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HLA-DRB3 Gene

protein-coding   GIFtS: 50
GCID: GC06M8T3720

Major Histocompatibility Complex, Class II, DR Beta 3


(Previous symbol: HLA-DR3B)
  See 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 31 2     HLA Class II Histocompatibility Antigen, DRB1-7 Beta Chain2
HLA-DR3B1 2     Human Leucocyte Antigen DRB32
MHC Class II Antigen DRB32 3     MHC Class II Antigen DR Beta 3 Chain2
DR72     MHC Class II HLA-DR Beta 3 Chain2
HLA Class II Histocompatibility Antigen, DR Beta 3 Chain2     HLA-DR525

External Ids:    HGNC: 49511   Entrez Gene: 31252   Ensembl: ENSG000002304637   OMIM: 6127355   UniProtKB: P794833   

Export aliases for HLA-DRB3 gene to outside databases

Previous GC identifers: GC06M032491 GC06M032483 GC06M032534 GC06M032079 GC06Mr32571 GC06Mf32560 GC06Mc32559 GC06Mi32479 GC06Mj32451


(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-DRB3 Gene:
HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of
an alpha (DRA) and a beta (DRB) chain, 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
and its gene contains 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. Typing for these
polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five
times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB3 is linked with allelic variants of
DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. (provided by
RefSeq, Jul 2008)

GeneCards Summary for HLA-DRB3 Gene:
HLA-DRB3 (major histocompatibility complex, class II, DR beta 3) is a protein-coding gene. Diseases associated with HLA-DRB3 include fetal and neonatal alloimmune thrombocytopenia, and pityriasis rosea. GO annotations related to this gene include MHC class II receptor activity and peptide antigen binding.

UniProtKB/Swiss-Prot: DRB3_HUMAN, P79483
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-DRB3 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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Regulatory elements:
   Search for regulatory transcription factor binding sites for HLA-DRB3
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for HLA-DRB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HLA-DRB3


Genomic Location:
Chromosome:6   

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  HSCHR6_MHC_APDp21.32   HGNC cytogenetic band: 6p21.3 alternate reference locus

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M8T3720:       (about GC identifiers)

Start:
3,720,951 bp from pter      End:
3,734,018 bp from pter
Size:
13,068 bases      Orientation:
minus strand

2 alternative locations:
Chr6-,ALT_REF_LOCI_2 32,411,911-32,425,028      Chr6-,NT_113891.2 3,934,127-3,947,195     

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: DRB3_HUMAN, P79483 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DR beta 3 chain precursor  
Size: 266 amino acids; 29962 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
Caution: HLA-DRB3, HLA-DRB4 and HLA-DRB5 may represent a unique gene
3 PDB 3D structures from and Proteopedia for HLA-DRB3:
2Q6W (3D)        3C5J (3D)        4H1L (3D)    
Secondary accessions: A0ZXY9 A7MA46 B5AU12 B5AU13 B5AU14 B8YAC6 C6H115 C6H116 O02875 O19590
O46701 O46794 O78049 O78162 P01913 P79663 Q29721 Q29809 Q2PPD0 Q30144 Q507L8 Q5SP44 Q5STE0
Q6YJU6 Q70M87 Q7YQ62 Q860I9 Q8SP69 Q8WLT7 Q8WLT8 Q95359 Q95HM8 Q95IE5 Q96H16 Q9BCP3 Q9BD18
Q9MYA4 Q9MYH3 Q9MYH4 Q9TP01 Q9TP02 Q9TPB5 Q9TQ21 Q9UIN3 Q9UIN5

Explore the universe of human proteins at neXtProt for HLA-DRB3: NX_P79483

Explore proteomics data for HLA-DRB3 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

  • See HLA-DRB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_072049.2  
    ENSEMBL proteins: 
     ENSP00000416022  
    Reactome Protein details: P79483

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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 P79483

    ProtoNet protein and cluster: P79483

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


    UniProtKB/Swiss-Prot: DRB3_HUMAN, P79483
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    HLA-DRB3 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DRB3_HUMAN, P79483
    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-DRB3:
    HLA-DR,beta 3 chain,determining DRW52;W24,25,26

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15795121
    GO:0032395MHC class II receptor activity TAS11144299
    GO:0042605peptide antigen binding IDA--
         
    HLA-DRB3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HLA-DRB3:
     Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HLA-DRB3
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    hsa-miR-539 hsa-miR-580
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DRB3_HUMAN, P79483: 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
    extracellular3
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    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 NAS6414998
    GO:0009897external side of plasma membrane IDA--

    HLA-DRB3 for ontologies           About GeneDecksing


    (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).
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    SuperPaths for HLA-DRB3 About   (see all 25)  
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HLA-DRB3 (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-DRB3 (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

