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    HLA-DRB1 major histocompatibility complex, class II, DR beta 1 [ Homo sapiens (human) ]

    Gene ID: 3123, updated on 19-May-2013
    Official Symbol
    HLA-DRB1provided by HGNC
    Official Full Name
    major histocompatibility complex, class II, DR beta 1provided by HGNC
    Primary source
    HGNC:4948
    Locus tag
    XXbac-BPG161M6.1
    See related
    Ensembl:ENSG00000196126; HPRD:08349; MIM:142857; Vega:OTTHUMG00000031196
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SS1; DRB1; DRw10; HLA-DRB; HLA-DR1B
    Summary
    HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]
    Location :
    6p21.3
    Sequence :
    Chromosome: 6; NC_000006.11 (32546546..32557613, complement)
    See HLA-DRB1 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene major histocompatibility complex, class II, DR beta 5 Neighboring gene major histocompatibility complex, class II, DR beta 6 (pseudogene) Neighboring gene major histocompatibility complex, class II, DQ alpha 1 Neighboring gene major histocompatibility complex, class II, DQ beta 1

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Associations between HLA-DRB1*0102, HLA-B*5801, and hepatotoxicity during initiation of nevirapine-containing regimens in South Africa. Phillips E, et al. J Acquir Immune Defic Syndr, 2013 Feb 1. PMID 23328091.
    2. T cell epitope mapping of JC polyoma virus-encoded proteome reveals reduced T cell responses in HLA-DRB1*04:01+ donors. Jelcic I, et al. J Virol, 2013 Mar. PMID 23302880.
    3. Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis. LeishGEN Consortium, et al. Nat Genet, 2013 Feb. PMID 23291585.
    4. Identification of a novel motif that affects the conformation and activity of the MARCH1 E3 ubiquitin ligase. Bourgeois-Daigneault MC, et al. J Cell Sci, 2013 Feb 15. PMID 23264739.
    5. Crystal structure of the HLA-DM-HLA-DR1 complex defines mechanisms for rapid peptide selection. Pos W, et al. Cell, 2012 Dec 21. PMID 23260142.

    See all (2215) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. A meta-analysis suggest that DRB1*04, DRB1*08 and DRB1*14 are statistically significant susceptibility factors for pemphigus vulgaris.
      Title: Association between HLA-DRB1 polymorphisms and pemphigus vulgaris: a meta-analysis.
    2. HLA DR1 appears to be associated with the development of basal cell cardinoma, as well as with the higher number of non melanoma lesions in renal transplant patients.
      Title: Positivity for HLA DR1 is associated with basal cell carcinoma in renal transplant patients in southern Brazil.
    3. the present study reveals that younger blood donors and male blood donors who respectively exhibit the DRB1*08 and DRB1*09 alleles are more susceptible to intensification of hepatitis B virus infection.
      Title: Association between HLA-DRB1* polymorphisms and hepatitis B infection in a brazilian population.
    4. Ultraviolet radiation exposure and vitamin D seem to affect risk of multiple sclerosis in adults independently of HLA-DRB1*15 status.
      Title: Sunlight is associated with decreased multiple sclerosis risk: no interaction with human leukocyte antigen-DRB1*15.
    5. Anti-IFN-gamma autoantibodies may play a critical role in the pathogenesis of nontuberculous mycobacterial infections and reactivation of latent varicella-zoster virus infection and are associated with HLA-DRB1*16:02 and HLA-DQB1*05:02.
      Title: Anti-IFN-γ autoantibodies in adults with disseminated nontuberculous mycobacterial infections are associated with HLA-DRB1*16:02 and HLA-DQB1*05:02 and the reactivation of latent varicella-zoster virus infection.
    6. a specific interaction between the HLA-DRB1*04 gene and smoking is associated with a high cardiovascular risk status
      Title: Interaction between smoking and HLA-DRB1*04 gene is associated with a high cardiovascular risk in Brazilian Amazon patients with rheumatoid arthritis.
    7. Heterozygotic DRB1*04:01+ individuals showed very low T cell responses to JC virus together with normal anti-VP1 antibody levels and no urinary viral shedding, indicating a dominant-negative effect of this allele on global virus-directed T cell responses.
      Title: T cell epitope mapping of JC polyoma virus-encoded proteome reveals reduced T cell responses in HLA-DRB1*04:01+ donors.
    8. an additional CD susceptibility factor is present in the ancestral haplotype 8.1 but not in other DRB1*03ratio01-carrying haplotypes
      Title: HLA and celiac disease susceptibility: new genetic factors bring open questions about the HLA influence and gene-dosage effects.
    9. Data indicate that 25 +/- 1.3% of CD74 and 17 +/- 0.3% of HLA-DR are colocalized.
      Title: Interaction of HLA-DR and CD74 at the cell surface of antigen-presenting cells by single particle image analysis.
    10. a role of VDREs in the promoter region of the DRB1 gene in susceptibility to MS carried by DRB1* alleles in Sardinian patients
      Title: Vitamin D responsive elements within the HLA-DRB1 promoter region in Sardinian multiple sclerosis associated alleles.
    Submit: New GeneRIF Correction See all (711)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Multiple sclerosis susceptibility

