     MHC Class II Antigen DRB1*163
DR-53     MHC Class II Antigen DRB1*33
DR-73     MHC Class II Antigen DRB1*43
DR-83     MHC Class II Antigen DRB1*73
DR-93     MHC Class II Antigen DRB1*83
DR13     MHC Class II Antigen DRB1*93
DR123     

External Ids:    HGNC: 49481   Entrez Gene: 31232   Ensembl: ENSG000001961267   OMIM: 1428575   UniProtKB: P042293   
UniProtKB: P019123   UniProtKB: P137603   UniProtKB: P137613   UniProtKB: Q301343   UniProtKB: Q9TQE03   
UniProtKB: Q301673   UniProtKB: P200393   UniProtKB: Q95IE33   UniProtKB: Q5Y7A73   UniProtKB: Q9GIY33   
UniProtKB: P019113   UniProtKB: Q299743   

Export aliases for HLA-DRB1 gene to outside databases

Previous GC identifers: GC06U990049 GC06Md32547 GC06M032317 GC06Md32654 GC06M032656


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HLA-DRB1 Gene:
HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an
alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system
by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen
presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa.
It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular
domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule
the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1
alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney
transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is
present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4
and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. (provided by RefSeq, Jul 2008)

GeneCards Summary for HLA-DRB1 Gene:
HLA-DRB1 (major histocompatibility complex, class II, DR beta 1) is a protein-coding gene. Diseases associated with HLA-DRB1 include multiple sclerosis 1, and rhizomelic pseudopolyarthritis. GO annotations related to this gene include MHC class II receptor activity and peptide antigen binding. An important paralog of this gene is HLA-DRB5.

UniProtKB/Swiss-Prot: 2B11_HUMAN, P04229 (see all)
Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC)
and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates
peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation
of proteins that access the endocytic route, where they are processed by lysosomal proteases and other
hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous.
As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from
endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with
MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as
epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI
tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of
an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential
degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP
(class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the
regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
efficient peptide loading

Gene Wiki entry for HLA-DRB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NT_167245.2  NT_167246.2  NT_113891.3  NT_167248.2  NC_000006.11  NC_018917.2  NT_007592.16  NT_167249.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HLA-DRB1 gene promoter:
         HOXA3   AML1a   p53   CUTL1   CBF-C   YY1   CBF-B   CBF-A   CP1A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHLA-DRB1 promoter sequence
   Search Chromatin IP Primers for HLA-DRB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HLA-DRB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

HLA-DRB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HLA-DRB1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032546:  view genomic region     (about GC identifiers)

Start:
32,546,546 bp from pter      End:
32,557,625 bp from pter
Size:
11,080 bases      Orientation:
minus strand

4 alternative locations:
Chr6-,NT_167248 3,784,600-3,797,961      Chr6-,NT_167244 3,774,424-3,787,494      Chr6-,NT_113891.2 3,998,151-4,011,502     
Chr6-,NT_167249 3,978,426-3,993,112     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: 2B11_HUMAN, P04229 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DRB1-1 beta chain precursor  
Size: 266 amino acids; 29914 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Selected PDB 3D structures from and Proteopedia for HLA-DRB1 (see all 40):
1AQD (3D)        1DLH (3D)        1FYT (3D)        1HXY (3D)        1JWM (3D)        1JWS (3D)    
Secondary accessions: A4F5N0 A8K098 O62869 P13758 Q06662 Q30116 Q30117 Q5Y7E9 Q7M2H4 Q95461
Q9BCL7 Q9GIK5 Q9MXZ0 Q9MXZ5 Q9TQ91

UniProtKB/Swiss-Prot: 2B13_HUMAN, P01912 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-3 chain precursor  
Size: 266 amino acids; 30120 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
1 PDB 3D structure from and Proteopedia for HLA-DRB1:
1A6A (3D)    

UniProtKB/Swiss-Prot: 2B14_HUMAN, P13760 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-4 beta chain precursor  
Size: 266 amino acids; 30112 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Selected PDB 3D structures from and Proteopedia for HLA-DRB1 (see all 16):
1D5M (3D)        1D5X (3D)        1D5Z (3D)        1D6E (3D)        1J8H (3D)        2SEB (3D)    
Secondary accessions: O19717 O19739 P13759 Q29875 Q30145 Q9GIX9 Q9GIY4 Q9MY13 Q9XRY5

UniProtKB/Swiss-Prot: 2B17_HUMAN, P13761 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-7 beta chain precursor  
Size: 266 amino acids; 29822 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Secondary accessions: B0UYW1 O46699 O46872

UniProtKB/Swiss-Prot: 2B18_HUMAN, Q30134 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-8 beta chain precursor  
Size: 266 amino acids; 30004 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Secondary accessions: O19718 O19788 Q29968 Q30108 Q30115 Q9BCP0 Q9BCP1 Q9BCP2 Q9BD33 Q9TQ37
Q9UIM9

UniProtKB/Swiss-Prot: 2B19_HUMAN, Q9TQE0 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-9 beta chain precursor  
Size: 266 amino acids; 29826 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Secondary accessions: Q30149

UniProtKB/Swiss-Prot: 2B1A_HUMAN, Q30167 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-10 beta chain precursor  
Size: 266 amino acids; 30002 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Secondary accessions: P01914 Q9MYF5

UniProtKB/Swiss-Prot: 2B1B_HUMAN, P20039 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-11 beta chain precursor  
Size: 266 amino acids; 30160 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Secondary accessions: Q30006 Q9GIX8

UniProtKB/Swiss-Prot: 2B1C_HUMAN, Q95IE3 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-12 beta chain precursor  
Size: 266 amino acids; 29878 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Secondary accessions: A7LA26 B0LUZ6 B6VCX2 B7UDB2 O19585 Q19AF2 Q29771 Q2L9H4 Q2MZ92 Q5EER6
Q5NDB9 Q5UT58 Q5Y7G0 Q768U4 Q7YP04 Q861H8 Q95IT6 Q9BD40

UniProtKB/Swiss-Prot: 2B1D_HUMAN, Q5Y7A7 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-13 beta chain precursor  
Size: 266 amino acids; 30008 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Sequence caution: Sequence=CAB40418.1; Type=Erroneous gene model prediction;
Secondary accessions: A0MWF2 A2ICT1 A4ZXA5 A4ZXA6 A7UHG2 A7X5K7 A8YQE9 B0BK85 B3VTQ3 B5A8Y2
B5A8Y3 B5B9V6 B5QSK8 C0LAB5 O02930 O62889 O78047 P79545 Q14280 Q14QT2 Q19K86 Q1G0Z9 Q1KLJ6
Q29673 Q29720 Q29722 Q29806 Q29833 Q29874 Q29886 Q2MF40 Q2YHQ2 Q30112 Q3LA93 Q3LA94 Q3LA95
Q3LA96 Q3LA97 Q3LA98 Q3LA99 Q3LAA0 Q3LAA1 Q3LAA2 Q3MQ60 Q53IG1 Q56FP2 Q56FP3 Q58F52 Q5K3W2
Q5UBA2 Q5W3L4 Q6REE2 Q6U387 Q701T1 Q70Q85 Q768U2 Q7YP03 Q7YQ26 Q7YQA3 Q860E5 Q860H8 Q860Z3
Q861G6 Q861H0 Q861H4 Q8HWQ6 Q8WMA0 Q95389 Q95HL1 Q96HZ9 Q9BCP5 Q9BD21 Q9GIP3 Q9GJ25 Q9GJ60
Q9GJF8 Q9GJF9 Q9GJG0 Q9MY45 Q9MY56 Q9TPW3 Q9TPW9 Q9TPX4 Q9UBY1 Q9UIN0 Q9XRX1 Q9Y453

UniProtKB/Swiss-Prot: 2B1E_HUMAN, Q9GIY3 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-14 beta chain precursor  
Size: 266 amino acids; 30139 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Sequence caution: Sequence=CAB45249.1; Type=Erroneous gene model prediction;
Secondary accessions: A0N0W1 A2TGX3 A4ZY86 A5H000 A5HKN8 A7DZP9 A7X5B1 A7X5B7 A7X5E0 A7X5E6
A7X5H8 A9JPG0 B1GWE7 B2CR03 B2LVF9 B2NJ29 B2ZCY1 B3VTP8 B5B8U0 B5B9V5 B5LZ25 B6VEL9 B9VRA4
B9X248 O02876 O46793 O77969 O78210 Q0PQ39 Q155F7 Q1AP33 Q1JRP3 Q27PR6 Q27PR7 Q29734 Q29770
Q29772 Q29800 Q2A120 Q2HZE5 Q2LE76 Q2MJA6 Q2VQU1 Q307W5 Q31636 Q3LA87 Q3LA88 Q3LA89 Q3LA90
Q3LA91 Q3LA92 Q3T919 Q4PRC3 Q4PRC5 Q4VZY7 Q56FP1 Q5BM92 Q5U9W6 Q683P7 Q70GL2 Q7YNY9 Q7YQA5
Q860D8 Q860D9 Q860S0 Q861H5 Q861H7 Q8MH59 Q8MH60 Q8WLU3 Q95348 Q95HK1 Q95HL0 Q95IG2 Q9GIL5
Q9GIL6 Q9GIY0 Q9GIY1 Q9GIY2 Q9GJ56 Q9GJ57 Q9GJ58 Q9TPB6 Q9TPW1 Q9XRY4 Q9Y4H7

