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

HLA-DQA2 Gene

protein-coding   GIFtS: 49
GCID: GC06P032709

major histocompatibility complex, class II, DQ alpha 2


(Previous symbol: HLA-DXA)
 Explore 24 diseases affiliated with
HLA-DQA2 via our new
 Human Malady Compendium 
Biological research products
for HLA-DQA2
    

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

Aliases
Major Histocompatibility Complex, Class II, DQ Alpha 21 2     MHC Class II DQA22 3
HLA-DXA1 2 3 5     DX-ALPHA2
DX Alpha Chain2 3     HLA Class II Histocompatibility Antigen, DQ Alpha 2 Chain2
HLA Class II Histocompatibility Antigen, DQ(6) Alpha Chain2 3     HLA-DQA13

External Ids:    HGNC: 49431   Entrez Gene: 31182   Ensembl: ENSG000002375417   OMIM: 6135035   UniProtKB: P019063   

Export aliases for HLA-DQA2 gene to outside databases

Previous GC identifers: GC06P032711 GC06P032479 GC06P032756 GC06P032817


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

Entrez Gene summary for HLA-DQA2:
This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta
chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II
molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in
antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on
the cell surface to be recognized by CD4 T-cells. (provided by RefSeq, Jun 2010)

UniProtKB/Swiss-Prot: DQA2_HUMAN, P01906
Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and
presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides
of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins
that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous
antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and
for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their
way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal
compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a
source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition
to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74
and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an
antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the
ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen
processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a
small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM
via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules
until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported
to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by
HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in the
regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
efficient peptide loading

Gene Wiki entry for HLA-DQA2


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HLA-DQA2 gene promoter:
         c-Fos   GR   USF1   AP-1   Pbx1a   HTF   USF-1   Zic1   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHLA-DQA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for HLA-DQA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HLA-DQA2


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

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

HLA-DQA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HLA-DQA2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P032709:  view genomic region     (about GC identifiers)

Start:
32,709,119 bp from pter      End:
32,714,992 bp from pter
Size:
5,874 bases      Orientation:
plus strand

6/7 alternative locations (see all 7):
Chr6+,ALT_REF_LOCI_5 32,657,768-32,663,270      Chr6+,ALT_REF_LOCI_6 32,637,805-32,678,942      Chr6+,ALT_REF_LOCI_4 32,785,980-32,791,492     
Chr6+,ALT_REF_LOCI_3 32,688,301-32,704,870      Chr6+,ALT_REF_LOCI_2 32,632,816-32,677,550      Chr6+,ALT_REF_LOCI_1 32,694,039-32,707,845     

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

UniProtKB/Swiss-Prot: DQA2_HUMAN, P01906 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DQ alpha 2 chain precursor  
Size: 255 amino acids; 28033 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariant
chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoes
sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHC
class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding of
antigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass
type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosome
membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=The MHC
class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the
cell membrane for antigen presentation
Caution: There is some controversy on whether this gene is really expressed or not
Secondary accessions: A2BF37 B0V0E7 O19789 Q5SQ94 Q5SR04

Explore the universe of human proteins at neXtProt for HLA-DQA2: NX_P01906

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P01906

  • HLA-DQA2 Protein expression data from MOPED and PaxDb:    About this image 
    HLA-DQA2 Protein Expression
    REFSEQ proteins: NP_064440.1  
    ENSEMBL proteins: 
     ENSP00000364076  
    Reactome Protein details: P01906
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

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

    HLA-DQA2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HLA-DQA2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR001003 MHC_II_a_N
     IPR011162 MHC_I/II-like_Ag-recog
     IPR013783 Ig-like_fold
     IPR014745 MHC_II_a/b_N
     IPR003597 Ig_C1-set

    Graphical View of Domain Structure for InterPro Entry P01906

    ProtoNet protein and cluster: P01906

    2 Blocks protein families:
    IPB001003 MHC Class II alpha chain
    IPB003597 Immunoglobulin C-type


    UniProtKB/Swiss-Prot: DQA2_HUMAN, P01906
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DQA2_HUMAN, P01906
    Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and
    presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides
    of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins
    that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous
    antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and
    for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their
    way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal
    compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a
    source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition
    to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74
    and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an
    antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the
    ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen
    processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a
    small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM
    via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules
    until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported
    to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by
    HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in the
    regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
    efficient peptide loading

         Genatlas biochemistry entry for HLA-DQA2:
    HLA-DQ,alpha chain-related,not known to be expressed

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032395MHC class II receptor activity NAS3036828
         
    HLA-DQA2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HLA-DQA2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DQA2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/28 super-pathways (see all 28About this table 
    See pathways by source