    Summary from GeneReviews: Multiple Sclerosis Overview Go to GeneReviews

    Disease Characteristics
    Multiple sclerosis (MS) is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system (CNS) of unknown etiology. The peak onset is between age 20 and 40 years; it may develop in children and has also been identified in persons over age 60 years. Women are affected approximately twice as often as men. The most common clinical signs and symptoms, occurring in isolation or in combination, include sensory disturbance of the limbs (~30%), partial or complete visual loss (~15%), acute and subacute motor dysfunction of the limbs (~13%), diplopia (7%), and gait dysfunction (5%). The course may be relapsing-remitting or progressive, severe or mild, and may involve the entire neuroaxis in a widespread fashion or predominantly affect the spinal cord and optic nerves. The four clinical phenotypes of MS are: relapsing-remitting MS (RR-MS) (initially occurring in more than 80% of individuals with MS); primary progressive MS (PP-MS) (occurring in 10%-20% of individuals with MS); progressive relapsing MS (PR-MS) (a rare form); and secondary progressive MS (SP-MS), to which approximately half of all persons diagnosed with RR-MS convert within a decade after the initial diagnosis.
    Diagnosis Testing
    Multiple sclerosis is primarily a clinical diagnosis. The RR-MS phenotype is diagnosed in individuals who have (1) at least two clinical attacks (each lasting >/=24 hours and separated by >/=1 month) or a slow, progressive course for at least six months, and (2) lesions in more than one area or functional system of the brain or spinal cord. Diagnostic criteria for PP-MS include a minimum period of clinical progression of at least 12 months and onset between age 25 and 65 years; three proposed categories include definite PP-MS, probable PP-MS, and possible PP-MS. More recent diagnostic criteria specifically integrate MRI with clinical and paraclinical methods.
    Genetic Counseling
    Available data suggest that multiple sclerosis is inherited as a complex multifactorial disorder that results from the interaction of genetic and environmental factors. Estimated risk to the sibs of a proband is 3.0%-5.0%, increasing to 29.5% if one or both parents have MS. Risk to the offspring of a person with MS is 2.0%-3.0% and higher if both parents have MS.
    References