UniProtKB/Swiss-Prot: 2B1F_HUMAN, P01911 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-15 beta chain precursor  
Size: 266 amino acids; 29966 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Miscellaneous: The chain shown constituted about 70% of a pool of at least seven similar beta chains
3 PDB 3D structures from and Proteopedia for HLA-DRB1:
1BX2 (3D)        1YMM (3D)        2WBJ (3D)    
Secondary accessions: Q29790 Q29975 Q30142 Q30166 Q32MY7 Q56FN9 Q5Y7B0 Q5Y7B9

UniProtKB/Swiss-Prot: 2B1G_HUMAN, Q29974 (See protein sequence)

Recommended Name: HLA class II histocompatibility antigen, DRB1-16 beta chain precursor  
Size: 266 amino acids; 30030 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Secondary accessions: A7X5J4 O98212 Q0PGR5 Q29792 Q30120 Q30159 Q30200 Q3HUP9 Q3KTM1 Q3LA84
Q6T865 Q95383

Explore the universe of human proteins at neXtProt for HLA-DRB1: NX_Q29974

Explore proteomics data for HLA-DRB1 at MOPED

Post-translational modifications: 

  • Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of
    MHC class II (Probable)1
  • Ubiquitination2 at Lys254
  • Glycosylation2 at Asn48
  • Modification sites at PhosphoSitePlus (HLA-DRB4)

  • See HLA-DRB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001230894.1  NP_002115.2  

    ENSEMBL proteins: 
     ENSP00000353099  
    Reactome Protein details: Q30167 Q5Y7A7 P04229 Q9TQE0 Q9GIY3 P01911 Q29974 P20039 Q95IE3 P01912 P13760 Q30134 P13761

    HLA-DRB1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HLA-DRB1
    OriGene Protein Over-expression Lysate for HLA-DRB1
    OriGene MassSpec for HLA-DRB1
    OriGene Custom Protein Services for HLA-DRB1
    GenScript Custom Purified and Recombinant Proteins Services for HLA-DRB1
    Novus Biologicals HLA-DRB1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for HLA-DRB1 

    HLA-DRB1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HLA-DRB1
    Browse R&D Systems for Antibodies
    OriGene Antibodies for HLA-DRB1
    OriGene Custom Antibody Services for HLA-DRB1
    Novus Biologicals HLA-DRB1 Antibodies
    Abcam antibodies for HLA-DRB1 (Q30120, P01911, P20039, P13761)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for HLA-DRB1
    LSBio Antibodies in human, mouse, rat for HLA-DRB1

    HLA-DRB1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HLA-DRB1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HLA-DRB1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for HLA-DRB1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

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    HGNC Gene Families:
    HLA: Histocompatibility complex
    C1SET: Immunoglobulin superfamily / C1-set domain containing

    Selected InterPro protein domains (see all 7):
     IPR011162 MHC_I/II-like_Ag-recog
     IPR000353 MHC_II_b_N
     IPR013783 Ig-like_fold
     IPR014745 MHC_II_a/b_N
     IPR003597 Ig_C1-set

    Graphical View of Domain Structure for InterPro Entry P04229
    Graphical View of Domain Structure for InterPro Entry P01912
    Graphical View of Domain Structure for InterPro Entry P13760
    Graphical View of Domain Structure for InterPro Entry P13761
    Graphical View of Domain Structure for InterPro Entry Q30134
    Graphical View of Domain Structure for InterPro Entry Q9TQE0
    Graphical View of Domain Structure for InterPro Entry Q30167
    Graphical View of Domain Structure for InterPro Entry P20039
    Graphical View of Domain Structure for InterPro Entry Q95IE3
    Graphical View of Domain Structure for InterPro Entry Q5Y7A7
    Graphical View of Domain Structure for InterPro Entry Q9GIY3
    Graphical View of Domain Structure for InterPro Entry P01911
    Graphical View of Domain Structure for InterPro Entry Q29974

    ProtoNet protein and cluster: P04229

    2 Blocks protein domains:
    IPB000353 Class II histocompatibility antigen
    IPB003597 Immunoglobulin C-type


    UniProtKB/Swiss-Prot: 2B11_HUMAN, P04229
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B13_HUMAN, P01912
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B14_HUMAN, P13760
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B17_HUMAN, P13761
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B18_HUMAN, Q30134
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B19_HUMAN, Q9TQE0
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B1A_HUMAN, Q30167
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B1B_HUMAN, P20039
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B1C_HUMAN, Q95IE3
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B1D_HUMAN, Q5Y7A7
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B1E_HUMAN, Q9GIY3
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B1F_HUMAN, P01911
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 2B1G_HUMAN, Q29974
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    Find genes that share domains with HLA-DRB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

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    Molecular Function:
    UniProtKB/Swiss-Prot Summary: 2B11_HUMAN, P04229 (see all)
    Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC)
    and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates
    peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation
    of proteins that access the endocytic route, where they are processed by lysosomal proteases and other
    hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
    via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous.
    As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
    contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from
    endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with
    MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as
    epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI
    tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of
    an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
    of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential
    degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP
    (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
    the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
    affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
    membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
    Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the
    regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
    efficient peptide loading

         Genatlas biochemistry entry for HLA-DRB1:
    HLA-DR,beta 1 chain,determining DR1,3,4,5 etc

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0023026MHC class II protein complex binding IDA--
    GO:0032395MHC class II receptor activity TAS3456344
    GO:0042605peptide antigen binding ISS--
         
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HLA-DRB1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HLA-DRB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HLA-DRB1

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidHLA-DRB1 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: HLA-DRB1 (NM_002124)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLA-DRB1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

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    Subcellular locations from UniProtKB/Swiss-Prot
    2B11_HUMAN, P04229: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    2B13_HUMAN, P01912: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    2B14_HUMAN, P13760: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    2B17_HUMAN, P13761: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    2B18_HUMAN, Q30134: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    2B19_HUMAN, Q9TQE0: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    2B1A_HUMAN, Q30167: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    2B1B_HUMAN, P20039: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    2B1C_HUMAN, Q95IE3: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    2B1D_HUMAN, Q5Y7A7: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    2B1E_HUMAN, Q9GIY3: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    2B1F_HUMAN, P01911: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    2B1G_HUMAN, Q29974: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits
    through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for
    antigen presentation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    endosome5
    lysosome5
    plasma membrane5
    vacuole5
    golgi apparatus4
    extracellular2
    nucleus2
    cytoskeleton1
    cytosol1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005765lysosomal membrane TAS--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS3456344
    GO:0009897external side of plasma membrane ISS--

    Find genes that share ontologies with HLA-DRB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

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    SuperPaths for HLA-DRB1 About   (see all 30)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Allograft rejection
    Allograft rejection0.86
    Intestinal immune network for IgA production0.41
    Allograft Rejection0.86
    Viral myocarditis0.40
    Type I diabetes mellitus0.69
    CTL Mediated Apoptosis0.38
    Graft-versus-host disease0.65
    THC Differentiation Pathway0.38
    2CD28 co-stimulation
    Costimulation by the CD28 family0.44
    CTLA4 Signaling0.30
    3Translocation of ZAP-70 to Immunological synapse
    Translocation of ZAP-70 to Immunological synapse0.83
    PD-1 signaling0.72
    Phosphorylation of CD3 and TCR zeta chains0.83
    Generation of second messenger molecules0.62
    4Immune response Antigen presentation by MHC class II
    Immune response Antigen presentation by MHC class II0.46
    Immune response IL 22 signaling pathway0.31
    G protein signaling N RAS regulation pathway0.46
    5ICos-ICosL Pathway in T-Helper Cell
    ICos-ICosL Pathway in T-Helper Cell0.66
    Calcium Mediated T-Cell Apoptosis0.31
    CD28 Signaling in T-Helper Cell0.66


    Find genes that share SuperPaths with HLA-DRB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HLA-DRB1 (see all 12)
        THC Differentiation Pathway
    Calcium Mediated T-Cell Apoptosis
    IL-4 Pathway
    ICos-ICosL Pathway in T-Helper Cell
    CDC42 Pathway

    Selected GeneGo (Thomson Reuters) Pathways for HLA-DRB1 (see all 6)
        Immune response Antigen presentation by MHC class II
    Immune response ICOS pathway in T-helper cell
    Immune response T cell receptor signaling pathway
    Immune response IL-22 signaling pathway
    G-protein signaling N-RAS regulation pathway

    Selected BioSystems Pathways for HLA-DRB1 (see all 6)
        Cytokines and Inflammatory Response
    Allograft Rejection
    IL12-mediated signaling events
    TCR signaling in naive CD4+ T cells
    IL12 signaling mediated by STAT4

    Selected Reactome Pathways for HLA-DRB1 (see all 7)
        Translocation of ZAP-70 to Immunological synapse
    Interferon gamma signaling
    Downstream TCR signaling
    PD-1 signaling
    MHC class II antigen presentation