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

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/12 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HLA-DQA2 (see all 12)
        THC Differentiation Pathway
    Calcium Mediated T-Cell Apoptosis
    IL-4 Pathway
    ICos-ICosL Pathway in T-Helper Cell
    CDC42 Pathway

    5/6 GeneGo (Thomson Reuters) Pathways for HLA-DQA2 (see all 6)
        Immune response Antigen presentation by MHC class II
    Immune response ICOS pathway in T-helper cell
    Immune response T cell receptor signaling pathway
    Immune response IL-22 signaling pathway
    G-protein signaling N-RAS regulation pathway

    5/20        Reactome Pathways for HLA-DQA2 (see all 20)
        Internalization of MHC II:Ii clathrin coated vesicle
    Costimulation by the CD28 family
    Transport of MHC II:Ii complex along Golgi to TGN
    Transport of MHC II:Ii complex to plasma membrane
    Transport of antigen loaded MHC II molecules to surface


    5/17         Kegg Pathways  (Kegg details for HLA-DQA2) (see all 17):
        Phagosome
    Cell adhesion molecules (CAMs)
    Antigen processing and presentation
    Intestinal immune network for IgA production
    Type I diabetes mellitus


    HLA-DQA2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HLA-DQA2

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

    5/44 Interacting proteins for HLA-DQA2 (P019063 ENSP000003640764) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000231286P019203, ENSP000003820184I2D: score=1 STRING: ENSP00000382018
    HLA-DQB1P019203, ENSP000003820344I2D: score=1 STRING: ENSP00000382034
    ENSG00000225824P019203I2D: score=1 
    ENSG00000233209P019203I2D: score=1 
    CD4P017303, ENSP000000116534I2D: score=2 STRING: ENSP00000011653
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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 NAS3036828
    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-DQA2 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for HLA-DQA2

    1 DrugBank Compound for HLA-DQA2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Insulin, porcine-- 9004-14-2target--9458118 11006709 17016423 8200980 17139284

    Search CenterWatch for drugs/clinical trials and news about HLA-DQA2 / DQA2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for HLA-DQA2 gene: 
    NM_020056.4  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000374940(uc003obx.3)

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    24/548 AceView cDNA sequences (see all 548):

    CA309331 AF533930 BV176870 BV177914 AU076978 BM694667 L46875 L34083 
    BU680454 CA306036 BG756170 AW388115 BV177094 BU617246 BV177637 NM_002122 
    BV177276 AW388120 BV177061 BV176869 CK820437 AW388107 BV177713 CD369275 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HLA-DQA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    HLA-DQA2 Expression
    About this image
    See HLA-DQA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HLA-DQA2

    UniProtKB/Swiss-Prot: DQA2_HUMAN, P01906
    Tissue specificity: Expressed at low levels at the surface of B lymphoblastoid cells

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DQA2

    (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

    This gene was present in the common ancestor of chordates.

    Orthologs for HLA-DQA2 gene from 2/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    49(a)
    46(a)
    many ↔ many
    many ↔ many
    GL343775.1(36865-38243)
    GL343809.1(2435-3996)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkeyp-2h4.26
    si:ch1073-403i13.16
    (see all 10)
    si:ch1073-403i13.1
    (see all 10)
    30(a)
    29(a)
    (see all 10)
    many ↔ many
    many ↔ many
    (see all 10)
    8(37539907-37543263)
    8(37574076-37576393)


    ENSEMBL Gene Tree for HLA-DQA2 (if available)
    TreeFam Gene Tree for HLA-DQA2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HLA-DQA2 gene
    HLA-DRB52  HLA-DQA12  HLA-DPA12  HLA-DQB12  HLA-DRA2  HLA-DOB2  HLA-DRB12  HLA-DMA2  
    HLA-DQB22  ENSG000002489932  HLA-DOA2  HLA-DMB2  HLA-DPB12  
    18/35 SIMAP similar genes for HLA-DQA2 using alignment to 5 protein entries:     DQA2_HUMAN (see all proteins) (see all similar genes):
    HLA-DQA1    HLA-DQA1/DRA    DQA1-0103    DQ-A1    HLA-DPA1    HLA-DRA1
    HLA-DOA    HLA-DRA    HLA-DMA    HLA-DQB1*06x    HLA-DPB1    HLA-DQB2
    HLA-DP    HLA-DRB5    HLA-DRB3    HLA-DQB1    HLA-DRB1    B2M