    NHGRI GWAS Catalog

    show more
    Protein Gene Interaction Pubs
    Env, gp160, envelope glycoprotein env Antibodies against cell surface molecules LFA-1, ICAM-1, HLA-DR, and CD28 inhibit the HIV-1 gp160-induced B cell differentiation response; gp160 also induces IL-6R and CD23 molecule expression on B cells PubMed
    env Processing of HIV-1 gp160 to gp120 and gp41 is necessary for the association of HIV-1 envelope glycoproteins with class II MHC PubMed
    Envelope surface glycoprotein gp120 env CD4+ T cells infected with CCR5-tropic HIV-1 have significantly higher levels of activation-marker expression (e.g. CD25, CD71 and HLA-DR) than CD4+ T lymphocytes infected with CXCR4-tropic HIV-1 PubMed
    env Amino acid residues 42-49 in the V1 region of CD4 are involved in the interaction between HIV-1 gp120 and class II major histocompatibility complex molecules PubMed
    env Genetic variability in HIV-1 gp120 affects its interactions with HLA-DR molecules and T cell receptor PubMed
    env HIV envelope protein gp120 can specifically inhibit CD4-dependent class II MHC-restricted T cell response to Ag PubMed
    Envelope transmembrane glycoprotein gp41 env Soluble HIV-1 gp41 enhancement effects on MHC class I and II antigen expression can be inhibited by soluble gp41-binding proteins of 45, 49 and 62 kD from human B cells PubMed
    env Soluble HIV-1 gp41 can selectively enhance MHC class I and II expression on human B cells, but does not increase expression of other cell surface antigens such as CD21 and CD54 (ICAM-1) PubMed
    env A 43-amino-acid sequence between amino acids 708 and 750 in the HIV-1 gp41(TM) cytoplasmic tail is required for efficient incorporation of HLA class II proteins into virions PubMed
    Gag, Pr55 gag HIV-1 Gag virus-like particles efficiently activate human monocyte-derived dendritic cells (MDDC) and induce MDDC maturation with an associated increase in the surface expression of CD80, CD86 and MHC classes I and II PubMed
    gag Two peptides of the CA domain of HIV-1 Gag, VDRFYKTLRAEQASQ and DRFYKLTRAEQASQ, are presented on MHC II molecules of dendritic cells and have similar sensitivity for antigen-specific T cells PubMed
    gag HIV-1 Gag virus-like particle-induced monocyte activation is shown by upregulation of molecules involved in antigen presentation (MHC II, CD80, CD86) and cell adhesion (CD54) PubMed
    gag Human Leukocyte Antigen DR (HLA-DR), Major Histocompatibility Complex class II molecules (MHC-II) induce a relocation of Gag to late endosomal/multivesicular bodies (LE/MVB) and increase the accumulation of viral particles assembling intracellularly PubMed
    gag HIV-1 Gag expression is able to induce HLA-DR cell-surface localization in H78-C10.0 cells PubMed
    gag In human macrophages, HIV-1 Gag proteins co-localize with MHC II (HLA-DR), CD63, and Lamp1 in MHC II compartments PubMed
    Nef, p27 nef HIV-1 Nef impairs IL-4/GM-CSF-stimulated THP-1 differentiation towards immature DCs, which leads to the lower levels of CD11C, CD40, and HLA-DR protein expression from the cell surface PubMed
    nef Four large regions (residues 1-36, 66-97, 117-147, and 182-205) of HIV-1 Nef bind efficiently to eight HLA-DR molecules PubMed
    nef HIV-1 Nef-pulsed mDCs downregulate HLA-DR expression and upregulate CD25 and CCR7 expression in NK cells PubMed
    nef Nef-triggered MHCII endocytosis requires Rab5 activity and lyst function, whereas lysosomal trafficking of internalized MHCII molecules requires Rab7 activity PubMed
    nef Monoclonal antibodies to the cell surface molecule human lymphocyte antigen-DR inhibit the Nef-induced B-cell differentiation response, suggesting an interaction between Nef and human lymphocyte antigen-DR PubMed
    Tat, p14 tat HIV-1 Tat downregulates expression of MHC class II genes in antigen-presenting cells (APC) by inhibiting the transactivator of MHC class II genes, CIITA PubMed
    tat HIV-1 Tat upregulates HLA-DR expression in monocyte-derived dendritic cells and T cells, thereby driving T cell-mediated immune responses and activation PubMed
    Vpu, p16 vpu HIV-1 Vpu interacts with CD74 and modulates MHC II in HIV-1-infected cells PubMed
    capsid gag HIV-1 Capsid (p24) inhibits interferon gamma induced increases in HLA-DR and cytochrome B heavy chain mRNA levels in the human monocyte-like cell line THP1 PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    P01912 P78358 CTAG1B    HPRD  PubMed  
    P01912 P28067 HLA-DMA    HPRD  PubMed  
    P01912 P01903 HLA-DRA    HPRD  PubMed  
    P01912 T cell antigen receptor, alpha     HPRD  PubMed  
    P01912 T cell antigen receptor, beta     HPRD  PubMed  
    P20039 P78358 CTAG1B    HPRD  PubMed  
    P20039 P01903 HLA-DRA    HPRD  PubMed  
    BioGRID:109368 BioGRID:106808 ANXA11    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109368 BioGRID:106971 ATP1B1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109368 BioGRID:109353 HLA-DMA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109368 BioGRID:109552 HSP90AA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109368 BioGRID:109558 HSP90AB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109368 BioGRID:109544 HSPA8    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109368 BioGRID:110276 MAGEA3    BioGRID  PubMed Protein-peptide 
    BioGRID:109368 BioGRID:120348 MARCH1    BioGRID  PubMed FRET 
    BioGRID:109368 BioGRID:107369 MS4A1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109368 BioGRID:111332 PKM    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109368 BioGRID:112815 TRA    BioGRID  PubMed Co-crystal Structure 
    BioGRID:109368 BioGRID:112615 TRIM21    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:109368 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:109368 BioGRID:113258 VCP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109368 BioGRID:113363 YWHAE    BioGRID  PubMed Affinity Capture-MS 
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    • Antigen processing and presentation, organism-specific biosystem (from KEGG)
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    • Epstein-Barr virus infection, organism-specific biosystem (from KEGG)
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    • Epstein-Barr virus infection, conserved biosystem (from KEGG)
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    • Generation of second messenger molecules, organism-specific biosystem (from REACTOME)
      Generation of second messenger molecules, organism-specific biosystemIn addition to serving as a scaffold via auto-phosphorylation, ZAP-70 also phosphorylates a restricted set of substrates following TCR stimulation - including LAT and SLP-76. These substrates have be...
    • Graft-versus-host disease, organism-specific biosystem (from KEGG)
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    • Graft-versus-host disease, conserved biosystem (from KEGG)
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    • IL12 signaling mediated by STAT4, organism-specific biosystem (from Pathway Interaction Database)
      IL12 signaling mediated by STAT4, organism-specific biosystem
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      Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Type I diabetes mellitus, organism-specific biosystem (from KEGG)
      Type I diabetes mellitus, organism-specific biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    • Type I diabetes mellitus, conserved biosystem (from KEGG)
      Type I diabetes mellitus, conserved biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    • Viral myocarditis, organism-specific biosystem (from KEGG)
      Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ75017, FLJ76359