    Selected Kegg Pathways  (Kegg details for HLA-DRB1) (see all 22):
        Phagosome
    Cell adhesion molecules (CAMs)
    Antigen processing and presentation
    Hematopoietic cell lineage
    Intestinal immune network for IgA production

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HLA-DRB1: 
              Multiple Sclerosis in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HLA-DRB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HLA-DRB1 (P019122 P042292 ENSP000003530994 Q299742, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 200)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000235657P018922, ENSP000003885264MINT-8407259 MINT-8407185 STRING: ENSP00000388526
    ENSG00000227993P019032, ENSP000003726084MINT-24881 STRING: ENSP00000372608
    ENSG00000228987P019032, ENSP000004104434MINT-24881 STRING: ENSP00000410443
    HLA-DRAP019032, ENSP000003787864MINT-24881 STRING: ENSP00000378786
    ENSG00000206308P019032, ENSP000003727464MINT-24881 STRING: ENSP00000372746
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002381immunoglobulin production involved in immunoglobulin mediated immune response ISS--
    GO:0002437inflammatory response to antigenic stimulus ISS--
    GO:0002455humoral immune response mediated by circulating immunoglobulin ISS--
    GO:0006955immune response NAS3129499
    GO:0016045detection of bacterium ISS--

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HLA-DRB1 (2B1G)

    1 DrugBank Compound for HLA-DRB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glatiramer AcetateCOP-1 (see all 3)147245-92-9targetbinder15371592 11752352

    Selected Novoseek inferred chemical compound relationships for HLA-DRB1 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dr-10 77.3 6 7780115 (1), 9550403 (1), 8754259 (1), 10626740 (1)
    dr-16 73.6 1 9243764 (1)
    dpa 1 73.1 5 8782076 (1), 8863870 (1), 17060025 (1), 10616003 (1) (see all 5)
    oligonucleotide 53.4 22 8117375 (1), 12823773 (1), 15865503 (1), 18718089 (1) (see all 20)
    gold sodium thiomalate 36 2 11093435 (1)
    valine 30.5 4 9098452 (1), 8500529 (1), 10439317 (1), 2369430 (1)
    amino acid 19.7 1 1533151 (1)
    c-peptide 4.17 1 15388265 (1)
    atp 3.36 2 12658812 (2)
    lysine 0 2 7738179 (1), 7612412 (1)

    1 PharmGKB related drug/compound annotation for HLA-DRB1 gene    About this table
    Drug/compound PharmGKB Annotation
    lapatinib



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    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for HLA-DRB1 gene (2 alternative transcripts): 
    NM_001243965.1  NM_002124.3  

    Unigene Cluster for HLA-DRB1:

    Major histocompatibility complex, class II, DR beta 1
    Hs.534322  [show with all ESTs]
    Unigene Representative Sequence: AK290388
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000360004(uc021yvx.1 uc003obp.4 uc011dqb.1 uc011dqc.1)

    miRNA
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    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat HLA-DRB1
      QuantiFast Probe-based Assays in human, mouse, rat HLA-DRB1

    Additional mRNA sequence: 

    AB062112.2 AF017440.1 AF097680.1 AF436097.1 AF490771.1 AJ011065.1 AK290388.1 AK292140.1 
    AK314834.1 AY052550.1 AY054375.1 BC009234.2 FJ200455.1 HM627215.1 M15068.1 M15178.1 
    M15992.1 M16086.1 M16731.1 M16954.1 M16955.1 M16956.1 M17377.1 M17383.1 
    M17384.1 M17387.1 M20429.1 M20503.1 M25265.1 M27015.1 M27689.1 M30181.1 
    M30182.1 M32578.1 M35980.1 M35981.1 M57648.1 M59803.1 S79787.1 U17380.1 
    U17381.1 U31770.1 U35375.1 U35729.1 U37433.1 U37582.1 U66826.1 U70543.1 
    U95818.1 X99895.1 

    Selected DOTS entries (see all 50):

    DT.92028787  DT.100776434  DT.92410344  DT.121314547  DT.40115364  DT.91706875  DT.92047682  DT.100781798 
    DT.95164729  DT.121314807  DT.95164752  DT.95164731  DT.100778733  DT.99961180  DT.95164743  DT.91802323 
    DT.95129328  DT.97857272  DT.100766538  DT.121314566  DT.121314746  DT.100650571  DT.100776431  DT.91661820 

    Selected AceView cDNA sequences (see all 89):

    M16731 L42143 X02902 AH002891 AF291675 AJ297586 AJ536121 M15073 
    AJ245881 BV207185 BV183568 BV207240 BC024269 BV201637 M17381 BV200472 
    M15070 BV183567 BV200462 BV207191 BV207249 BV207036 M15069 BV207037 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    HLA-DRB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAGCGCTGA
    HLA-DRB1 Expression
    About this image


    HLA-DRB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Epithelial Cells
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Liver (Hepatobiliary System)
             Mature Mesothelial Cells Hepatic Mesenchyme
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Eye (Sensory Organs)
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
    HLA-DRB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HLA-DRB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534322
        Pathway & Disease-focused RT2 Profiler PCR Arrays including HLA-DRB1: 
              Multiple Sclerosis in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HLA-DRB1
    OriGene qSTAR qPCR primer pairs in human, mouse for HLA-DRB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HLA-DRB1
    QuantiTect SYBR Green Assays in human, mouse, rat HLA-DRB1
    QuantiFast Probe-based Assays in human, mouse, rat HLA-DRB1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DRB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for HLA-DRB1 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia H2-Eb15 histocompatibility 2, class II antigen E beta   --   17 (17.98 cM) 34305883 
    African clawed frog
    (Xenopus laevis)
    Amphibia D13688.12   -- 78.3(n)    D13688.1 


    ENSEMBL Gene Tree for HLA-DRB1 (if available)
    TreeFam Gene Tree for HLA-DRB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for HLA-DRB1 gene
    HLA-DRB52  HLA-DQA12  HLA-DPA12  HLA-DQB12  HLA-DRA2  HLA-DOB2  HLA-DMA2  HLA-DQB22  
    HLA-DOA2  ENSG000002489932  HLA-DMB2  HLA-DQA22  HLA-DPB12  
    Selected SIMAP similar genes for HLA-DRB1 using alignment to 2155 protein entries:     2B11_HUMAN (see all proteins) (see all similar genes):
    HLA DRB4    HLA-DRB1*1301    HLA-DRB1*1302    HLA-DRB1*1402    HLA-DRB1*0402    HLA-DRB1*0407
    HLA-All    HLA-A null    HLA-A*03    HLA-DRB13    HLA-B27    HLA-DRB1*1605
    HLA-DRB1*1327    HLA-DRB14    HLA-Cw3    HLA-D8.2V    HLA-DRB4$0101    DRB52