    HLA-DQA2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/388 NCBI SNPs in HLA-DQA2 are shown (see all 388    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs92763681,2
    C,F--32707168(+) ACAAAA/TTATCT 1 -- us2k16Minor allele frequency- T:0.13WA NA CSA EA 364
    rs92763691,2
    C,F--32707173(+) ATATCT/GTCACA 1 -- us2k16Minor allele frequency- G:0.12WA NA CSA EA 364
    rs28942871,2
    C,F,A,H--32707282(+) AGGTAA/GTTTTG 1 -- us2k113Minor allele frequency- G:0.45NS EA NA CSA WA 793
    rs92763701,2
    C,F,H--32707295(+) gaggaT/Gttaag 1 -- us2k123Minor allele frequency- G:0.42NS EA NA WA CSA 2356
    rs715361521,2
    C--32707352(+) GGGGAT/-TGGCA 1 -- us2k11Minor allele frequency- -:0.50NA 2
    rs92822621,2
    C--32707353(+) GGGAT-/TGGCAA 1 -- us2k10--------
    rs23952491,2
    C,F,H--32707360(+) gcaatG/Actatg 1 -- us2k19Minor allele frequency- A:0.10NS EA NA CSA WA 774
    rs1171601991,2
    F--32707371(+) ATTGGG/ATAGCT 1 -- us2k11Minor allele frequency- A:0.05EA 120
    rs284213011,2
    C--32707387(+) AATACT/CACCTA 1 -- us2k13Minor allele frequency- C:0.14WA EA 240
    rs283713511,2
    C--32707395(+) CTAGAA/GGGACG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HLA-DQA2 (32709119 - 32714992 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for HLA-DQA2
         7 CNVs: 7570 69417 62501 69435 69424 64476 69419
    Locus Specific Mutation Databases (LSDB): HLA-DQA2

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HLA-DQA2 for disorders           About GeneDecksing

    OMIM gene information: 613503    OMIM disorders: --

    20/24 diseases for HLA-DQA2 (see all 24):    About MalaCards
    graft versus host disease    childhood type dermatomyositis    alopecia areata    systemic lupus erythematosus
    lupus erythematosus    rheumatoid arthritis    alopecia    autoimmune thyroiditis
    diabetes mellitus    celiac disease    dermatomyositis    toxoplasmosis
    leishmaniasis    hepatitis b    arthritis    narcolepsy
    osteoarthritis    influenza    thyroiditis    asthma

    2 diseases from the University of Copenhagen DISEASES database for HLA-DQA2:
    Celiac disease     Diabetes mellitus
    Human Genome Epidemiology (HuGE) Navigator: HLA-DQA2 (10 documents)

    Export disorders for HLA-DQA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HLA-DQA2 gene, integrated from 9 sources (see all 90):
    (articles sorted by number of sources associating them with HLA-DQA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The nonpolymorphic MHC class II isotype, HLA-DQA2, is expressed on the surface of B lymphoblastoid cells. (PubMed id 9036956)1, 2 Rudy G.B. and Lew A.M. (1997)
    2. Limited polymorphism of the HLA-DQA2 promoter and identification of a variant octamer. (PubMed id 8026991)1, 2 Rudy G. and Lew A.M. (1994)
    3. Ancient roots for polymorphism at the HLA-DQ alpha locus in primates. (PubMed id 2513578)1, 2 Gyllensten U.B. and Erlich H.A. (1989)
    4. Structure and expression of HLA-DQ alpha and -DX alpha genes: interallelic alternate splicing of the HLA-DQ alpha gene and functional splicing of the HLA-DQ alpha gene using a retroviral vector. (PubMed id 3610256)1, 2 Auffray C.... Strominger J.L. (1987)
    5. Class II genes of the human major histocompatibility complex. Comparisons of the DQ and DX alpha and beta genes. (PubMed id 3036828)1, 2 Jonsson A.-K.... Rask L. (1987)
    6. Isotypic and allotypic variation of human class II histocompatibility antigen alpha-chain genes. (PubMed id 6584734)1, 2 Auffray C....Strominger J.L. (1984)
    7. Novel associations for hypothyroidism include known au toimmune risk loci. (PubMed id 22493691)1 Eriksson N....Do C.B. (2012)
    8. HIV-1 Gag-virus-like particles induce natural killer c ell immune responses via activation and maturation of dendritic cells. (PubMed id 21778700)1 Chang M.O....Takaku H. (2012)
    9. 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 Lenormand C....Tourne S. (2012)
    10. Stratifying type 2 diabetes cases by BMI identifies ge netic risk variants in LAMA1 and enrichment for risk variants in lean compared t o obese cases. (PubMed id 22693455)1 Perry J.R....Cauchi S. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3118 HGNC: 4943 AceView: HLA-DQA1andHLA-DQA2 Ensembl:ENSG00000237541 euGenes: HUgn3118
    ECgene: HLA-DQA2 Kegg: 3118 H-InvDB: HLA-DQA2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HLA-DQA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HLA-DQA2 gene:
    Search GeneIP for patents involving HLA-DQA2

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



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