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    MHC class II receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    MHC class II receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    peptide antigen binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    T cell costimulation TAS
    Traceable Author Statement
    more info
    		  
    T cell receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    T-helper 1 type immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
    Traceable Author Statement
    more info
    		  
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    detection of bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    humoral immune response mediated by circulating immunoglobulin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    humoral immune response mediated by circulating immunoglobulin ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    immune response NAS
    Non-traceable Author Statement
    more info
    		  
    immunoglobulin production involved in immunoglobulin mediated immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    immunoglobulin production involved in immunoglobulin mediated immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    inflammatory response to antigenic stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    negative regulation of T cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    negative regulation of interferon-gamma production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    positive regulation of insulin secretion involved in cellular response to glucose stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    protein tetramerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of interleukin-10 secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of interleukin-4 production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    MHC class II protein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    external side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    integral to lumenal side of endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    late endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    lysosomal membrane TAS
    Traceable Author Statement
    more info
    		  
    membrane NAS
    Non-traceable Author Statement
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
    		  
    transport vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    Preferred Names
    major histocompatibility complex, class II, DR beta 1
    Names
    major histocompatibility complex, class II, DR beta 1
    DW2.2/DR2.2
    MHC class II antigen
    lymphocyte antigen DRB1
    MHC class II HLA-DRw10-beta
    human leucocyte antigen DRB1
    MHC class II HLA-DR beta 1 chain
    MHC class II HLA-DR-beta cell surface glycoprotein
    HLA class II histocompatibility antigen, DR-1 beta chain

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_002392.2 Reference

      Range
      124255..137657, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    2. NG_002432.1 Reference

      Range
      126037..137104, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    3. NG_002433.1 Reference

      Range
      131614..146346, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243965.1 → NP_001230894.1  major histocompatibility complex, class II, DR beta 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the DRB1*03:01:01:01 allele of the HLA-DRB1 gene, as represented in the alternate locus group ALT_REF_LOCI_2 of the reference genome.
      Source sequence(s)
      AL662842, BM671866, X00699
      UniProtKB/Swiss-Prot
      P01912
      UniProtKB/TrEMBL
      Q5Y7D1
      Conserved Domains (2) summary
      pfam00969
      Location:42 – 116
      Blast Score: 405
      MHC_II_beta; Class II histocompatibility antigen, beta domain
      cl11960
      Location:126 – 219
      Blast Score: 365
      Ig; Immunoglobulin domain

    2. NM_002124.3 → NP_002115.2  major histocompatibility complex, class II, DR beta 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the DRB1*15:01:01:01 allele of the HLA-DRB1 gene, as represented in the assembled chromosome 6 in the primary assembly of the reference genome.
      Source sequence(s)
      AK291987, BC033827
      Consensus CDS
      CCDS47409.1
      UniProtKB/TrEMBL
      D7RIH8
      UniProtKB/Swiss-Prot
      P01911
      UniProtKB/Swiss-Prot
      Q29974
      Related
      ENSP00000353099, OTTHUMP00000029282, ENST00000360004, OTTHUMT00000076393
      Conserved Domains (2) summary
      pfam00969
      Location:43 – 116
      Blast Score: 421
      MHC_II_beta; Class II histocompatibility antigen, beta domain
      cl11960
      Location:126 – 219
      Blast Score: 367
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.2 Reference GRCh37.p10 ALT_REF_LOCI_2