    Find genes that share paralogs with HLA-DRB1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Polymorphic Variants from UniProtKB/Swiss-Prot
    2B11_HUMAN, P04229: The following alleles of DRB1-1 are known: DRB1*01:01; DRB1*01:02; DRB1*01:03; DRB1*01:04;
    DRB1*01:05; DRB1*01:06; DRB1*01:07; DRB1*01:08; DRB1*01:09; DRB1*01:10; DRB1*01:11; DRB1*01:12; DRB1*01:13;
    DRB1*01:14; DRB1*01:15; DRB1*01:16; DRB1*01:17; DRB1*01:18; DRB1*01:19; DRB1*01:20 and DRB1*01:21. The sequence
    shown is that of DRB1*01:01
    2B13_HUMAN, P01912: The following alleles of DRB1-3 are known: DRB1*03:01; DRB1*03:02; DRB1*03:03; DRB1*03:04;
    DRB1*03:05; DRB1*03:06; DRB1*03:07; DRB1*03:08; DRB1*03:09; DRB1*03:10; DRB1*03:11; DRB1*03:12; DRB1*03:13;
    DRB1*03:14; DRB1*03:15; DRB1*03:16; DRB1*03:17; DRB1*03:18; DRB1*03:19; DRB1*03:20; DRB1*03:21; DRB1*03:22;
    DRB1*03:23; DRB1*03:24; DRB1*03:25; DRB1*03:26; DRB1*03:27; DRB1*03:28; DRB1*03:29; DRB1*03:30; DRB1*03:31;
    DRB1*03:32; DRB1*03:33; DRB1*03:34; DRB1*03:35; DRB1*03:36; DRB1*03:37; DRB1*03:38; DRB1*03:39; DRB1*03:40 and
    DRB1*03:41. The sequence shown is that of DRB1*03:01
    2B14_HUMAN, P13760: The following alleles of DRB1-4 are known: DRB1*04:01, DRB1*04:02, DRB1*04:03, DRB1*04:04,
    DRB1*04:05, DRB1*04:06, DRB1*04:07, DRB1*04:08, DRB1*04:09, DRB1*04:10, DRB1*04:11, DRB1*04:12, DRB1*04:13,
    DRB1*04:14, DRB1*04:15, DRB1*04:16, DRB1*04:17, DRB1*04:18, DRB1*04:19, DRB1*04:20, DRB1*04:21, DRB1*04:22,
    DRB1*04:23, DRB1*04:24, DRB1*04:25, DRB1*04:26, DRB1*04:27, DRB1*04:28, DRB1*04:29, DRB1*04:30, DRB1*04:31,
    DRB1*04:32, DRB1*04:33, DRB1*04:34, DRB1*04:35, DRB1*04:36, DRB1*04:37, DRB1*04:38, DRB1*04:39, DRB1*04:40,
    DRB1*04:41, DRB1*04:42, DRB1*04:43, DRB1*04:44, DRB1*04:45, DRB1*04:46, DRB1*04:47, DRB1*04:48, DRB1*04:49,
    DRB1*04:50, DRB1*04:51, DRB1*04:52, DRB1*04:53, DRB1*04:54, DRB1*04:55, DRB1*04:56, DRB1*04:57, DRB1*04:58,
    DRB1*04:59, DRB1*04:60, DRB1*04:61, DRB1*04:62, DRB1*04:63, DRB1*04:64, DRB1*04:65, DRB1*04:66, DRB1*04:67,
    DRB1*04:68, DRB1*04:69, DRB1*04:70, DRB1*04:71, DRB1*04:72, DRB1*04:73, DRB1*04:74, DRB1*04:75, DRB1*04:76,
    DRB1*04:77 and DRB1*04:78. The sequence shown is that of DRB1*04:01
    2B17_HUMAN, P13761: The following alleles of DRB1-7 are known: DRB1*07:01, DRB1*07:03, DRB1*07:04, DRB1*07:05,
    DRB1*07:06, DRB1*07:07, DRB1*07:08, DRB1*07:09, DRB1*07:11, DRB1*07:12, DRB1*07:13, DRB1*07:14, DRB1*07:15,
    DRB1*07:16 and DRB1*07:17. The sequence shown is that of DRB1*07:01
    2B17_HUMAN, P13761: Allele DRB1*07:01 is associated with persistent hepatitis C virus (HCV) infections [MIM:609532]
    2B18_HUMAN, Q30134: The following alleles of DRB1-8 are known: DRB1*08:01 (Dw8.1), DRB1*08:02 (Dw8.2; DRB1L), DRB1*08:03
    (Dw8.3); DRB1*08:04; DRB1*08:05, DRB1*08:06, DRB1*08:07, DRB1*08:08, DRB1*08:09, DRB1*08:10, DRB1*08:11,
    DRB1*08:12, DRB1*08:13, DRB1*08:14, DRB1*08:15, DRB1*08:16, DRB1*08:17, DRB1*08:18, DRB1*08:19, DRB1*08:20,
    DRB1*08:21, DRB1*08:22, DRB1*08:23, DRB1*08:24, DRB1*08:25, DRB1*08:26, DRB1*08:27, DRB1*08:28, DRB1*08:29,
    DRB1*08:30, DRB1*08:31, DRB1*08:32, DRB1*08:33, DRB1*08:34, DRB1*08:35 and DRB1*08:36. The sequence shown is that
    of DRB1*08:01
    2B19_HUMAN, Q9TQE0: The following alleles of DRB1-9 are known: DRB1*09:01, DRB1*09:02, DRB1*09:03, DRB1*09:04,
    DRB1*09:05, DRB1*09:06, DRB1*09:07 and DRB1*09:08. The sequence shown is that of DRB1*09:01
    2B1A_HUMAN, Q30167: The following alleles of DRB1-10 are known: DRB1*10:01; DRB1*10:02 and DRB1*10:03. The sequence
    shown is that of DRB1*10:01
    2B1B_HUMAN, P20039: The following alleles of DRB1-11 are known: DRB1*11:01, DRB1*11:03, DRB1*11:04, DRB1*11:05,
    DRB1*11:06, DRB1*11:07, DRB1*11:08, DRB1*11:09, DRB1*11:10, DRB1*11:11, DRB1*11:12, DRB1*11:13, DRB1*11:14,
    DRB1*11:15, DRB1*11:16, DRB1*11:17, DRB1*11:18, DRB1*11:19, DRB1*11:20, DRB1*11:21, DRB1*11:22, DRB1*11:23,
    DRB1*11:24, DRB1*11:25, DRB1*11:26, DRB1*11:27, DRB1*11:28, DRB1*11:29, DRB1*11:30, DRB1*11:31, DRB1*11:32,
    DRB1*11:33, DRB1*11:34, DRB1*11:35, DRB1*11:36, DRB1*11:37, DRB1*11:38, DRB1*11:39, DRB1*11:40, DRB1*11:41,
    DRB1*11:42, DRB1*11:43, DRB1*11:44, DRB1*11:45, DRB1*11:46, DRB1*11:47, DRB1*11:48, DRB1*11:49, DRB1*11:50,
    DRB1*11:51, DRB1*11:52, DRB1*11:53, DRB1*11:54, DRB1*11:55, DRB1*11:56, DRB1*11:57, DRB1*11:58, DRB1*11:59,
    DRB1*11:60, DRB1*11:61, DRB1*11:62, DRB1*11:63, DRB1*11:64, DRB1*11:65, DRB1*11:66, DRB1*11:67, DRB1*11:68,
    DRB1*11:69, DRB1*11:70 and DRB1*11:72. The sequence shown is that of DRB1*11:01
    2B1B_HUMAN, P20039: Allele DRB1*11:01 is associated with self-limiting hepatitis C virus (HCV) infections [MIM:609532]
    2B1C_HUMAN, Q95IE3: The following alleles of DRB1-12 are known: DRB1*12:01, DRB1*12:02, DRB1*12:03, DRB1*12:04,
    DRB1*12:05, DRB1*12:06, DRB1*12:07, DRB1*12:08, DRB1*12:09, DRB1*12:10, DRB1*12:11, DRB1*12:12, DRB1*12:13,
    DRB1*12:14, DRB1*12:15, DRB1*12:16, DRB1*12:17, DRB1*12:18 and DRB1*12:19. The sequence shown is that of
    DRB1*12:01
    2B1D_HUMAN, Q5Y7A7: The following alleles of DRB1-13 are known: DRB1*13:01, DRB1*13:02, DRB1*13:03, DRB1*13:04,
    DRB1*13:05, DRB1*13:06, DRB1*13:07, DRB1*13:08, DRB1*13:09, DRB1*13:10, DRB1*13:11, DRB1*13:12, DRB1*13:13,
    DRB1*13:14, DRB1*13:15, DRB1*13:16, DRB1*13:17, DRB1*13:18, DRB1*13:19, DRB1*13:20, DRB1*13:21, DRB1*13:22,
    DRB1*13:23, DRB1*13:24, DRB1*13:25, DRB1*13:26, DRB1*13:27, DRB1*13:28, DRB1*13:29, DRB1*13:30, DRB1*13:31,
    DRB1*13:32, DRB1*13:33, DRB1*13:34, DRB1*13:35, DRB1*13:36, DRB1*13:37, DRB1*13:38, DRB1*13:39, DRB1*13:40,
    DRB1*13:41, DRB1*13:42, DRB1*13:43, DRB1*13:44, DRB1*13:45, DRB1*13:46, DRB1*13:47, DRB1*13:48, DRB1*13:49,
    DRB1*13:50, DRB1*13:51, DRB1*13:52, DRB1*13:53, DRB1*13:54, DRB1*13:55, DRB1*13:56, DRB1*13:57, DRB1*13:58,
    DRB1*13:59, DRB1*13:60, DRB1*13:61, DRB1*13:62, DRB1*13:63, DRB1*13:64, DRB1*13:65, DRB1*13:66, DRB1*13:67,
    DRB1*13:68, DRB1*13:69, DRB1*13:70, DRB1*13:71, DRB1*13:72, DRB1*13:73, DRB1*13:74, DRB1*13:75, DRB1*13:76,
    DRB1*13:77, DRB1*13:78, DRB1*13:79, DRB1*13:80, DRB1*13:81, DRB1*13:82, DRB1*13:83, DRB1*13:84, DRB1*13:85,
    DRB1*13:86, DRB1*13:87 and DRB1*13:88. The sequence shown is that of DRB1*13:01
    2B1E_HUMAN, Q9GIY3: The following alleles of DRB1-14 are known: DRB1*14:01, DRB1*14:02, DRB1*14:03, DRB1*14:04,
    DRB1*14:05, DRB1*14:06, DRB1*14:07, DRB1*14:08, DRB1*14:09, DRB1*14:10, DRB1*14:11, DRB1*14:12, DRB1*14:13,
    DRB1*14:14, DRB1*14:15, DRB1*14:16, DRB1*14:17, DRB1*14:18, DRB1*14:19, DRB1*14:20, DRB1*14:21, DRB1*14:22,
    DRB1*14:23, DRB1*14:24, DRB1*14:25, DRB1*14:26, DRB1*14:27, DRB1*14:28, DRB1*14:29, DRB1*14:30, DRB1*14:31,
    DRB1*14:32, DRB1*14:33, DRB1*14:34, DRB1*14:35, DRB1*14:36, DRB1*14:37, DRB1*14:38, DRB1*14:39, DRB1*14:40,
    DRB1*14:41, DRB1*14:42, DRB1*14:43, DRB1*14:44, DRB1*14:45, DRB1*14:46, DRB1*14:47, DRB1*14:48, DRB1*14:49,
    DRB1*14:50, DRB1*14:51, DRB1*14:52, DRB1*14:53, DRB1*14:54, DRB1*14:55, DRB1*14:56, DRB1*14:57, DRB1*14:58,
    DRB1*14:59, DRB1*14:60, DRB1*14:61, DRB1*14:62, DRB1*14:63, DRB1*14:64, DRB1*14:65, DRB1*14:67, DRB1*14:68,
    DRB1*14:69, DRB1*14:70, DRB1*14:71, DRB1*14:72, DRB1*14:73, DRB1*14:74, DRB1*14:75, DRB1*14:76, DRB1*14:77,
    DRB1*14:78, DRB1*14:79, DRB1*14:80, DRB1*14:81, DRB1*14:82, DRB1*14:83, DRB1*14:84 and DRB1*14:85. The sequence
    shown is that of DRB1*14:01
    2B1F_HUMAN, P01911: The following alleles of DRB1-15 are known: DRB1*15:01, DRB1*15:02, DRB1*15:03, DRB1*15:04,
    DRB1*15:05, DRB1*15:06, DRB1*15:07, DRB1*15:08, DRB1*15:09, DRB1*15:10, DRB1*15:11, DRB1*15:12, DRB1*15:13,
    DRB1*15:14, DRB1*15:15, DRB1*15:16, DRB1*15:18, DRB1*15:19, DRB1*15:20, DRB1*15:21, DRB1*15:22, DRB1*15:23,
    DRB1*15:24, DRB1*15:25, DRB1*15:26, DRB1*15:27, DRB1*15:28, DRB1*15:29, DRB1*15:30, DRB1*15:31 and DRB1*15:32.
    The sequence shown is that of DRB1*15:01
    2B1G_HUMAN, Q29974: The following alleles of DRB1-16 are known: DRB1*16:01; DRB1*16:02; DRB1*16:03; DRB1*16:04;
    DRB1*16:05; DRB1*16:07; DRB1*16:08; DRB1*16:09; DRB1*16:10; DRB1*16:11 and DRB1*16:12. The sequence shown is that
    of DRB1*16:02


