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HLA-DQB2 Gene

protein-coding   GIFtS: 50
GCID: GC06M032728

Major Histocompatibility Complex, Class II, DQ Beta 2


(Previous symbol: HLA-DXB)
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)
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Aliases
Major Histocompatibility Complex, Class II, DQ Beta 21 2     HLA-DQB12
HLA-DXB1 2 3 5     DV19.1 (Major Histocompatibility Complex, Class II, DQ Beta 2 (HLA-DXB))2
HLA Class II Histocompatibility Antigen, DX Beta Chain2 3     HLA Class II Histocompatibility Antigen, DQ Beta 2 Chain2
MHC Class II Antigen DQB22 3     Major Histocompatibility Complex, Class II, DQ Beta 12

External Ids:    HGNC: 49451   Entrez Gene: 31202   Ensembl: ENSG000002326297   OMIM: 6151615   UniProtKB: P055383   

Export aliases for HLA-DQB2 gene to outside databases

Previous GC identifers: GC06U990047 GC06M032721 GC06M032676 GC06M032077 GC06M032831 GC06M032725


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HLA-DQB2 Gene:
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)

GeneCards Summary for HLA-DQB2 Gene:
HLA-DQB2 (major histocompatibility complex, class II, DQ beta 2) is a protein-coding gene. Diseases associated with HLA-DQB2 include chronic interstitial cystitis, and spermatic cord torsion. GO annotations related to this gene include MHC class II receptor activity. An important paralog of this gene is HLA-DRB5.

UniProtKB/Swiss-Prot: DQB2_HUMAN, P05538
Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC)
and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates
peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation
of proteins that access the endocytic route, where they are processed by lysosomal proteases and other
hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous.
As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from
endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with
MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as
epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI
tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of
an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential
degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP
(class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the
regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
efficient peptide loading

Gene Wiki entry for HLA-DQB2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the HLA-DQB2 gene promoter:
         HOXA9   HOXA9B   AML1a   HTF   HNF-4alpha2   Meis-1b   HNF-4alpha1   Meis-1a   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for HLA-DQB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HLA-DQB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

HLA-DQB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HLA-DQB2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032728:  view genomic region     (about GC identifiers)

Start:
32,723,875 bp from pter      End:
32,731,330 bp from pter
Size:
7,456 bases      Orientation:
minus strand

Selected alternative locations (see all 7):
Chr6-,NT_167249 4,155,541-4,162,996      Chr6-,NT_167245 4,006,439-4,013,897      Chr6-,NT_167247 4,061,058-4,068,516     
Chr6-,NT_167248 3,955,995-3,963,453      Chr6-,NT_113891.2 4,169,777-4,177,233      Chr6-,NT_167246 4,181,070-4,188,528     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DQB2_HUMAN, P05538 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DQ beta 2 chain precursor  
Size: 268 amino acids; 30387 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. Dimer formation with
HLA-DQA2, but not with HLA-DQA1, is required for efficient exit from the endoplasmic reticulum (ER). In the ER,
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. Association with HLA-DMA also occurs in skin Langerhans cells, in post-Golgi compartments
Sequence caution: Sequence=CAA60790.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A6NIA5 Q29826 Q29870 Q29871 Q29872 Q29873 Q5SR06
Alternative splicing: 2 isoforms:  P05538-1   P05538-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HLA-DQB2: NX_P05538

Explore proteomics data for HLA-DQB2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn51
  • Modification sites at PhosphoSitePlus

  • See HLA-DQB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001185787.1  
    ENSEMBL proteins: 
     ENSP00000390431   ENSP00000410512   ENSP00000396330   ENSP00000415997  
    Reactome Protein details: P05538

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    Browse CLIAs at Cloud-Clone Corp.


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

    Selected InterPro protein domains (see all 7):
     IPR011162 MHC_I/II-like_Ag-recog
     IPR000353 MHC_II_b_N
     IPR013783 Ig-like_fold
     IPR014745 MHC_II_a/b_N
     IPR003597 Ig_C1-set

    Graphical View of Domain Structure for InterPro Entry P05538

    ProtoNet protein and cluster: P05538

    3 Blocks protein domains:
    IPB000353 Class II histocompatibility antigen
    IPB001003 MHC Class II alpha chain
    IPB003597 Immunoglobulin C-type


    UniProtKB/Swiss-Prot: DQB2_HUMAN, P05538
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    HLA-DQB2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DQB2_HUMAN, P05538
    Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC)
    and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates
    peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation
    of proteins that access the endocytic route, where they are processed by lysosomal proteases and other
    hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
    via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous.
    As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
    contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from
    endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with
    MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as
    epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI
    tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of
    an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
    of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential
    degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP
    (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
    the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
    affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
    membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
    Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the
    regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
    efficient peptide loading

