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HLA-DQA2 Gene

protein-coding   GIFtS: 51
GCID: GC06P032709

Major Histocompatibility Complex, Class II, DQ Alpha 2


(Previous symbol: HLA-DXA)
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(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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HLA-DQA2 Gene:
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)

GeneCards Summary for HLA-DQA2 Gene:
HLA-DQA2 (major histocompatibility complex, class II, DQ alpha 2) is a protein-coding gene. GO annotations related to this gene include MHC class II receptor activity. An important paralog of this gene is HLA-DRB5.

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 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-DQA2 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-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 Chromatin IP Primers for HLA-DQA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

Selected alternative locations (see all 7):
Chr6+,NT_167245 3,991,726-3,997,229      Chr6+,NT_167249 4,140,831-4,146,332      Chr6+,NT_167246 4,166,321-4,171,833     
Chr6+,NT_167248 3,941,246-3,946,758      Chr6+,NT_167247 4,046,345-4,051,847      Chr6+,NT_113891.2 4,155,064-4,160,566     

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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. Dimer formation with
HLA-DQB2, but not with HLA-DQB1, 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
Secondary accessions: A2BF37 B0V0E7 O19789 Q5SQ94 Q5SR04

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

Explore proteomics data for HLA-DQA2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn104, Asn144

  • See HLA-DQA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064440.1  
    ENSEMBL proteins: 
     ENSP00000364076  
    Reactome Protein details: P01906

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    (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):
     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 domains:
    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


    Find genes that share domains with HLA-DQA2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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 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-DQA2:
    HLA-DQ,alpha 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 NAS3036828
         
    Find genes that share ontologies with HLA-DQA2           About GenesLikeMe


    Animal Models:
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    (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
    DQA2_HUMAN, P01906: 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
    extracellular1

    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:0005887integral component of plasma membrane NAS3036828
    GO:0010008endosome membrane IEA--

    Find genes that share ontologies with HLA-DQA2           About GenesLikeMe


    (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-DQA2 About   (see all 22)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Allograft rejection
    Allograft rejection0.86
    Intestinal immune network for IgA production0.41
    Allograft Rejection0.86
    Viral myocarditis0.40
    Type I diabetes mellitus0.69
    CTL Mediated Apoptosis0.38
    Graft-versus-host disease0.65
    THC Differentiation Pathway0.38
    2CD28 co-stimulation
    Costimulation by the CD28 family0.44
    CTLA4 Signaling0.30
    3Translocation 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
    4ICos-ICosL Pathway in T-Helper Cell
    ICos-ICosL Pathway in T-Helper Cell0.66
    Calcium Mediated T-Cell Apoptosis0.31
    CD28 Signaling in T-Helper Cell0.66
    5Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59


    Find genes that share SuperPaths with HLA-DQA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected 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

    1 BioSystems Pathway for HLA-DQA2
        Allograft Rejection

    Selected Reactome Pathways for HLA-DQA2 (see all 7)
        Translocation of ZAP-70 to Immunological synapse
    Interferon gamma signaling
    Downstream TCR signaling
    PD-1 signaling
    MHC class II antigen presentation


    Selected Kegg Pathways  (Kegg details for HLA-DQA2) (see all 21):
        Phagosome
    Cell adhesion molecules (CAMs)
    Antigen processing and presentation
    Intestinal immune network for IgA production
    Type I diabetes mellitus

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HLA-DQA2
    Interactions:

        Search GeneGlobe Interaction Network for HLA-DQA2

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

    Selected Interacting proteins for HLA-DQA2 (P019063 ENSP000003640764) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    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): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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--
    GO:0031295T cell costimulation TAS--

    Find genes that share ontologies with HLA-DQA2           About GenesLikeMe



    (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-DQA2 (DQA2)

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



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected AceView cDNA sequences (see all 548):

    BV176869 BG756170 CA309331 BV176870 BU680454 AW388115 BV177713 AW388120 
    BU617246 CA306036 L34083 L46875 BV177637 BM694667 AF533930 CK820437 
    BV177061 NM_002122 BV177914 BV177094 BV177276 AW388107 AU076978 BV203496 

    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-DQA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HLA-DQA2 Expression
    About this image

    HLA-DQA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HLA-DQA2 Protein Expression

    UniProtKB/Swiss-Prot: DQA2_HUMAN, P01906
    Tissue specificity: Restricted to skin Langerhans cells, although some expression at low levels may occur at the
    surface of B lymphoblastoid cells

        Custom PCR Arrays for HLA-DQA2
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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

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    This gene was present in the common ancestor of chordates.