    1470 SNPs for HLA-DRB1 (see top 10)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs719457571,2
    C--32546054(+) CTCTC-/AGAT  
            
    AGAAC
    3 -- ds50010--------
    rs412871501,2
    C--32546056(+) CTCAGA/GTAGAA 3 -- ds50014Minor allele frequency- G:0.30WA NA EA 360
    rs343302471,2
    C--32546057(+) TCAGA-/T/TAGA
            
    GAACA
    1 -- ds50010--------
    rs92696481,2
    C--32546060(+) GATAGC/AACATA 3 -- ds50011Minor allele frequency- A:0.00CSA 1
    rs92696491,2
    C--32546067(+) CATAAT/CGGAGA 3 -- ds50011Minor allele frequency- C:0.00NA 2
    rs92696501,2
    C--32546068(+) ATAACG/AGAGAA 1 -- ds50011Minor allele frequency- A:0.00NA 2
    rs339255761,2
    C--32546073(+) GAGAA-/CTCC  
            
    CTCTC
    1 -- ds50010--------
    rs92696511,2
    C,F--32546074(+) GAGAAC/TTCTCC 1 -- ds50012Minor allele frequency- T:0.38NA MN 8
    rs92696521,2
    C,F--32546075(+) AGAACC/TCTCCA 1 -- ds50011Minor allele frequency- T:0.50MN 6
    rs356893431,2
    C--32546079(+) CTCTCC/TATCTT 1 -- ds50010--------
    rs92696531,2
    C,F--32546080(+) TCTCCG/ATCTTC 3 -- ds50012Minor allele frequency- A:0.43MN CSA 7
    rs92696541,2
    C,F--32546091(+) TAAATG/TTGTCT 3 -- ds50018Minor allele frequency- T:0.38NA MN WA CSA EA 372
    rs677618311,2
    C--32546099(+) TCTTT-/CTCT  
            
    GAAAT
    1 -- ds50011Minor allele frequency- CTCT:0.00NA 2
    rs47135361,2
    C,F,H--32546115(+) GTACAA/GGTCCT 1 -- ds50012Minor allele frequency- G:0.12NA EA 240
    rs353908361,2
    --32546124(+) CTTTGA/GTAACA 1 -- ds50010--------
    rs342277961,2
    C--32546128(+) GATAAC/TACTGT 1 -- ds50010--------
    rs92696551,2
    C,F--32546132(+) ACACTA/GTATTA 3 -- ds50019Minor allele frequency- G:0.31MN NA WA CSA EA 373
    rs715404261,2
    C--32546140(+) TTATTT/GAAGTC 3 -- ds50012Minor allele frequency- G:0.00NA 4
    rs94691641,2
    C,F--32546147(+) AGTCTC/TTGGAG 1 -- ds50013Minor allele frequency- T:0.03WA NA EA 242
    rs341197391,2
    C--32546152(+) CTGGAA/GTGAAA 1 -- ds50010--------
    rs347776211,2
    C--32546158(+) TGAAAA/CACTAT 1 -- ds50010--------
    rs1435890011,2
    --32546164(+) ACTATA/GCACTA 3 -- ds50010--------
    rs1162055861,2
    C,F--32546167(+) ATACAC/GTAATT 3 -- ds50013Minor allele frequency- G:0.04WA NA EA 358
    rs356878481,2
    C,F--32546175(+) ATTTAA/C/GAGTTA 1 -- ds50012NA 4
    rs356821441,2
    C--32546183(+) TTATAA/GATACA 1 -- ds50010--------
    rs360616181,2
    C--32546189(+) ATACAA/CAATAT 1 -- ds50010--------
    rs168714021,2
    C,F--32546191(+) ACAAAA/GTATTG 3 -- ds50016Minor allele frequency- G:0.15MN NA WA 432
    rs1166010731,2
    F--32546192(+) CAAAAT/CATTGT 1 -- ds50011Minor allele frequency- C:0.01WA 118
    rs37633331,2
    C,H--32546201(+) GTAGAT/CGAGAT 3 -- ds50011Minor allele frequency- C:0.00NA 2
    rs92696561,2
    C,F--32546203(+) AGACGG/AGATGA 3 -- ds50012Minor allele frequency- A:0.38MN NA 8
    rs92696571,2
    C,F--32546205(+) ACGAGG/ATGAAG 3 -- ds50011Minor allele frequency- A:0.50MN 6
    rs668801591,2
    C--32546208(+) AGATG-/AAGA  
            
    AAGAG
    1 -- ds50010--------
    rs668508121,2
    C--32546210(+) ATGAA-/GAAAGA 3 -- ds50010--------
    rs92797231,2
    C--32546214(+) AGAAA-/A/GGTTCT 1 -- ds50010--------
    rs341078671,2
    C,F--32546214(-) GAACTC/TTTTCT 1 -- ds50013Minor allele frequency- T:0.40NA MN 10
    rs671707341,2
    C--32546214(+) AGAAA-/GAGTTC 1 -- ds50010--------
    rs1445261781,2
    --32546224(+) CTGATC/TGACTT 1 -- ds50010--------
    rs92696591,2
    C,F--32546233(+) TTGCTG/AGCTGG 3 -- ds50012Minor allele frequency- A:0.14WA NA 238
    rs715404291,2
    C--32546235(+) GCTGGT/CTGGTT 3 -- ds50011Minor allele frequency- C:0.00NA 2
    rs344137891,2
    C--32546248(+) TCATC-/TCATGTTT 1 -- ds50010--------
    rs412851691,2
    C--32546249(+) CATCT-/CA/CAT
            
