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    HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 [ Homo sapiens ]

    Gene ID: 3120, updated on 11-May-2012
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    Summary

    Official Symbol
    HLA-DQB2provided by HGNC
    Official Full Name
    major histocompatibility complex, class II, DQ beta 2provided by HGNC
    Primary source
    HGNC:4945
    Locus tag
    DAMA-367I24.2
    See related
    Ensembl:ENSG00000232629; HPRD:09983; HPRD:09984; Vega:OTTHUMG00000031125
    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
    HLA-DXB; HLA-DQB1
    Summary
    HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play 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). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010]
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    Genomic context

    Location :
    6p21
    Sequence :
    Chromosome: 6; NC_000006.11 (32723875..32731330, complement)
    See HLA-DQB2 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene major histocompatibility complex, class II, DQ alpha 2 Neighboring gene microRNA 3135b Neighboring gene major histocompatibility complex, class II, DO beta Neighboring gene transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. Chung SA, et al. PLoS Genet, 2011 Mar. PMID 21408207.
    3. Differences in self-peptide binding between T1D-related susceptible and protective DR4 subtypes. Ge X, et al. J Autoimmun, 2011 Mar. PMID 21257290.
    4. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. Ucisik-Akkaya E, et al. Mol Hum Reprod, 2010 Oct. PMID 20587610.
    5. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496.

    See all (34) citations in PubMed

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

    1. Data show that two peptides with naturally processed DQ8 (DQA1 *0301/DQB1 *0302) epitopes bound protective DR0403 with longer half-life and lower dissociation rate than susceptible DR0401, confirming DR0403 as a better peptide competitor than DR0401.
      Title: Differences in self-peptide binding between T1D-related susceptible and protective DR4 subtypes.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV envelope protein gp120 can specifically inhibit CD4-dependent class II MHC-restricted T cell response to Ag 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
    Envelope surface glycoprotein gp160, precursor 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 transmembrane glycoprotein gp41 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
    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 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
    Tat 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

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:109365 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Costimulation by the CD28 family, organism-specific biosystem (from REACTOME)
      Costimulation by the CD28 family, organism-specific biosystemOptimal activation of T-lymphocytes requires at least two signals. A primary one is delivered by the T-cell receptor (TCR) complex after antigen recognition and additional costimulatory signals are d...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Downstream TCR signaling, organism-specific biosystem (from REACTOME)
      Downstream TCR signaling, organism-specific biosystemChanges in gene expression are required for the T cell to gain full proliferative competence and to produce effector cytokines. Three transcription factors in particular have been found to play a key...
    • 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...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interferon Signaling, organism-specific biosystem (from REACTOME)
      Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
    • Interferon gamma signaling, organism-specific biosystem (from REACTOME)
      Interferon gamma signaling, organism-specific biosystemInterferon-gamma (IFN-gamma) belongs to the type II interferon family and is secreted by activated immune cells-primarily T and NK cells, but also B-cells and APC. INFG exerts its effect on cells by ...
    • PD-1 signaling, organism-specific biosystem (from REACTOME)
      PD-1 signaling, organism-specific biosystemThe Programmed cell death protein 1 (PD-1) is one of the negative regulators of TCR signaling. PD-1 may exert its effects on cell differentiation and survival directly by inhibiting early activation ...
    • Phosphorylation of CD3 and TCR zeta chains, organism-specific biosystem (from REACTOME)
      Phosphorylation of CD3 and TCR zeta chains, organism-specific biosystemPrior to T cell receptor (TCR) stimulation, CD4/CD8 associated Lck remains seperated from the TCR and is maintained in an inactive state by the action of Csk. Csk phosphorylates the negative regulato...
    • TCR signaling, organism-specific biosystem (from REACTOME)
      TCR signaling, organism-specific biosystemThe TCR is a multisubunit complex that consists of clonotypic alpha/beta chains noncovalently associated with the invariant CD3 delta/epsilon/gamma and TCR zeta chains. T cell activation by antigen p...
    • Translocation of ZAP-70 to Immunological synapse, organism-specific biosystem (from REACTOME)
      Translocation of ZAP-70 to Immunological synapse, organism-specific biosystemThe dual phosphorylated ITAMs recruit Syk kinase ZAP-70 via their tandem SH2 domains (step 4). ZAP-70 subsequently undergoes phosphorylation on multiple tyrosine residues for further activation. ZAP-...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    MHC class II receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    T cell costimulation TAS
    Traceable Author Statement
    more info
    		  