    Orthologs for HLA-DQA2 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    48(a)
    47(a)
    many ↔ many
    many ↔ many
    GL343775.1(20845-38928)
    GL343809.1(2435-3996)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004954921 HLA class II histocompatibility antigen, DR alpha chain-like 58.39(n)
    48.91(a)
      100495492  XM_002942015.2  XP_002942061.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch1073-403i13.16
    si:zfos-367g9.16
    (see all 5)
    si:zfos-367g9.1
    (see all 5)
    31(a)
    27(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    8(37574076-37576393) ENSDARG00000001832
    8(37465644-37474349) ENSDARG00000074816
            Species with no ortholog for HLA-DQA2

    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)
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    Paralogs for HLA-DQA2 gene
    HLA-DRB52  HLA-DQA12  HLA-DPA12  HLA-DQB12  HLA-DRA2  HLA-DRB12  HLA-DOB2  HLA-DMA2  
    HLA-DQB22  HLA-DOA2  ENSG000002489932  HLA-DMB2  HLA-DPB12  
    Selected SIMAP similar genes for HLA-DQA2 using alignment to 3 protein entries:     DQA2_HUMAN (see all proteins) (see all similar genes):
    HLA-DQA1    DQA1-0103    DQ-A1    HLA-DQA1/DRA    HLA-DPA1    HLA-DRA1
    HLA-DRA    HLA-DOA    HLA-DMA    HLA-DQB1*06x    HLA-DPB1    HLA-DP
    HLA-DRB5    HLA-DRB3    HLA-DQB1    B2M    HLA-DPB    HLA-DQB2

    Find genes that share paralogs with HLA-DQA2           About GenesLikeMe



    (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-DQA2 (see all 383)    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
    rs23952491,2
    C,F,H--32707360(+) gcaatG/Actatg 1 -- us2k19Minor allele frequency- A:0.10NS EA NA CSA WA 774
    rs1171601991,2
    C,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--------
    rs1153553811,2
    C,F--32707400(+) GGGACG/AGAAGA 1 -- us2k11Minor allele frequency- A:0.09WA 118

    HapMap Linkage Disequilibrium report for HLA-DQA2 (32709119 - 32714992 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for HLA-DQA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670072CNV Deletion23128226
    dgv1113e199CNV Deletion23128226
    dgv1046e201CNV Deletion23290073
    esv32761CNV Loss17666407
    nsv830632CNV Loss17160897
    esv6650CNV Loss19470904
    nsv885706CNV Gain21882294
    nsv428142CNV Gain+Loss18775914
    esv21985CNV Gain+Loss19812545
    nsv511120CNV Complex20534489

    Locus Specific Mutation Databases (LSDB): HLA-DQA2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HLA-DQA2
    DNA2.0 Custom Variant and Variant Library Synthesis for HLA-DQA2

    (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.)
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    OMIM gene information: 613503    OMIM disorders: --

    2 diseases from the University of Copenhagen DISEASES database for HLA-DQA2:
    Celiac disease     Diabetes mellitus

    Find genes that share disorders with HLA-DQA2           About GenesLikeMe

    Genetic Association Database (GAD): HLA-DQA2
    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)
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    PubMed articles for HLA-DQA2 gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with HLA-DQA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study. (PubMed id 20305777)1, 4 Nakajima M....Ikegawa S. (PLoS ONE 2010)
    3. Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. (PubMed id 20711174)1, 4 Hor H....Tafti M. (Nat. Genet. 2010)
    4. 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)
    5. Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions. (PubMed id 20159242)1, 4 Li X....Bleecker E.R. (J. Allergy Clin. Immunol. 2010)
    6. Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci. (PubMed id 19116923)1, 4 Vignal C....Wilson A.G. (Arthritis Rheum. 2009)
    7. 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)
    8. The MHC type 1 diabetes susceptibility gene is centromeric to HLA-DQB1. (PubMed id 18065200)1, 4 Husain Z....Alper C.A. (J. Autoimmun. 2008)
    9. Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility. (PubMed id 18668548)1, 4 JuliA A....Marsal S. (Arthritis Rheum. 2008)
    10. 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. (J. Immunol. 1997)

    (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: 3118 HGNC: 4943 AceView: HLA-DQA1andHLA-DQA2 Ensembl:ENSG00000237541 euGenes: HUgn3118
    ECgene: HLA-DQA2 Kegg: 3118 H-InvDB: HLA-DQA2

    (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-DQA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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