    TGTTT
    2 -- ds5001 cds10--------
    rs92696601,2
    C--32546253(+) TCATGG/TTTGCC 3 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs92696611,2
    C,F--32546259(+) TTGCCC/AAGTTT 3 -- ds50014Minor allele frequency- A:0.45NA MN WA CSA 11
    rs352679681,2
    C--32546274(+) CAGTTC/GTTATA 1 -- ds50010--------
    rs715404301,2
    C--32546278(+) TGTTAT/CAGTCT 3 -- ds50013Minor allele frequency- C:0.03NA WA 240
    rs347460931,2
    C--32546291(+) TCTCAA/GTTTTT 3 -- ds50010--------
    rs351135481,2
    C--32546299(+) TTTATA/GCATTG 3 -- ds50010--------
    rs1421130431,2
    --32546300(+) TTATGC/TATTGC 1 -- ds50010--------
    rs412871581,2
    C,F--32546302(+) ATGCAC/TTGCCT 3 -- ds50012Minor allele frequency- T:0.50WA 4
    rs358131131,2
    C,F--32546304(+) GCATTG/ACCTTT 3 -- ds50011Minor allele frequency- A:0.07NA 120
    rs1164312251,2
    --32546305(+) CATTGC/TCTTTT 1 -- ds50010--------
    rs1124815731,2
    C--32546310(+) CCTTTG/TTAAAT 3 -- ds50010--------
    rs350531981,2
    C--32546312(+) TTTTTA/GAATGT 3 -- ds50010--------
    rs92696621,2
    C,F--32546315(+) TTAAAT/CGTTAG 3 -- ds50012Minor allele frequency- C:0.38NA MN 8
    rs92696631,2
    C,F--32546316(+) TAAATG/ATTAGG 3 -- ds50011Minor allele frequency- A:0.50MN 6
    rs412871621,2
    C--32546321(+) GTTAGC/GATTAC 3 -- ds50012Minor allele frequency- G:0.25WA 4
    rs356882801,2
    C--32546322(+) TTAGGA/TTTACT 3 -- ds50010--------
    rs2003661831,2
    --32546324(+) AGGAT-/TACTTTTT 3 -- ds50010--------
    rs92696641,2
    C--32546333(+) TTTTTA/GATTGA 3 -- ds50010--------
    rs356512391,2
    C--32546357(+) TATAGC/TATATT 3 -- ds50012Minor allele frequency- T:0.25NA WA 4
    rs92696651,2
    C,H--32546358(+) ATAGTA/GTATTT 3 -- ds50012Minor allele frequency- G:0.25NA WA 4
    rs92696661,2
    C--32546366(+) TTTATA/GTTGTA 3 -- ds50010--------
    rs357942741,2
    C--32546368(+) TATGTC/G/TGTACA 3 -- ds50010--------
    rs359910271,2
    C--32546372(+) TTGTAC/GAGCAT 1 -- ds50011Minor allele frequency- G:0.00NA 2
    rs92696671,2
    C--32546375(+) TACAGA/CATGAA 3 -- ds50010--------
    rs412871661,2
    C,F--32546387(+) TTTTGA/TTATAT 1 -- ds50012Minor allele frequency- T:0.07WA NA 238
    rs92696681,2
    C--32546394(+) ATATGC/GCTATA 3 -- ds50012Minor allele frequency- G:0.00NA WA 4
    rs69263381,2
    C,F,A--32546410(+) GAATGT/ACTAAA 1 -- ds50011Minor allele frequency- A:0.09WA 118
    rs92696691,2
    C--32546418(+) AAATCA/CAGCTA 1 -- ds50012Minor allele frequency- C:0.25NA WA 4
    rs92696701,2
    C--32546421(+) tccagC/G/Ttattt 1 -- ds50011WA 2
    rs92696711,2
    C--32546427(+) tatttT/Aacata 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs92696721,2
    C--32546433(+) ACATAT/CGCATT 3 -- ds50012Minor allele frequency- C:0.25NA WA 4
    rs412871781,2
    C--32546434(+) CATACA/GCATTA 1 -- ds50010--------
    rs715404331,2
    C--32546435(+) ATACGT/CATTAC 3 -- ds50011Minor allele frequency- C:0.00NA 2
    rs728476851,2
    C,F--32546446(+) CTCACA/GCACTC 3 -- ds50012Minor allele frequency- G:0.11WA NA 238
    rs92696731,2
    C--32546447(+) TCACAT/CACTCA 3 -- ds50016Minor allele frequency- C:0.30WA CSA NA EA 363
    rs353331151,2
    C,F,H--32546454(+) CTCATG/TACATA 1 -- ds50011Minor allele frequency- T:0.30NS 168
    rs412871821,2
    C,F--32546458(+) TGACAT/CATACA 1 -- ds50013Minor allele frequency- C:0.21WA NA EA 358
    rs412871861,2
    C,F--32546460(+) ACATAT/CACATG 1 -- ds50013Minor allele frequency- C:0.19WA NA EA 358
    rs412871901,2
    C,F--32546463(+) TATACA/C/GTGAAA 3 -- ds50013WA NA EA 358
    rs412871941,2
    C,F--32546480(+) ATTCTA/GTTGGA 1 -- ds50013Minor allele frequency- G:0.15WA NA EA 358
    rs69263841,2
    C,A--32546483(+) CTATTA/GGAAAA 1 -- ds50010--------
    rs92696741,2
    C,F--32546485(+) ATTGGG/AAAATA 3 -- ds50014Minor allele frequency- A:0.27MN NA WA CSA 11
    rs1405302641,2
    --32546492(+) ATAAT-/CTTC  
            
    CTTCC
    1 -- ds50010--------
    rs2014693911,2
    --32546496(+) ATCTT-/CCCTTT 3 -- ds50010--------
    rs1416432181,2
    C--32546499(+) TCCCT-/CCCTTTTTC
    /TTTTCTTTTC
    TTTTC
    2 -- ds5001 cds10--------
    rs92818621,2
    C--32546509(+) TTTTC-/TTTTC/TTTT
    CTTTTC
    /TTTTT
    ATTTT
    1 -- ds50011NA 2
    rs92696751,2
    C--32546515(+) ATTTTT/CTGTCT 3 -- ds50015Minor allele frequency- C:0.27NA CSA WA EA 361
    rs354631521,2
    C--32546520(+) CTGTCC/TTTGGA 1 -- ds50010--------
    rs344844071,2
    C--32546525(+) TTTGGA/GGCCAA 1 -- ds50010--------
    rs355281151,2
    C,F--32546541(+) CCAGAT/CGATAT 3 -- ds50012Minor allele frequency- C:0.05WA EA 238
    rs348647181,2
    C--32546542(+) CAGATA/GATATT 1 -- ds50010--------
    rs348340541,2
    C--32546545(+) ATGATA/TTTTAA 1 -- ds50010--------
    rs348397591,2
    C,F--32546557(+) TCCATC/GTTTGA 1 -- ut313Minor allele frequency- G:0.18WA NA EA 358
    rs1141038961,2
    F--32546559(+) CATCTT/GTGAGA 1 -- ut311Minor allele frequency- G:0.12NA 120
    rs11418831,2
    C,F--32546592(-) CTGTAC/TGACAA 3 -- ut315Minor allele frequency- T:0.20MN WA NA EA 366
    rs10602701,2
    C,F--32546603(-) CTGTAC/TTCACC 3 -- ut31 ese36Minor allele frequency- T:0.23MN WA CSA NA EA 367
    rs32056841,2
    C--32546614(-) CTCCCA/GTGCAT 1 -- ut310--------
    rs10647171,2
    C,F--32546615(-) CCTCCT/CGTGCA 3 -- ut31 ese37Minor allele frequency- C:0.32MN WA CSA NA EA 551
    rs1854480401,2
    --32546619(+) CGGGAG/TGCCAT 1 -- ut310--------
    rs69208231,2
    C,F,A--32546622(+) GAGGCC/AATACG 1 -- ut311Minor allele frequency- A:0.10WA 118
    rs10647151,2
    C,F--32546626(-) AAACCC/G/TTATGG 6 -- ut318MN WA CSA NA EA 553
    rs17291,2
    C--32546629(+) TACGGA/G/TTTAGG 2 -- ut310--------
    rs1181267431,2
    C,F--32546631(+) CGGTTT/CAGGCA 1 -- ut311Minor allele frequency- C:0.05EA 120
    rs345427521,2
    C--32546652(+) CAAAAC/GTTGAA 1 -- ut310--------
    rs801360181,2
    C--32546654(+) AAAGTG/TGAAGA 3 -- ut310--------
    rs1997033841,2
    --32546654(+) AAGTT-/GGAAGA 3 -- ut310--------
    rs32010691,2
    C,F--32546665(-) GCAGCA/C/GCCTCA 2 -- ut312NA EA 240
    rs10647131,2
    C,F--32546666(-) GGCAGC/TGCCTC 1 -- ut31 ese33Minor allele frequency- T:0.27MN NA 310
    rs349811301,2
    C--32546670(-) TGATGA/GCAGCG 3 -- ut310--------
    rs10647121,2
    C,F--32546673(-) CATTGA/GTGGCA 3 -- ut311Minor allele frequency- G:0.03MN 184
    rs17301,2
    C--32546674(+) GCCATC/TAATGC 1 -- ut310--------
    rs10601901,2
    C,F--32546677(-) CCAGCT/ATTGAT 1 -- ut312Minor allele frequency- A:0.47MN 368
    rs716851351,2
    C--32546680(+) ATGCT-/TGGGGAC 1 -- ut310--------
    rs92818631,2
    C--32546681(+) TGCTG-/G/TG  
            