    T cell receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    antigen processing and presentation of peptide or polysaccharide antigen via MHC class II IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    MHC class II protein complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    HLA class II histocompatibility antigen, DQ beta 2 chain
    Names
    HLA class II histocompatibility antigen, DQ beta 2 chain
    MHC class II antigen DQB2
    major histocompatibility complex, class II, DQ beta 1
    HLA class II histocompatibility antigen, DX beta chain
    DV19.1 (major histocompatibility complex, class II, DQ beta 2 (HLA-DXB))
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    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001198858.1 → NP_001185787.1  HLA class II histocompatibility antigen, DQ beta 2 chain precursor

      Status: REVIEWED

      Source sequence(s)
      AL672104
      Consensus CDS
      CCDS56419.1
      UniProtKB/TrEMBL
      Q5SR06
      Related
      ENSP00000390431, OTTHUMP00000178596, ENST00000411527, OTTHUMT00000276174
      Conserved Domains (2) summary
      cd05766
      Location:124 – 217
      Blast Score: 438
      IgC_MHC_II_beta; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain
      cl03042
      Location:41 – 111
      Blast Score: 348
      MHC_II_beta; Class II histocompatibility antigen, beta domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 Primary Assembly

      Range
      32723875..32731330, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.1 Reference GRCh37.p5 ALT_REF_LOCI_1

      Range
      4012153..4019609, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.2 Reference GRCh37.p5 ALT_REF_LOCI_2

      Range
      4169777..4177233, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.1 Reference GRCh37.p5 ALT_REF_LOCI_3

      Range
      4006439..4013897, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.1 Reference GRCh37.p5 ALT_REF_LOCI_4

      Range
      4181070..4188528, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.1 Reference GRCh37.p5 ALT_REF_LOCI_5

      Range
      4061058..4068516, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.1 Reference GRCh37.p5 ALT_REF_LOCI_6

      Range
      3955995..3963453, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.1 Reference GRCh37.p5 ALT_REF_LOCI_7

      Range
      4155541..4162996, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      32467367..32474826, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182549.1: Suppressed sequence

      Description
      NM_182549.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    2. NR_003937.1: Suppressed sequence

      Description
      NR_003937.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL671681.4 (1999..7170) None
    genomic AL672104.4 (20439..27895) None
    genomic AL713890.7 (33125..35409) None
    genomic AL773543.3 CAI18491.2
      CAI18493.2
      CAI18494.2
      CAI41828.2
    genomic BX296564.7 (8559..16014) None
    genomic BX927160.7 (12908..20366) None
    genomic BX927168.11 CAQ08747.1
    genomic CH471081.1 EAX03635.1
      EAX03636.1
      EAX03637.1
    genomic CR753846.4 (122121..128048) None
    genomic CR759848.2 (49526..56984) None
    genomic CR788227.4 (2000..3530) None
    genomic CR936921.7 (41550..49006) None
    genomic M24920.1 AAA52667.1
    genomic M24921.1 AAA52668.1
    genomic M24922.1 AAA52669.1
    genomic M24923.1 AAA52670.1
    genomic M83890.1 None
    genomic X87344.1 CAA60790.1
    genomic Z84490.1 CAD20258.2
    mRNA AK098007.1 BAG53563.1
    mRNA BC031995.1 None
    mRNA M95729.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    P05538.2 GenPept UniProtKB/Swiss-Prot:P05538
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    Additional Links

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials
    Miscellaneous

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      Table of contents

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