      Range
      3998151..4011553, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.1 Reference GRCh37.p10 ALT_REF_LOCI_6

      Range
      3784600..3798012, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.1 Reference GRCh37.p10 ALT_REF_LOCI_7

      Range
      3978426..3993164, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p10 Primary Assembly

      Range
      32546546..32557613, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018917.1 Alternate CHM1_1.0

      Range
      32464427..32475491, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AB007634.1 BAA22609.1
    genomic AB046526.1 BAB03347.1
    genomic AB049829.1 BAB16681.1
    genomic AB087875.1 BAC02938.1
    genomic AB087876.1 BAC02939.1
    genomic AB106127.1 BAC66086.1
    genomic AB176445.1 BAD15071.1
    genomic AB196528.1 BAD80735.1
    genomic AB512677.1 BAH85282.1
    genomic AF016225.1 AAB70217.1
    genomic AF028011.1 AAB94613.1
    genomic AF029267.1 AAF65477.1
    genomic AF029269.1 AAF65479.1
    genomic AF029270.1 AAF65480.1
    genomic AF029271.1 AAF65481.1
    genomic AF029272.1 AAF65482.1
    genomic AF029273.1 AAF65483.1
    genomic AF029274.1 AAF65484.1
    genomic AF029275.1 AAF65485.1
    genomic AF029277.1 AAF65486.1
    genomic AF029278.1 AAF65487.1
    genomic AF029279.1 AAF65488.1
    genomic AF029289.1 AAF65498.1
    genomic AF029290.1 AAF65499.1
    genomic AF029292.1 AAF65501.1
    genomic AF030439.1 AAB92519.1
    genomic AF049875.1 AAC05276.1
    genomic AF092562.1 AAD03597.1
    genomic AF101127.1 AAD16437.1
    genomic AF112876.1 AAD29581.1
    genomic AF121971.1 AAD24059.1
    genomic AF142444.1 AAD31288.1
    genomic AF142447.1 AAD31291.1
    genomic AF142449.1 AAD31293.1
    genomic AF142450.1 AAD31294.1
    genomic AF142452.1 AAD31296.1
    genomic AF142453.1 AAD31297.1
    genomic AF142454.1 AAD31298.1
    genomic AF142455.1 AAD31299.1
    genomic AF142456.1 AAD31300.1
    genomic AF142457.1 AAD31301.1
    genomic AF142458.1 AAD31302.1
    genomic AF142461.1 AAD31305.1
    genomic AF142462.1 AAD31306.1
    genomic AF142464.1 AAD31308.1
    genomic AF142467.1 AAD31311.1
    genomic AF142468.1 AAD31312.1
    genomic AF144105.1 AAD38374.1
    genomic AF169238.1 AAD51314.1
    genomic AF172070.1 AAD51969.1
    genomic AF172071.1 AAD51970.1
    genomic AF190132.1 AAF08286.1
    genomic AF191104.1 AAF03162.1
    genomic AF217961.1 AAF32310.1
    genomic AF225565.1 AAF65542.1
    genomic AF239244.1 AAF59946.1
    genomic AF243536.1 AAG00413.1
    genomic AF278701.1 AAF87751.1
    genomic AF297459.1 AAG17449.1
    genomic AF327742.1 AAK08492.1
    genomic AF327743.1 AAK08493.1
    genomic AF330103.1 AAK08504.1
    genomic AF335231.1 AAK20873.1
    genomic AF352291.1 AAK27708.1
    genomic AF352292.1 AAK27709.1
    genomic AF352293.1 AAK27710.1
    genomic AF352296.1 AAK27713.1
    genomic AF363727.1 AAK51524.1
    genomic AF363728.1 AAK51525.1
    genomic AF373015.2 AAK54252.2
    genomic AF400066.1 AAK85431.1
    genomic AF406781.1 AAK96249.1
    genomic AF439712.1 AAL35224.1
    genomic AF479570.1 AAM09473.1
    genomic AF491843.1 AAM09543.1