    GGACT
    2 -- ut310--------
    rs10601851,2
    C--32546684(-) TGAAGC/TCCCAG 1 -- ut31 ese30--------
    rs32084091,2
    C,F--32546696(-) CTGCCC/TTTGGC 1 -- ut314Minor allele frequency- T:0.18CSA WA NA EA 360
    rs10647101,2
    C,F--32546697(-) CCTGCC/TCTTGG 1 -- ut31 ese31Minor allele frequency- T:0.28MN 184
    rs10647091,2
    C--32546698(-) TCCTGC/TCCTTG 1 -- ut31 ese30--------
    rs32000471,2
    C--32546699(-) CTCCTA/GCCCTT 1 -- ut310--------
    rs1138043751,2
    C--32546703(+) GCAGGG/AGCTGA 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs10601761,2
    C,F,A--32546704(-) CTCAGC/TTCCTG 3 -- ut31 ese36Minor allele frequency- T:0.39MN WA NA EA 546
    rs17321,2
    C,F--32546711(+) TGAGGA/CAGCCA 1 -- ut312Minor allele frequency- C:0.43MN NA 304
    rs1420783391,2
    C--32546726(+) GGAGGA/GCATTT 3 -- ut310--------
    rs1128711301,2
    F--32546727(+) GAGGAC/TATTTT 3 -- ut313Minor allele frequency- T:0.10CSA WA 122
    rs1485824991,2
    C--32546736(+) TCTGC-/AGAGTTG 1 -- ut310--------
    rs32000441,2
    C--32546739(-) CGGCAA/G/TCTGCA 2 -- ut310--------
    rs10647071,2
    C,F--32546743(-) GGTTCA/G/TGCAAC 6 -- ut31 ese38MN WA CSA NA EA 370
    rs10601291,2
    C,F--32546758(-) GACCTG/AGTTGC 3 -- ut31 ese32Minor allele frequency- A:0.50WA NA 4
    rs1137345981,2
    C,F--32546761(+) ACCAGG/ATCCTG 1 -- ut313Minor allele frequency- A:0.21WA NA EA 358
    rs340229241,2
    C--32546765(+) GGTCCA/G/TGAGAA 2 -- ut311CSA 1
    rs10600811,2
    C--32546781(-) TCCACA/GAGAGA 3 -- ut316Minor allele frequency- G:0.22MN WA CSA NA EA 546
    rs1163588971,2
    C,F--32546782(+) CTCTTG/ATGGAA 1 -- ut313Minor allele frequency- A:0.18WA NA EA 358
    rs1820308001,2
    C--32546783(+) TCTTGC/TGGAAG 3 -- ut310--------
    rs32008981,2
    C--32546792(-) GCAGTC/TATTCT 1 -- ut310--------
    rs11418691,2
    C--32546794(-) TGGCAC/GTTATT 1 -- ut310--------
    rs10647011,2
    C,F--32546795(-) TTGGCT/AGTTAT 3 -- ut312Minor allele frequency- A:0.43MN CSA 7
    rs718646781,2
    C--32546799(+) CTGCC-/AAGCAG 1 -- ut310--------
    rs92696881,2
    C,F--32546800(+) TGCCAG/AGCAGG 3 -- ut311Minor allele frequency- A:0.50MN 6
    rs31807991,2
    C,F--32546802(-) TTCCTA/C/G/
            
    CTTGG
    3 -- ut311MN 6
    rs31802681,2
    C,F--32546803(-) TTTCCC/TGCTTG 3 -- ut311Minor allele frequency- T:0.50MN 6
    rs123631,2
    C,F--32546805(-) GCTTTC/G/TCTGCT 6 -- ut31 ese30--------
    rs10646991,2
    C,F--32546806(-) AGCTTC/TCCTGC 1 -- ut311Minor allele frequency- T:0.10MN 184
    rs362177301,2
    C,F--32546818(-) TGCAGG/AATGAA 3 -- ut314Minor allele frequency- A:0.09WA NA EA EU 937
    rs1462927381,2
    C,F--32546821(+) ATCCTG/TCAAAG 3 -- ut311Minor allele frequency- T:0.01EU 591
    rs2008495251,2
    C--32546824(+) CTGCAA/GAGCCG 3 -- ut310--------
    rs10646971,2
    C,F--32546828(-) GCCCCA/GGCTTT 3 -- ut313Minor allele frequency- G:0.10MN WA EU 735
    rs362177281,2
    C,F--32546832(-) TTCTGC/TCCCGG 3 -- ut311Minor allele frequency- T:0.08EU 580
    rs10646951,2
    C,F,H--32546833(-) TTTCTG/TCCCCG 3 -- ut312Minor allele frequency- T:0.49MN 368
    rs2005385921,2
    C,F--32546836(+) GGCAGA/TAAGTT 3 -- ut311Minor allele frequency- T:0.01EU 593
    rs10646941,2
    C--32546838(-) AGAACC/TTTCTG 3 -- ut310--------
    rs10646921,2
    C,F--32546839(-) AAGAAC/TTTTCT 3 -- ut311Minor allele frequency- T:0.22EU 337
    rs2020538521,2
    C,F--32546843(+) AGTTCT/CTCCTT 3 -- ut311Minor allele frequency- C:0.08EU 339
    rs10646911,2
    C--32546846(-) TTCAAA/GGAAGA 1 -- ut310--------
    rs10599201,2
    C,F--32546849(-) ACATTC/TAAGGA 3 -- ut311Minor allele frequency- T:0.23EU 361
    rs680691051,2
    C--32546855(+) AATGT-/GGTCAT 1 -- ut310--------
    rs349558661,2
    C,F--32546863(+) CATCTG/TCATTT 3 -- ut311Minor allele frequency- T:0.12EU 365
    rs92696931,2
    C,F--32546866(+) CTGCAC/G/TTTCAG 6 -- ut318MN WA CSA NA EA EU 929
    rs344759601,2
    C,F--32546876(+) GCTCAG/AGAATC 6 /L syn11Minor allele frequency- A:0.02EU 325
    rs354451011,2
    C,F--32546879(+) CAGGAA/GTCCTG 6 L F mis15Minor allele frequency- G:0.18CSA WA NA EA EU 811
    rs31807971,2
    C,F--32546887(-) GTCTTC/G/TTGCAG 3 -- int11EU 413
    rs2006018581,2
    F--32546888(+) TGCAAA/GAGACA 3 -- int11Minor allele frequency- G:0.04EU 320
    rs359854231,2
    C,F--32546894(+) AGACAA/C/GAGGAG 3 -- int11EU 400
    rs1174174621,2
    C,F--32546897(+) CAGAGA/G/TAGAGT 1 -- int11EA 120
    rs356622031,2
    C,F--32546899(+) GAGGAG/AAGTGT 3 -- int11Minor allele frequency- A:0.05EU 307
    rs342523861,2
    C--32546912(+) TTTCA-/GACCTG 3 -- int10--------
    rs1811258061,2
    C,F--32546914(+) TTCAAC/TCTGGC 3 -- int11Minor allele frequency- T:0.10EU 343
    rs92696941,2
    C,F--32546918(+) ACCTGG/ACTCTA 3 -- int13Minor allele frequency- A:0.50MN WA CSA 10
    rs676155471,2
    C--32546929(+) CTAAC-/AGTTTC 1 -- int10--------
    rs2014777971,2
    F--32546931(+) AACAGT/CTTCTT 3 -- int11Minor allele frequency- C:0.13EU 379
    rs349582001,2
    C--32546934(+) AGTTTC/ATTTTC 3 -- int11Minor allele frequency- A:0.01EU 425
    rs412872141,2
    C--32546938(+) TCTTTC/TCCCCT 1 -- int10--------
    rs728476911,2
    C--32546940(+) TTTTCC/TCCTCT 3 -- int10--------
    rs92696951,2
    C,F--32546941(+) TTTCCC/TCTCTT 3 -- int1 trp32Minor allele frequency- T:0.50MN WA 8
    rs412872151,2
    C--32546948(+) TCTTTC/GAAGGG 1 -- int10--------
    rs92696961,2
    C--32546950(+) TTTCAG/AGGGCT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1998519851,2
    C--32546952(+) TCAAGA/GGCTCA 3 -- int10--------
    rs92696971,2
    C,F--32546953(+) CAAGGG/ACTCAG 3 -- int12Minor allele frequency- A:0.50MN WA 8
    rs1488081721,2
    C--32546963(+) GATGAA/GAGCAC 3 -- int10--------
    rs412872161,2
    C--32546965(+) TGAGAA/GCACTG 3 -- int11Minor allele frequency- G:0.00WA 2
    rs728476931,2
    C,F--32546978(+) GGAAGA/CAGAAA 3 -- int11Minor allele frequency- C:0.17NA 120
    rs92696981,2
    C,F--32546986(+) AAAAAC/GAAGTT 3 -- int1 trp31Minor allele frequency- G:0.33MN 6
    rs1424023651,2
    --32546989(+) AAGAAC/GTTCCT 1 -- int10--------
    rs339624571,2
    C,F--32547005(+) TCCCCT/AGAGCC 1 -- int11Minor allele frequency- A:0.50MN 6
    rs679169551,2
    C--32547005(+) TCCCC-/TGAGCC 1 -- int10--------
    rs342615871,2
    C--32547015(+) CAATAA/C/GTCCCG 1 -- int10--------
    rs1914647701,2
    --32547017(+) ATAGTC/TCCGCA 1 -- int10--------
    rs352873461,2
    C--32547019(+) AGTCCC/TGCAGA 1 -- int11Minor allele frequency- T:0.50NA 2
    rs92697001,2
    C--32547020(+) GTCCCG/ACAGAG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs92818641,2
    C--32547029(+) GCACA-/GC/GG 
            