         Genatlas biochemistry entry for HLA-DQB2:
    HLA-DQ,beta chain-related,not known to be expressed

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0032395MHC class II receptor activity NAS2564844
         
    HLA-DQB2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for HLA-DQB2:
     Decreased cell number and incr  Increased G1 DNA content  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HLA-DQB2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HLA-DQB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HLA-DQB2

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    miRTarBase miRNAs that target HLA-DQB2:
    hsa-mir-26b-5p (MIRT030178)

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    4 qRT-PCR Assays for microRNAs that regulate HLA-DQB2:
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DQB2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DQB2_HUMAN, P05538: 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. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic
    pathway until it reaches the cell membrane for antigen presentation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    endosome5
    lysosome5
    plasma membrane5
    vacuole5
    golgi apparatus4
    extracellular3
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005765lysosomal membrane TAS--
    GO:0005886plasma membrane TAS--
    GO:0010008endosome membrane IEA--
    GO:0012507ER to Golgi transport vesicle membrane TAS--

    HLA-DQB2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HLA-DQB2 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Translocation of ZAP-70 to Immunological synapse
    Translocation of ZAP-70 to Immunological synapse0.83
    PD-1 signaling0.72
    Phosphorylation of CD3 and TCR zeta chains0.83
    Generation of second messenger molecules0.62
    2Immune response Antigen presentation by MHC class II
    Immune response Antigen presentation by MHC class II0.46
    Immune response IL 22 signaling pathway0.31
    G protein signaling N RAS regulation pathway0.46
    3Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59
    4Immune response NFAT in immune response
    Immune response NFAT in immune response0.55
    Immune response T cell receptor signaling pathway0.50
    Immune response ICOS pathway in T helper cell0.55
    5TCR signaling (REACTOME)
    Downstream TCR signaling0.73
    TCR signaling0.73

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HLA-DQB2 (see all 12)
        THC Differentiation Pathway
    Calcium Mediated T-Cell Apoptosis
    IL-4 Pathway
    ICos-ICosL Pathway in T-Helper Cell
    CDC42 Pathway

    Selected GeneGo (Thomson Reuters) Pathways for HLA-DQB2 (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

    Selected Reactome Pathways for HLA-DQB2 (see all 7)
        Translocation of ZAP-70 to Immunological synapse
    Interferon gamma signaling
    Downstream TCR signaling
    PD-1 signaling
    MHC class II antigen presentation



    HLA-DQB2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HLA-DQB2
    Interactions:

        GeneGlobe Interaction Network for HLA-DQB2

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002504antigen processing and presentation of peptide or polysaccharide antigen via MHC class II ----
    GO:0006955immune response NAS2564844
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0019882antigen processing and presentation ----
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--

    HLA-DQB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HLA-DQB2 (DQB2)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for HLA-DQB2 gene (2 alternative transcripts): 
    NM_001198858.1  NM_182549.1  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000411527 ENST00000435145(uc003obz.2) ENST00000437316(uc003oby.4)
    ENST00000427449
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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      QuantiTect SYBR Green Assays in human, mouse, rat HLA-DQB2
      QuantiFast Probe-based Assays in human, mouse, rat HLA-DQB2

    18 AceView cDNA sequences:

    AK098007 BX092875 BC031995 NM_182549 BG545654 CD694814 BG675599 M95729 
    BG680248 CA309454 BI833727 BG538183 T96621 CD709138 BE046094 CD687717 
    CD684765 T96731 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HLA-DQB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAAACAAAA
    HLA-DQB2 Expression
    About this image

    HLA-DQB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HLA-DQB2 Protein Expression

    UniProtKB/Swiss-Prot: DQB2_HUMAN, P05538
    Tissue specificity: Restricted to skin Langerhans cells (at protein level)

        Custom PCR Arrays for HLA-DQB2
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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      --

    ENSEMBL Gene Tree for HLA-DQB2 (if available)
    TreeFam Gene Tree for HLA-DQB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HLA-DQB2 gene
    HLA-DRB52  HLA-DQA12  HLA-DPA12  HLA-DQB12  HLA-DRA2  HLA-DRB12  HLA-DOB2  HLA-DMA2  
    HLA-DOA2  ENSG000002489932  HLA-DMB2  HLA-DQA22  HLA-DPB12  
    Selected SIMAP similar genes for HLA-DQB2 using alignment to 6 protein entries:     DQB2_HUMAN (see all proteins) (see all similar genes):
    HLQ-DQB1    HLA-DQ-beta    HLA-DQB    HLA-DQ3    HLA-DQB1*06x    HLA DQB1
    HLA DRB4    HLA-DQ    HLA-Dw12    HLA-DRB4*0102    HLA-DQB1    HLA-DQB3
    HLA-DQB1/DRB1    HLA-DRB13    MHC Class II HLA DRB1    DQB1-02    HLA-DRB2    HLA-D8.2V

