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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HLA-DRB3 Gene

protein-coding   GIFtS: 47
GCID: GC06Mi32479

major histocompatibility complex, class II, DR beta 3


(Previous symbol: HLA-DR3B)
 Explore 51 diseases affiliated with
HLA-DRB3 via our new
 Human Malady Compendium 
Biological research products
for HLA-DRB3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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 GC06Mj32451


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HLA-DRB3:
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)

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 miroenvironment 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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for HLA-DRB3
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 ALT_REF_LOCI_1, 6p21.3 ALT_REF_LOCI_2, 6p21.3 ALT_REF_LOCI_6

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Mi32479:  view genomic region     (about GC identifiers)

Start:
32,470,408 bp from pter      End:
32,492,394 bp from pter
Size:
21,987 bases      Orientation:
minus strand

1 alternative location:
Chr6-,ALT_REF_LOCI_2 32,411,911-32,464,179     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: 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
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P79483

  • HLA-DRB3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_072049.2  
    ENSEMBL proteins: 
     ENSP00000416022  
    Reactome Protein details: P79483
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005765lysosomal membrane TAS--
    GO:0005789endoplasmic reticulum membrane ----
    GO:0005794Golgi apparatus ----
    GO:0005886plasma membrane TAS--


    HLA-DRB3 for ontologies           About GeneDecksing



    HLA-DRB3 Antibody Products: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HLA-DRB3 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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 miroenvironment 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

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/29 super-pathways (see all 29About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Allograft rejection
    8/10 pathways (see all 10)
    Allograft rejection1.00
    THC Differentiation Pathway0.39
    Type I diabetes mellitus0.67
    CTL Mediated Apoptosis0.38
    Graft-versus-host disease0.63
    Intestinal immune network for IgA production0.38
    Autoimmune thyroid disease0.60
    Viral myocarditis0.33
    2Transport of MHC II:Ii complex along Golgi to TGN
    Transport of MHC II:Ii complex to plasma membrane1.00
    Trafficking of nonameric complex in the endocytic pathway1.00
    Transport of MHC II:Ii complex along Golgi to TGN1.00
    Internalization of MHC II:Ii clathrin coated vesicle0.52
    Insertion of MHC II:Ii complex in to the plasma membrane1.00
    3Translocation of ZAP-70 to Immunological synapse
    Translocation of ZAP-70 to Immunological synapse1.00
    PD-1 signaling0.76
    Phosphorylation of CD3 and TCR zeta chains0.85
    Generation of second messenger molecules0.64
    4ICos-ICosL Pathway in T-Helper Cell
    ICos-ICosL Pathway in T-Helper Cell1.00
    Calcium Mediated T-Cell Apoptosis0.31
    CD28 Signaling in T-Helper Cell0.66
    5PKC-Theta Pathway
    PKC-Theta Pathway1.00
    ITK and TCR Signaling0.54
    TCR Signaling0.68

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/6 EMD Millipore Pathways for HLA-DRB3 (see all 6)
        Immune response Antigen presentation by MHC class II
    G-protein signaling N-RAS regulation pathway
    Immune response IL-22 signaling pathway
    Immune response NFAT in immune response
    Immune response ICOS pathway in T-helper cell

    5/12 Downloadable PowerPoint Slides of QIAGEN 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

    5/6 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

    5/20        Reactome Pathways for HLA-DRB3 (see all 20)
        Internalization of MHC II:Ii clathrin coated vesicle
    Costimulation by the CD28 family
    Transport of MHC II:Ii complex along Golgi to TGN
    Transport of MHC II:Ii complex to plasma membrane
    Transport of antigen loaded MHC II molecules to surface


    5/18         Kegg Pathways  (Kegg details for HLA-DRB3) (see all 18):
        Phagosome
    Cell adhesion molecules (CAMs)
    Antigen processing and presentation
    Hematopoietic cell lineage
    Intestinal immune network for IgA production


    HLA-DRB3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HLA-DRB3

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

    5/52 Interacting proteins for HLA-DRB3 (P794833 ENSP000004160224) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    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): 5/19 biological process terms (GO ID links to tree view) (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:0002504antigen processing and presentation of peptide or polysaccharide antigen via MHC class II ----
    GO:0006955immune response TAS10609818


    HLA-DRB3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HLA-DRB3
    Search CenterWatch for drugs/clinical trials and news about HLA-DRB3 / DRB3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HLA-DRB3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See HLA-DRB3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HLA-DRB3
        SABiosciences Custom PCR Arrays for HLA-DRB3
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    In Situ
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    (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
      --

    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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: DRB3_HUMAN, P79483
    Polymorphism: 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 alloimune thrombocytopenia
    (NAIT)


    10/652 NCBI SNPs in HLA-DRB3 are shown (see all 652    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(+) AACTCA/C/G/
            
    CTATT
    1 -- ds50018MN 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 (32470408 - 32492394 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HLA-DRB3: --
    Locus Specific Mutation Databases (LSDB): HLA-DRB3

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    (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.)
    About This Section

    HLA-DRB3 for disorders           About GeneDecksing

    OMIM gene information: 612735    OMIM disorders: --

    20/51 diseases for HLA-DRB3 (see all 51):    About MalaCards
    lambert-eaton myasthenic syndrome    churg-strauss syndrome    pityriasis rosea    inclusion body myositis
    neonatal alloimmune thrombocytopenia    graft versus host disease    abdominal aortic aneurysm    aortic aneurysm
    type 1 diabetes mellitus    alopecia areata    myasthenic syndrome    systemic lupus erythematosus
    lupus erythematosus    wolfram syndrome    diabetes mellitus    graves' disease
    gestational diabetes    ascariasis    trichuriasis    myositis

    1 Novoseek 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)
    About This Section

    PubMed articles for HLA-DRB3 gene, integrated from 9 sources (see all 197):
    (articles sorted by number of sources associating them with HLA-DRB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MHC class II stabilization at the surface of human dendritic cells is the result of maturation-dependent MARCH I down-regulation. (PubMed id 18305173)1, 2 De Gassart A....Gatti E. (2008)
    2. Crystallographic structure of the human leukocyte antigen DRA, DRB3*0101: models of a directional alloimmune response and autoimmunity. (PubMed id 17583734)1, 2 Parry C.S....Stern L.J. (2007)
    3. HLA-DRB1 and -DRB3 allele frequencies and haplotypic associations in Koreans. (PubMed id 15041167)1, 4 Song E.Y....Park M.H. (2004)
    4. Three new DRB alleles routinely identified by sequence-based typing: DRB1*010103, DRB1*0326 and DRB3*0219. (PubMed id 15496209)1, 2 Dubois V.... Gebuhrer L. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    7. HLA-DRB alleles and systemic lupus erythematosus in Jamaicans. (PubMed id 12144077)1, 4 Smikle M....Nicholson G. (2002)
    8. Identification of three new DRB3* (DRB3*0106, DRB3*0107 and DRB3*02022) alleles. (PubMed id 11380956)1, 2 Tavoularis S.... Stephens S. (2001)
    9. HLA-DRB1*03, DRB1*11 or DRB1*12 and their respective DRB3 specificities in clinical variants of sarcoidosis. (PubMed id 11169267)1, 4 Bogunia-Kubik K....Lange A. (2001)
    10. DRB3 alleles with variations in the annealing sites of commonly used amplification primers. (PubMed id 10902611)1, 2 Coquillard G.J.... Hurley C.K. (2000)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 3125 HGNC: 4951 Ensembl:ENSG00000230463 euGenes: HUgn3125 ECgene: HLA-DRB3 Kegg: 3125
    H-InvDB: HLA-DRB3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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