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

HLA-DRB3 Gene

protein-coding   GIFtS: 51
GCID: GC06M8T3720

Major Histocompatibility Complex, Class II, DR Beta 3


(Previous symbol: HLA-DR3B)
Microbiology & Infectious Diseases Congress
  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)
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: ENSG000001961017   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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 pityriasis rosea, and lambert-eaton myasthenic syndrome, and among its related super-pathways are Allograft rejection and Costimulation by the CD28 family. 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 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 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 73), 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_QBLp21.32   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 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

1 alternative location:
Chr6-,NT_113891.2 3,934,127-3,947,195     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for HLA-DRB3 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of
    MHC class II (Probable)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P79483

  • HLA-DRB3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HLA-DRB3 Protein Expression
    REFSEQ proteins: NP_072049.2  
    ENSEMBL proteins: 
     ENSP00000302517  
    Reactome Protein details: P79483
    Human Recombinant Protein Products for HLA-DRB3: 
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    Novus Biologicals HLA-DRB3 Protein
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (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 to plasma membrane NAS6414998
    GO:0009897external side of plasma membrane IDA--

    HLA-DRB3 for ontologies           About GeneDecksing



    HLA-DRB3 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    HLA: Histocompatibility complex
    C1SET: Immunoglobulin superfamily / C1-set domain containing

    5/7 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 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

         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


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HLA-DRB3 
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    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate HLA-DRB3:
    hsa-miR-539 hsa-miR-580
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: HLA-DRB3 (NM_022555)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DRB3


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HLA-DRB3 About   (see all 29)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Allograft rejection
    Allograft rejection0.69
    Intestinal immune network for IgA production0.42
    Type I diabetes mellitus0.69
    THC Differentiation Pathway0.37
    Graft-versus-host disease0.65
    Antigen processing and presentation0.37
    Autoimmune thyroid disease0.62
    CTL Mediated Apoptosis0.36
    2CD28 co-stimulation
    Costimulation by the CD28 family0.41
    CTLA4 Signaling0.31
    3Translocation of ZAP-70 to Immunological synapse
    Translocation of ZAP-70 to Immunological synapse0.85
    PD-1 signaling0.77
    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 Cell0.66
    Calcium Mediated T-Cell Apoptosis0.31
    CD28 Signaling in T-Helper Cell0.66
    5Interferon Signaling
    Interferon Signaling0.61
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

    5/13        Reactome Pathways for HLA-DRB3 (see all 13)
        Interferon gamma signaling
    Costimulation by the CD28 family
    Cytokine Signaling in Immune system
    Adaptive Immune System
    Translocation of ZAP-70 to Immunological synapse


    5/22         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

    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)

    5/53 Interacting proteins for HLA-DRB3 (P794833 ENSP000003025174) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANXA11P509953, ENSP000002654474I2D: score=1 STRING: ENSP00000265447
    CTAG1AP783583I2D: score=1 
    CTAG1BP783583I2D: score=1 
    HSP90AB1P082383, ENSP000003258754I2D: score=1 STRING: ENSP00000325875
    HSPA8P111423, ENSP000002273784I2D: score=1 STRING: ENSP00000227378
    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: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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (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 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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    About This Section

    REFSEQ mRNAs for HLA-DRB3 gene: 
    NM_022555.3  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000307137(uc011ixa.2 uc011ixb.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Primer
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      QIAGEN 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™, 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 <intensity>2/3
    CGAP TAG: --
    HLA-DRB3 Expression
    About this image


    See HLA-DRB3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HLA-DRB3
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    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)
    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
    Paralogs for HLA-DRB3 gene
    18/119 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 DRB1    HLA-DR-beta 1
    MHC class II HLA DRB1    HLA-DR4    HLA-DR beta    DRB1 HAG    HLA-DR3    HLA-DRB1*0801

    HLA-DRB3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HLA-DRB3
    PGOHUM00000243149


    (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) 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)


    10/728 SNPs in HLA-DRB3 are shown (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
    ----------
    VAR_0333974
    ----see VAR_0333972 V A mis40--------
    VAR_0607724
    ----see VAR_0607722 G V mis40--------
    VAR_0607524
    ----see VAR_0607522 F L mis40--------
    VAR_0607584
    ----see VAR_0607582 T R mis40--------
    VAR_0607734
    ----see VAR_0607732 A T mis40--------
    VAR_0607464
    ----see VAR_0607462 Y F mis40--------
    VAR_0607684
    ----see VAR_0607682 R Q mis40--------
    VAR_0607554
    ----see VAR_0607552 L A mis40--------
    VAR_0607454
    ----see VAR_0607452 Y L mis40--------
    VAR_0607744
    ----see VAR_0607742 Q H mis40--------

    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
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing HLA-DRB3
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612735    OMIM disorders: --

    20/50 diseases for HLA-DRB3 (see all 50):    About MalaCards
    pityriasis rosea    lambert-eaton myasthenic syndrome    autoimmune hepatitis    wolfram syndrome
    inclusion body myositis    churg-strauss syndrome    ascariasis    chronic graft versus host disease
    trichuriasis    graves' disease    alopecia areata    myositis
    thrombocytopenia    narcolepsy    abdominal aortic aneurysm    alopecia
    type 1 diabetes    type 1 diabetes mellitus    gestational diabetes    graft versus host disease


    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)
    About This Section

    PubMed articles for HLA-DRB3 gene, integrated from 9 sources (see all 203):
    (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. (2007)
    2. Human platelet antigen allele frequencies in differen t Algerian populations. (PubMed id 20149160)1, 4 Brouk H....Kaplan C. (2010)
    3. Visual hallucinations and HLA class II antigens in co rtical dementia. (PubMed id 20606439)1, 4 GA^mez-Tortosa E....CA!rdaba B. (2010)
    4. Human leukocyte antigen association in idiopathic thr ombotic thrombocytopenic purpura: evidence for an immunogenetic link. (PubMed id 19922436)1, 4 Scully M....Machin S. (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. (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. (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. (2009)
    8. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (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. (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. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3125 HGNC: 4951 Ensembl:ENSG00000196101 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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