    CCTTT
    1 -- int10--------
    rs671997431,2
    C--32547030(+) CACAC-/GC/GG 
            
    CTTTT
    1 -- int10--------
    rs412872171,2
    C--32547036(+) CTTTTC/TTAAGT 3 -- int10--------
    rs92697011,2
    C,F--32547053(+) GAGGAG/ATTTTG 3 -- int1 trp34Minor allele frequency- A:0.33MN NA WA 12
    rs346959781,2
    C--32547060(+) TTTGGC/G/TGTAAA 3 -- int10--------
    rs1141517331,2
    F--32547085(+) ATTTGG/AATCCA 1 -- int11Minor allele frequency- A:0.08NA 120
    rs345361921,2
    C,F--32547092(+) TCCAAA/TGTCTT 3 -- int11Minor allele frequency- T:0.09EA 120
    rs341416641,2
    C--32547099(+) TCTTTA/C/GCTATT 3 -- int10--------
    rs3685819791,2
    C--32547099(+) TCTTT-/CCTATT 3 -- int10--------
    rs345519731,2
    C--32547106(+) TATTAC/TTTCTG 3 -- int11Minor allele frequency- T:0.00NA 2
    rs1135055151,2
    C--32547118(+) CTCATC/GCCTTA 3 -- int10--------
    rs348947621,2
    C--32547125(+) CTTATC/TACCTC 3 -- int10--------
    rs1131325001,2
    --32547136(+) TACCAC/TCATTC 3 -- int11Minor allele frequency- T:0.00CSA 1
    rs92818651,2
    C--32547137(+) CATCA-/ATTCtg 1 -- int10--------
    rs92697021,2
    C--32547143(+) ATTCTA/GGTGTG 3 -- int14Minor allele frequency- G:0.14NA WA CSA 7
    rs92697031,2
    C,F--32547152(+) TGTCCA/G/TGAGTT 3 -- int14WA NA 242
    rs1116886921,2
    C,F--32547168(+) CTTCCG/AGTGGG 1 -- int11Minor allele frequency- A:0.18NA 120
    rs412872181,2
    C--32547171(+) CCGGTA/GGGTTT 1 -- int10--------
    rs92697041,2
    C--32547176(+) GGGTTC/TGTGGT 1 -- int10--------
    rs412872201,2
    C--32547178(+) GTTTGG/TGGTCT 1 -- int10--------
    rs92697051,2
    C--32547182(+) gtggtC/Ttcgct 1 -- int10--------
    rs412872211,2
    C--32547184(+) GGTCTC/GGCTGA 1 -- int10--------
    rs92569381,2
    C,F--32547194(+) ACTTCA/CTGCAG 1 -- int11Minor allele frequency- C:0.46NA 120
    rs412846711,2
    C--32547194(+) cttcc-/AGA   
      A
    /AGAG
    tgcag
    1 -- int10--------
    rs1145474851,2
    F--32547195(+) CTTCCT/AGCAGA 1 -- int11Minor allele frequency- A:0.21NA 120
    rs1996533371,2
    --32547195(+) TTCCT-/CAAGCAGA 3 -- cds10--------
    rs412872221,2
    C--32547203(+) AGACCC/TTCACA 1 -- int10--------
    rs412872231,2
    C--32547205(+) ACCTTC/TACAGT 1 -- int10--------
    rs412872241,2
    C--32547206(+) CCTTCA/GCAGTG 1 -- int10--------
    rs412872251,2
    C--32547219(+) TGTTAC/TAGCTC 1 -- int10--------
    rs1907951201,2
    --32547224(+) CAGCTC/TTTAAA 1 -- int10--------
    rs92697081,2
    C--32547232(+) AAAGGC/TGGCAG 1 -- int10--------
    rs92697091,2
    C--32547237(+) CGGCAC/GGGATC 1 -- int10--------
    rs92697101,2
    C--32547238(+) ggcagA/Ggatcc 1 -- int10--------
    rs92697111,2
    C--32547241(+) AGGGAC/TCCAAA 3 -- int11Minor allele frequency- T:0.00WA 2
    rs728476961,2
    C--32547251(+) AGAGTA/GGGCAG 3 -- int10--------
    rs92697151,2
    C--32547278(+) GAAGAG/TCAAAA 3 -- int10--------
    rs92697241,2
    C--32547352(+) agcttG/Ttattc 1 -- int10--------
    rs92697281,2
    C,F--32547385(+) CCTGCA/TGATTG 3 -- int11Minor allele frequency- T:0.23NA 120
    rs92697331,2
    C,F--32547432(+) GAGTGC/G/TTGATT 1 -- int11NA 120
    rs92697381,2
    C--32547461(+) tgattA/Ggtcca 1 -- int10--------
    rs1158831591,2
    F--32547476(+) AAAGAG/ATGCTG 1 -- int11Minor allele frequency- A:0.18NA 120
    rs1866304811,2
    --32547486(+) GATTGC/GTCTAT 1 -- int10--------
    rs1113581981,2
    C,F--32547489(+) TGGTCT/CATTTT 1 -- int11Minor allele frequency- C:0.18NA 120
    rs1910782931,2
    --32547490(+) GGTCTA/GTTTTA 1 -- int10--------
    rs728476981,2
    C,F--32547504(+) AGTGCG/AAATTG 1 -- int11Minor allele frequency- A:0.20NA 120
    rs1827934361,2
    --32547530(+) ATCCAG/TCTAGC 1 -- int10--------
    rs1883531171,2
    --32547543(+) CAGAGA/TACCTA 1 -- int10--------
    rs1928375191,2
    --32547544(+) AGAGAA/GCCTAT 1 -- int10--------
    rs1844724291,2
    --32547547(+) GAACCA/TATTGG 1 -- int10--------
    rs1165311571,2
    F--32547565(+) TTACAG/AAGCAC 1 -- int12Minor allele frequency- A:0.48WA NA 238
    rs728476991,2
    C,F--32547578(+) ATTGGT/GGCATT 1 -- int12Minor allele frequency- G:0.12WA NA 238
    rs1876122881,2
    --32547609(+) GGCGCA/GGTGGC 1 -- int10--------
    rs599030271,2
    C,F--32547619(+) CTCACA/GCCTGT 1 -- int11Minor allele frequency- G:0.00WA 2
    rs287323041,2
    C--32548908(+) GTTTGC/G/TCTAGA 1 -- int10--------
    rs92818681,2
    C--32549064(+) AGCCT-/GGGGAG 1 -- int10--------
    rs3676717071,2
    C--32549065(+) GCCTG-/C/GGGAGA 1 -- int10--------
    rs287323231,2
    C--32549180(+) AAACAA/C/GCTACA 1 -- int10--------
    rs680742151,2
    C--32549627(+) GAAAA-/A/AC  
            
    AACGT
    1 -- int10--------
    rs725015481,2
    C--32549807(+) TGAGA-/GGTGTTGT 1 -- int10--------
    rs92818691,2
    C--32550284(+) ATTTT-/TAGGAA 1 -- int10--------
    rs3698357241,2
    C--32550643(+) ATACA-/A/AC/C
            
    TATTT
    1 -- int10--------
    rs1487715841,2
    --32551030(+) AAATAC/TAAATT 1 -- int10--------
    rs412838171,2
    C--32551183(+) AATAAA/TATAGT 1 -- int10--------
    rs681045131,2
    C--32551259(+) ACACT-/GAAAAA 1 -- int10--------
    rs92818711,2
    C--32551536(+) GGACC-/CGAGAT 1 -- int10--------
    rs1159681901,2
    C,F--32551669(+) CAGACA/CAATCC 1 -- int11Minor allele frequency- C:0.05WA 118
    rs1389140121,2
    --32551756(+) CTCTC-/TCTC  
      TCTCTT
    CCTCT
    1 -- int10--------
    rs2001210451,2
    --32551757(+) TCTCT-/CTCT  
      CTCTTC
    CTCTC
    1 -- int10--------
    rs2018755301,2
    --32551763(+) TCTCT-/CTTC  
            
    CTCTC
    1 -- int10--------
    rs1437742741,2
    C--32551764(+) CTCTC-/TTCCT 
     CTCTCTG
    TCTCT
    1 -- int10--------
    rs2005655791,2
    --32551765(+) TCTCT-/TCCTCTC 1 -- int10--------
    rs1997987661,2
    --32551774(+) CTCTC-/TGTCT 
     CTCTCTG
    TCTCT
    1 -- int10--------
    rs92797351,2
    C--32551785(+) tctct-/GT    
       
    /GTCT
    ctctc
    1 -- int10--------
    rs412856511,2
    C--32551785(+) TCTCTC/GTCTCT 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs2020505381,2
    --32551786(+) CTCTG-/TCTCTC
            
    TCTCA
    1 -- int10--------
    rs2008317301,2
    --32551789(+) TGTCT-/CTC   
       TCTCA
    CACAC
    1 -- int10--------
    rs1932473891,2
    --32551834(+) CACACA/TCTCAG 1 -- int10--------
    rs115544621,2
    C,F--32552081(-) ACAGAT/CACTTC 2 /H /Y mis1 ese32Minor allele frequency- C:0.15WA EU 347
    rs11367591,2
    C--32552131(-) TAAGAA/C/G/
            
    GGAGT
    4 K T R M mis10--------
    rs11367581,2
    C--32552132(-) CTAAGA/C/G/
            
    GGGAG
    4 R G W syn1 mis10--------
    rs92699591,2
    C--32552144(+) CTGCCA/C/G/
            
    CAGGA
    4 R G W mis10--------
    rs3717794171,2
    C--32552183(+) TCACA-/CGGGCG 3 -- int10--------
    rs92569411,2
    C--32552184(+)