    1 BioSystems Pathway for HLA-DRB3
        Allograft Rejection

    Selected Reactome Pathways for HLA-DRB3 (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-DRB3) (see all 22):
        Phagosome
    Cell adhesion molecules (CAMs)
    Antigen processing and presentation
    Hematopoietic cell lineage
    Intestinal immune network for IgA production


    HLA-DRB3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HLA-DRB3
    Interactions:

        Search GeneGlobe Interaction Network for HLA-DRB3

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

    Selected Interacting proteins for HLA-DRB3 (P794833 ENSP000004160224) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTAG1AP783583I2D: score=1 
    CTAG1BP783583I2D: score=1 
    POMCP011893I2D: score=3 
    ANXA11P509953I2D: score=1 
    ATP1B1P050263I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002381immunoglobulin production involved in immunoglobulin mediated immune response IDA17050030
    GO:0002437inflammatory response to antigenic stimulus IDA15795121
    GO:0002455humoral immune response mediated by circulating immunoglobulin IDA17050030
    GO:0006955immune response TAS10609818
    GO:0007165signal transduction NAS8775462

    HLA-DRB3 for ontologies           About GeneDecksing



    (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)
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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-DRB3 (DRB3)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HLA-DRB3 gene: 
    NM_022555.3  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000426847(uc011erj.1 uc011eri.2)
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      QuantiTect SYBR Green Assays in human, mouse, rat HLA-DRB3
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    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)
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    HLA-DRB3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HLA-DRB3 Expression
    About this image

    HLA-DRB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HLA-DRB3 Protein Expression
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DRB3

    (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)
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      --

    ENSEMBL Gene Tree for HLA-DRB3 (if available)
    TreeFam Gene Tree for HLA-DRB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HLA-DRB3 gene
    Selected SIMAP similar genes for HLA-DRB3 using alignment to 44 protein entries:     DRB3_HUMAN (see all proteins) (see all similar genes):
    HLA-DRB3$0301    HLA DRB4    HLA-DR4/Dw13    HLA-D8.2V    HLA-DRB13    HLA-DRB4*0102
    HLA-DRB3*01    MHC Class II HLA DRB1    HLA-DRB1*1327    HLA-DRB1*1605    HLA-DR-beta 1    MHC class II HLA DRB1
    HLA-DR4    HLA-DR beta    DRB1 HAG    HLA-DR3    HLA-DRB1*0801    DRB1*08

    HLA-DRB3 for paralogs           About GeneDecksing



    (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)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    DRB3_HUMAN, P79483: The following alleles of DRB3 are known: DRB3*01:01, DRB3*01:02, DRB3*01:03, DRB3*01:04, DRB3*01:05,
    DRB3*01:06, DRB3*01:07, DRB3*01:08, DRB3*01:09, DRB3*01:10, DRB3*01:11, DRB3*01:12, DRB3*01:13, DRB3*01:14,
    DRB3*02:01, DRB3*02:02, DRB3*02:03, DRB3*02:04, DRB3*02:05, DRB3*02:06, DRB3*02:07, DRB3*02:08, DRB3*02:09,
    DRB3*02:10, DRB3*02:11, DRB3*02:12, DRB3*02:13, DRB3*02:14, DRB3*02:15, DRB3*02:16, DRB3*02:17, DRB3*02:18,
    DRB3*02:19, DRB3*02:20, DRB3*02:21, DRB3*02:22, DRB3*02:23, DRB3*02:24, DRB3*02:25, DRB3*03:01, DRB3*03:02 and
    DRB3*03:03. The sequence shown is that of DRB3*01:01. Allele DRB3*01:01 belongs to an ancestral haplotype and is
    associated with autoimmune diseases that are linked to antigen presentation. It is found in more than 95% of the
    homozygous HPA-1B mothers that produce anti-HPA-1A antibodies, this leads to neonatal alloimmune thrombocytopenia
    (NAIT)