    genomic AF497643.1 AAM18713.1
    genomic AJ001252.1 CAA04626.1
    genomic AJ001253.1 CAA04627.1
    genomic AJ001254.1 CAA04628.1
    genomic AJ010982.1 CAA09450.1
    genomic AJ133492.1 CAB76922.1
    genomic AJ238154.1 CAB41972.1
    genomic AJ238410.1 CAB42824.1
    genomic AJ242985.1 CAB45249.1
    genomic AJ243327.1 CAB56638.1
    genomic AJ249626.1 CAB56284.1
    genomic AJ276711.1 CAB87811.1
    genomic AJ278491.1 CAB95662.1
    genomic AJ293861.1 CAC05373.1
    genomic AJ295845.1 CAC08181.1
    genomic AJ306419.1 CAC32843.1
    genomic AJ309930.1 CAC33572.1
    genomic AJ311892.1 CAC44767.1
    genomic AJ430192.1 CAD22866.1
    genomic AJ430382.1 CAD23046.1
    genomic AJ431718.1 CAD24479.1
    genomic AJ441130.2 CAD29646.2
    genomic AJ507782.1 CAD47818.1
    genomic AJ539472.1 CAD62436.1
    genomic AJ543433.1 CAD65908.1
    genomic AJ555156.1 CAD87537.1
    genomic AJ555541.1 CAD88257.1
    genomic AJ556173.1 CAD89003.1
    genomic AJ558180.1 CAD90053.1
    genomic AJ558181.1 CAD90054.1
    genomic AJ566209.1 CAD92860.1
    genomic AJ579780.1 CAE30289.1
    genomic AJ581744.1 CAE46451.1
    genomic AJ581747.1 CAE46444.1
    genomic AJ850053.1 CAH61416.1
    genomic AJ870972.1 CAI35917.1
    genomic AJ884667.1 CAI59633.1
    genomic AJ969417.1 CAI94542.1
    genomic AL137064.6 CAC19360.1
    genomic AL662842.3 (76108..89508) None
    genomic AL713966.7 (112709..123725) None
    genomic AL929581.5 (86719..100131) None
    genomic AM000026.2 CAJ00865.2
    genomic AM109975.1 CAJ33582.1
    genomic AM109976.1 CAJ33583.1
    genomic AM109977.1 CAJ33584.1
    genomic AM109978.1 CAJ33585.1
    genomic AM109979.1 CAJ33586.1
    genomic AM109980.1 CAJ33587.1
    genomic AM109981.1 CAJ33588.1
    genomic AM109982.1 CAJ33589.1
    genomic AM109984.1 CAJ33591.1
    genomic AM109985.1 CAJ33592.1
    genomic AM109986.1 CAJ33593.1
    genomic AM109987.1 CAJ33594.1
    genomic AM109988.1 CAJ33595.1
    genomic AM109992.1 CAJ33599.1
    genomic AM109993.1 CAJ33600.1
    genomic AM109994.1 CAJ33601.1
    genomic AM109996.1 CAJ33603.1
    genomic AM109997.1 CAJ33604.1
    genomic AM109999.1 CAJ33606.1
    genomic AM110000.1 CAJ33607.1
    genomic AM110001.1 CAJ33608.1
    genomic AM233907.1 CAJ80873.1
    genomic AM773422.1 CAO79098.1
    genomic AM910430.1 CAP45391.1
    genomic AM920688.1 CAP47342.1
    genomic AM933133.1 CAP69806.1
    genomic AMYH01016239.1 (155386..166450) None
    genomic AY034875.1 AAK61607.1
    genomic AY036907.1 AAK67648.1
    genomic AY152671.1 AAN38832.1
    genomic AY158889.1 AAO49837.1
    genomic AY174180.1 AAO17052.1
    genomic AY174183.1 AAO17055.1
    genomic AY179369.1 AAO23240.1
    genomic AY259125.1 AAP21611.1
    genomic AY265414.1 AAP21813.1
    genomic AY271987.1 AAP23231.1
    genomic AY428811.1 AAR29079.1
    genomic AY429729.1 AAR10883.1
    genomic AY504815.1 AAR98646.1
    genomic AY504962.1 AAR98758.1
    genomic AY525097.1 AAS19443.1
    genomic AY660006.1 AAT72340.1
    genomic AY663395.1 AAU87979.1
    genomic AY663400.1 AAU87993.1
    genomic AY663404.1 AAU88003.1
    genomic AY663405.1 AAU88005.1