    HLA-DQB2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HLA-DQB2 (see all 420)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs77700451,2
    C,F,A--32723379(+) CTCATT/GGAATA 1 -- ds500110Minor allele frequency- G:0.48NA WA CSA EA 372
    rs1813338291,2
    --32723382(+) ATTGAA/GTATCT 1 -- ds50010--------
    rs1441338341,2
    C--32723456(+) GTCTAA/TCATTT 1 -- ds50010--------
    rs1119752201,2
    C--32723465(+) TTGGAG/ACCAAA 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs77699591,2
    C,F,A--32723486(+) TCATTC/GCTGGT 1 -- ds500112Minor allele frequency- G:0.48NA WA CSA EA 512
    rs94618071,2
    C,F--32723506(+) TTAAAA/GATAAA 1 -- ds50013Minor allele frequency- G:0.09WA NA EA 358
    rs2000196451,2
    C--32723517(+) AATTAG/TTCTTG 1 -- ds50010--------
    rs77699741,2
    C,F,A,H--32723518(+) ATTAGC/TCTTGA 1 -- ds500119Minor allele frequency- T:0.50NA NS EA CSA WA 1346
    rs1135023111,2
    C--32723563(+) CATCAG/CTCACT 1 -- ds50011Minor allele frequency- C:0.50WA 2
    rs77699791,2
    C,F,A,H--32723572(+) CTATAA/GTTGTC 1 -- ds500124Minor allele frequency- G:0.43NS EA NA WA 2936

    HapMap Linkage Disequilibrium report for HLA-DQB2 (32723875 - 32731330 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for HLA-DQB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670072CNV Deletion23128226
    dgv1113e199CNV Deletion23128226
    dgv1046e201CNV Deletion23290073
    nsv830632CNV Loss17160897
    esv6650CNV Loss19470904
    nsv885706CNV Gain21882294
    nsv428142CNV Gain+Loss18775914
    esv21985CNV Gain+Loss19812545
    nsv511120CNV Complex20534489

    Locus Specific Mutation Databases (LSDB): HLA-DQB2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HLA-DQB2
    DNA2.0 Custom Variant and Variant Library Synthesis for HLA-DQB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615161    OMIM disorders: --

    15 diseases for HLA-DQB2:    About MalaCards
    chronic interstitial cystitis    spermatic cord torsion    cystitis    coronary artery aneurysm
    kawasaki disease    hiv-1    kaposi's sarcoma    systemic lupus erythematosus
    lupus erythematosus    hepatitis b    sarcoma    rheumatoid arthritis
    arthritis    multiple sclerosis    hepatitis


    HLA-DQB2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HLA-DQB2
    Human Genome Epidemiology (HuGE) Navigator: HLA-DQB2 (7 documents)

    Export disorders for HLA-DQB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HLA-DQB2 gene, integrated from 10 sources (see all 72):
    (articles sorted by number of sources associating them with HLA-DQB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Remarkable sequence conservation of the HLA-DQB2 locus (DX beta) within the highly polymorphic DQ subregion of the human MHC. (PubMed id 2564844)1, 2, 3 Berdoz J.... Gorski J. (Immunogenetics 1989)
    2. HLA-DQA2 and HLA-DQB2 genes are specifically expressed in human Langerhans cells and encode a new HLA class II molecule. (PubMed id 22407913)1, 2 Lenormand C.... Tourne S. (J. Immunol. 2012)
    3. A genome-wide association study identifies three new risk loci for Kawasaki disease. (PubMed id 22446962)1, 4 Onouchi Y.... . (Nat. Genet. 2012)
    4. A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population. (PubMed id 21750111)1, 4 Mbarek H....Matsuda K. (Hum. Mol. Genet. 2011)
    5. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. (PubMed id 21408207)1, 4 Chung S.A....Criswell L.A. (PLoS Genet. 2011)
    6. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1, 4 Ucisik-Akkaya E....Dorak M.T. (Mol. Hum. Reprod. 2010)
    7. HLA-E gene polymorphism associated with susceptibility to Kawasaki disease and formation of coronary artery aneurysms. (PubMed id 19180512)1, 4 Lin Y.J....Tsai F.J. (Arthritis Rheum. 2009)
    8. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    9. Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences. (PubMed id 14730600)1, 4 Kochi Y....Yamamoto K. (Arthritis Rheum. 2004)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3120 HGNC: 4945 AceView: HLA-DQB2 Ensembl:ENSG00000232629 euGenes: HUgn3120
    ECgene: HLA-DQB2 H-InvDB: HLA-DQB2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HLA-DQB2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HLA-DQB2 gene:
    Search GeneIP for patents involving HLA-DQB2

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



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