    Selected SNPs for HLA-DRB3 (see all 728)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs172096911,2
    F--32441108(+) CACAAA/TGTCTT 1 -- ds50011Minor allele frequency- T:0.28MN 46
    rs172096981,2
    F--32441109(+) ACAAAG/TTCTTA 1 -- ds50011Minor allele frequency- T:0.33MN 36
    rs132179791,2
    C,F--32441126(+) ATGGCC/TTGGGC 1 -- ds50014Minor allele frequency- T:0.08MN NA CSA 90
    rs94617561,2
    C,F--32441129(+) GCCTGG/AGCACA 1 -- ds50015Minor allele frequency- A:0.09MN WA CSA 136
    rs172033601,2
    F--32441144(+) TAACAA/CAACTC 1 -- ds50011Minor allele frequency- C:0.28MN 36
    rs122152611,2
    C,F,A--32441150(+) AACTCC/TCTATT 1 -- ds50018Minor allele frequency- T:0.43MN NA CSA 128
    rs172097191,2
    F--32441155(+) CCTATT/ATTCCC 1 -- ds50011Minor allele frequency- A:0.22MN 18
    rs172097261,2
    F--32441157(+) TATTTT/CCCCCA 1 -- ds50011Minor allele frequency- C:0.40MN 20
    rs92690821,2
    C,F,A--32441178(+) GCTCAG/ACACCC 1 -- ds500111Minor allele frequency- A:0.43MN NA WA CSA EA 455
    rs92690831,2
    C,F,A--32441193(+) TGTGCG/ACTTAT 1 -- ds50017Minor allele frequency- A:0.32MN NA WA CSA 95

    HapMap Linkage Disequilibrium report for HLA-DRB3 (3720951 - 3734018 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HLA-DRB3: --
    Locus Specific Mutation Databases (LSDB): HLA-DRB3

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing HLA-DRB3
    DNA2.0 Custom Variant and Variant Library Synthesis for HLA-DRB3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612735    OMIM disorders: --

    Selected diseases for HLA-DRB3 (see all 58):    
    About MalaCards
    fetal and neonatal alloimmune thrombocytopenia    pityriasis rosea    inclusion body myositis    autoimmune hepatitis
    lambert-eaton myasthenic syndrome    wolfram syndrome    ascariasis    churg-strauss syndrome
    trichuriasis    chronic graft versus host disease    diffuse panbronchiolitis    graves' disease
    myositis    alopecia areata    thrombotic thrombocytopenic purpura    type 1 diabetes
    abdominal aortic aneurysm    alopecia    toxoplasmosis    type 1 diabetes mellitus


    HLA-DRB3 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for HLA-DRB3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    graves disease 57.6 4 8320138 (2), 1450621 (1), 1979072 (1)

    Genetic Association Database (GAD): HLA-DRB3
    Human Genome Epidemiology (HuGE) Navigator: HLA-DRB3 (64 documents)

    Export disorders for HLA-DRB3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HLA-DRB3 gene, integrated from 10 sources (see all 204):
    (articles sorted by number of sources associating them with HLA-DRB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HLA-DRB4 as a genetic risk factor for Churg-Strauss syndrome. (PubMed id 17763415)1, 4, 9 Vaglio A....Neri T.M. (Arthritis Rheum. 2007)
    2. Human platelet antigen allele frequencies in different Algerian populations. (PubMed id 20149160)1, 4 Brouk H....Kaplan C. (Tissue Antigens 2010)
    3. Visual hallucinations and HLA class II antigens in cortical dementia. (PubMed id 20606439)1, 4 GA^mez-Tortosa E....CA!rdaba B. (Dement Geriatr Cogn Disord 2010)
    4. Human leukocyte antigen association in idiopathic thrombotic thrombocytopenic purpura: evidence for an immunogenetic link. (PubMed id 19922436)1, 4 Scully M....Machin S. (J. Thromb. Haemost. 2010)
    5. The impact of anti-HY responses on outcome in current and subsequent pregnancies of patients with recurrent pregnancy losses. (PubMed id 20307907)1, 4 Christiansen O.B....Nielsen H.S. (J. Reprod. Immunol. 2010)
    6. Frequency and impact of obstetric complications prior and subsequent to unexplained secondary recurrent miscarriage. (PubMed id 20395221)1, 4 Nielsen H.S....Christiansen O.B. (Hum. Reprod. 2010)
    7. Association of HY-restricting HLA class II alleles with pregnancy outcome in patients with recurrent miscarriage subsequent to a firstborn boy. (PubMed id 19223392)1, 4 Nielsen H.S....Christiansen O.B. (Hum. Mol. Genet. 2009)
    8. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    9. Additional sequence analysis outside exon 2 clarifies DRB1*12 and DRB1*14 allelic frequencies in Koreans. (PubMed id 19286445)1, 4 Lee K.W. and Jung Y.A. (Hum. Immunol. 2009)
    10. Long-range linkage on chromosome 6p of VEGF, FKBP5, HLA and TNF alleles associated with transplant rejection. (PubMed id 19233472)1, 4 Chen Y....Hutchinson I.V. (Mol. Immunol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3125 HGNC: 4951 Ensembl:ENSG00000230463 euGenes: HUgn3125 ECgene: HLA-DRB3 Kegg: 3125
    H-InvDB: HLA-DRB3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HLA-DRB3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HLA-DRB3 gene:
    Search GeneIP for patents involving HLA-DRB3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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