    genomic AY663406.1 AAU88008.1
    genomic AY663408.1 AAU88014.1
    genomic AY663409.1 AAU88018.1
    genomic AY663411.1 AAU88023.1
    genomic AY663413.1 AAU88029.1
    genomic AY663414.1 AAU88033.1
    genomic AY663415.1 AAU88035.1
    genomic AY714542.1 AAW57989.1
    genomic AY730638.1 AAU44812.1
    genomic AY766103.2 AAW47394.2
    genomic AY776333.1 AAV52249.1
    genomic AY912075.1 AAY17288.1
    genomic CH471081.1 EAX03633.1
    genomic D45046.1 BAA08086.1
    genomic D49823.1 BAA08628.1
    genomic D64041.1 BAA10906.1
    genomic D86504.1 BAA13099.1
    genomic D89917.1 BAA20564.1
    genomic DQ060441.1 AAY59543.1
    genomic DQ112549.1 AAZ16488.1
    genomic DQ179043.1 ABA06601.1
    genomic DQ235685.1 ABB52004.1
    genomic DQ333353.1 ABC59115.1
    genomic DQ525631.1 ABF74596.1
    genomic DQ835614.1 ABH03635.1
    genomic EF078990.1 ABK56700.1
    genomic EF495129.1 ABP01682.1
    genomic EU071688.1 ABS87347.1
    genomic EU716067.1 ACE63272.1
    genomic GQ245755.1 ADE73096.1
    genomic GQ245756.1 ADE73097.1
    genomic GQ245757.1 ADE73098.1
    genomic GQ245758.1 ADE73099.1
    genomic GU590986.1 ADD97875.1
    genomic GU811811.1 ADE73645.1
    genomic GU811812.1 ADE73646.1
    genomic GU811813.1 ADE73647.1
    genomic GU811814.1 ADE73648.1
    genomic GU811815.1 ADE73649.1
    genomic GU811816.1 ADE73650.1
    genomic GU811817.1 ADE73651.1
    genomic GU811818.1 ADE73652.1
    genomic GU811819.1 ADE73653.1
    genomic K02776.1 AAA59808.1
    genomic L06847.1 AAA75387.1
    genomic L10402.1 AAA51400.1
    genomic L14481.1 AAB59623.1
    genomic L22341.1 AAA93192.1
    genomic L23963.1 AAA67123.1
    genomic L27216.1 AAA59789.1
    genomic L27217.1 AAA99889.1
    genomic L29082.1 AAA93191.1
    genomic L34025.1 AAA74994.1
    genomic L79973.1 AAL40075.1
    genomic M13278.1 AAA59798.1
    genomic M22050.1 AAA59713.1
    genomic M27511.1 AAA59817.1
    genomic M27645.1 AAA72783.1
    genomic M35003.1 AAA35775.1
    genomic M35005.1 AAA35776.1
    genomic M57599.1 AAA36290.1
    genomic M60216.1 AAA36298.1
    genomic M63196.1 AAA52321.1
    genomic M63202.1 AAA52324.1
    genomic M63337.1 AAC41708.1
    genomic M63338.1 AAC41709.1
    genomic M64794.1 AAA36273.1
    genomic M81170.1 AAA91837.1
    genomic M84446.1 AAA59481.1
    genomic M86694.1 None
    genomic M94460.1 AAA59779.1
    genomic M96128.1 AAA03142.1
    genomic S69987.1 AAD14052.1
    genomic U02561.1 AAA53174.1
    genomic U24179.1 AAA91986.1
    genomic U26691.1 AAA67990.1
    genomic U33325.1 AAA75372.1
    genomic U36571.1 AAA79784.1
    genomic U36836.1 AAA79830.1
    genomic U45999.1 AAA87226.1
    genomic U59460.1 AAB06950.1
    genomic U63802.1 AAB08761.1
    genomic U88135.1 AAB63317.1
    genomic X16649.1 CAA34642.1
    genomic X52451.1 CAA36690.1
    genomic X64546.1 CAA45844.1
    genomic X74343.1 CAA52390.1
    genomic X88854.1 CAA61324.1
    genomic X99840.1 CAA68151.1
    genomic Y09665.1 CAA70858.1
    genomic Y15404.1 CAA75604.1
    genomic Y17272.1 CAA76721.1
    genomic Y17273.1 CAA76722.1
    genomic Z38072.1 CAA86217.1
    genomic Z84489.1 (61525..74927) None
    mRNA AF010142.1 AAB81176.1
    mRNA AF017440.1 AAB70554.1
    mRNA AF017441.1 AAB70555.1
    mRNA AF291675.1 AAK91825.1
    mRNA AF436097.1 AAL30416.1
    mRNA AJ297583.1 CAC08823.1
    mRNA AJ297585.1 CAC08825.1
    mRNA AJ297586.2 CAC08826.2
    mRNA AJ297587.1 CAC08827.1
    mRNA AJ697892.1 CAG27025.1
    mRNA AJ697893.1 CAG27026.1
    mRNA AK289463.1 BAF82152.1
    mRNA AK291987.1 BAF84676.1
    mRNA AY626551.1 AAV34808.1
    mRNA AY770514.1 AAV28303.1
    mRNA AY935719.1 AAX33315.1
    mRNA AY961062.1 AAX63450.1
    mRNA AY961063.1 AAX63451.1
    mRNA AY961065.1 AAX63453.1
    mRNA AY961066.1 AAX63454.1
    mRNA AY961068.1 AAX63456.1
    mRNA AY961072.1 AAX63460.1
    mRNA AY961073.1 AAX63461.1
    mRNA AY961076.1 AAX63464.1
    mRNA AY961077.1 AAX63465.1
    mRNA AY961078.1 AAX63466.1
    mRNA BC007920.2 AAH07920.1
    mRNA BC008403.1 AAH08403.1
    mRNA BC018832.2 None
    mRNA BC018834.2 None
    mRNA BC018835.2 None
    mRNA BC024269.1 AAH24269.1
    mRNA BC031023.1 AAH31023.1
    mRNA BC033827.1 AAH33827.1
    mRNA BC108922.1 AAI08923.1
    mRNA BM671866.1 None
    mRNA D86415.1 BAA13086.1
    mRNA DQ002917.1 AAY21682.1
    mRNA DQ090958.1 AAY96423.1
    mRNA DQ140279.1 AAZ76539.1
    mRNA L02545.1 AAA59777.1
    mRNA L42143.1 AAA67104.1
    mRNA L76133.1 AAL40069.1
    mRNA M11161.1 AAA59781.1
    mRNA M11867.1 AAA36274.1
    mRNA M14191.1 AAA36289.1
    mRNA M14661.1 AAA59799.1
    mRNA M14662.1 AAA59800.1
    mRNA M15069.1 AAA59809.1
    mRNA M15074.1 AAA59810.1
    mRNA M16957.1 AAA36279.1
    mRNA M16958.1 AAA36280.1
    mRNA M16959.1 AAA36281.1
    mRNA M17378.1 AAA59801.1
    mRNA M17381.1 AAA59805.1
    mRNA M17384.1 AAA36295.1
    mRNA M20138.1 AAA59832.1
    mRNA M20430.1 AAA59831.1
    mRNA M20504.1 AAA59827.1
    mRNA M21008.1 AAA59780.1
    mRNA M25265.1 AAA57260.1
    mRNA M25266.1 AAA57259.1
    mRNA M26038.1 AAA59794.1
    mRNA M27635.1 AAA81550.1
    mRNA M28583.1 AAA59680.1
    mRNA M28584.1 AAA59681.1
    mRNA M30179.1 AAA59842.1
    mRNA M33600.1 AAA59782.1
    mRNA U09201.1 AAA17992.1
    mRNA U37582.1 AAA79205.1
    mRNA U56640.1 AAC02715.1
    mRNA U65585.1 AAD43827.1
    mRNA U95817.1 AAD00817.1
    mRNA X00699.1 CAA25295.1
    mRNA X00700.1 CAA25296.1
    mRNA X02902.1 CAA26660.1
    mRNA X03069.1 CAA26873.1
    other-genetic HQ447401.1 ADQ31887.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P01911.2 GenPept UniProtKB/Swiss-Prot:P01911
    P01912.2 GenPept UniProtKB/Swiss-Prot:P01912
    P04229.2 GenPept UniProtKB/Swiss-Prot:P04229
    P20039.1 GenPept UniProtKB/Swiss-Prot:P20039
    Q29974.1 GenPept UniProtKB/Swiss-Prot:Q29974
    Q30134.2 GenPept UniProtKB/Swiss-Prot:Q30134
    Q30167.2 GenPept UniProtKB/Swiss-Prot:Q30167
    Q5Y7A7.1 GenPept UniProtKB/Swiss-Prot:Q5Y7A7
    Q95IE3.1 GenPept UniProtKB/Swiss-Prot:Q95IE3
    Q9GIY3.1 GenPept UniProtKB/Swiss-Prot:Q9GIY3

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioAssay, by Protein Target
        BioAssay, by Protein Target
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

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