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HLA-DQA2 Gene

protein-coding   GIFtS: 40

GC06P032479
major histocompatibility complex, class II, DQ alpha 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: HLA-DXA)
Products    

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

Aliases & Descriptions
major histocompatibility complex, class II, DQ alpha 21 2     HLA class II histocompatibility antigen, DQ(6) alpha chain2 3
HLA-DXA2 3 5     DX alpha chain2 3
HLA-DQA12 3     HLA class II histocompatibility antigen, DQ alpha 2 chain2
MHC class II DQA22 3     DX-ALPHA2

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

Export aliases for HLA-DQA2 gene to outside databases

Previous GC identifers: GC06P032711 GC06P032756 GC06P032817 GC06P032709


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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 accomodates 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 an 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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HLA-DQA2 gene promoter:
         GR-alpha   GR-beta   PPAR-gamma1   PPAR-gamma2   NRSF form 1   NRSF form 2   E47   RREB-1   Pax-2   SREBP-1a   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for HLA-DQA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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 gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P032479:  view genomic region     (about GC identifiers)

Start:
32,452,649 bp from pter
End:
32,458,152 bp from pter
Size:
5,504 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 32,673,430-32,678,942      Chr6+,ALT_REF_LOCI_7 32,730,296-32,735,797     
Chr6+,ALT_REF_LOCI_1 32,694,039-32,707,845      Chr6+,ALT_REF_LOCI_2 32,632,816-32,677,550      Chr6+,ALT_REF_LOCI_4 32,785,980-32,791,492     

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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 an 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 

REFSEQ proteins: NP_064440.1  

ENSEMBL proteins: 
ENSP00000388256 ENSP00000364076 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate: HLA-DQA2
GenScript Custom Purified and Recombinant Proteins Services for HLA-DQA2 
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins

5/10 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 10):

GO IDQualified GO termEvidencePubMed IDs
GO:0005765 lysosomal membrane IEA--
GO:0005768 endosome IEA--
GO:0005783 endoplasmic reticulum IEA--
GO:0005789 endoplasmic reticulum membrane IEA--
GO:0005794 Golgi apparatus IEA--
About this table

HLA-DQA2 for ontologies           About GeneDecksing



Antibodies for HLA-DQA2: 
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for HLA-DQA2
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
GenScript Custom Superior Antibodies Services for HLA-DQA2 
Browse antibodies at Epitomics

Assays for HLA-DQA2: 
Browse Kits and Assays available from Millipore
Browse ELISAs at Sigma-Aldrich
OriGene Custom Immunoassay Development 
Browse OriGene Fluorogenic Cell Assay Kits 
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for HLA-DQA2 
Browse Enzo Life Sciences for kits & assays
Browse ELISAs and CLIAs at Uscn 


(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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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 accomodates 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 an 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

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA for HLA-DQA2
Sigma-Aldrich shRNA for HLA-DQA2
OriGene 29mer shRNA kits in GFP-retroviral vector: HLA-DQA2
OriGene shRNA RFP: HLA-DQA2
OriGene basic RS shRNA: HLA-DQA2
OriGene siRNA: HLA-DQA2
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HLA-DQA2 
miRNA:Sigma-Aldrich microRNA Mimics for HLA-DQA2
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HLA-DQA2 
Search SABiosciences for Assays for microRNAs that regulate HLA-DQA2

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: HLA-DQA2
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HLA-DQA2
OriGene untagged cDNA clones in CMV expression vector: HLA-DQA2
OriGene 3'-UTR clone: HLA-DQA2 
Browse MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for HLA-DQA2 
Browse Sino Biological Human cDNA Clones

Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for HLA-DQA2 

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

2 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005515 protein binding IEA--
GO:0032395 MHC class II receptor activity NAS3036828
About this table

HLA-DQA2 for ontologies           About GeneDecksing


(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section


HLA-DQA2 for pathways           About GeneDecksing

5 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  HLA-DQA2
    Allograft Rejection Signaling
Antigen Presentation Pathway
OX40 Signaling Pathway
Cytotoxic T Lymphocyte-mediated Apoptosis of Target Cells
Cdc42 Signaling

5/14 Kegg Pathways  (Kegg details for HLA-DQA2) (see all 14):
    hsa04145 Phagosome
hsa04514 Cell adhesion molecules (CAMs)
hsa04612 Antigen processing and presentation
hsa04672 Intestinal immune network for IgA production
hsa04940 Type I diabetes mellitus

    SABiosciences Custom Pathway-Focused PCR Arrays for HLA-DQA2 

    Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for HLA-DQA2
    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HLA-DQA2

5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II IEA--
GO:0006955 immune response NAS3036828
GO:0019882 antigen processing and presentation ----
GO:0031295 T cell costimulation TAS--
GO:0050852 T cell receptor signaling pathway TAS--
About this table

HLA-DQA2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section
Browse Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HLA-DQA2


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib.
RNA:
     
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA for HLA-DQA2
Sigma-Aldrich shRNA for HLA-DQA2
OriGene 29mer shRNA kits in GFP-retroviral vector: HLA-DQA2
OriGene shRNA RFP: HLA-DQA2
OriGene basic RS shRNA: HLA-DQA2
OriGene siRNA: HLA-DQA2
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HLA-DQA2 
miRNA: Sigma-Aldrich microRNA Mimics for HLA-DQA2
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HLA-DQA2 
Search SABiosciences for Assays for microRNAs that regulate HLA-DQA2
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: HLA-DQA2
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HLA-DQA2
OriGene untagged cDNA clones in CMV expression vector: HLA-DQA2
OriGene 3'-UTR Clone: HLA-DQA2 
Browse OriGene MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for HLA-DQA2 
Primers: OriGene genome-wide validated SYBR primer pairs: HLA-DQA2
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for HLA-DQA2: PPH16202A

REFSEQ mRNAs for HLA-DQA2 gene: 

NM_020056.4  

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

BV177276 L34083 AW388115 BV176869 CA306036 BU680454 CK820437 BV177713 
AW388107 BV177637 BV177061 AW388120 BU617246 BM694667 AF533930 CA309331 
NM_002122 BV177914 L46875 BV176870 BV177094 AU076978 BG756170 BG536756 

highest scoring ESTs for HLA-DQA2:

CA306089 CD366175 NM_020056 AA405114 AA862420 AI433246 BC125044 BE041211 BE718938 BF890947 


GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000412842 ENST00000374940(uc003obx.2)

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

HLA-DQA2 expression in normal and diseased human tissues

1  / 3 Data from Genenote  (Publications) and GNF BioGPS
    About these images

HLA-DQA2 gene expression
HLA-DQA2 gene electronic northern expression
HLA-DQA2 gene sage expression
About these images

CGAP SAGE TAG: --

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

Primers: OriGene genome-wide validated SYBR primer pairs: HLA-DQA2
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for HLA-DQA2: PPH16202A
    SABiosciences Custom PCR Arrays for HLA-DQA2 


(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for HLA-DQA2 gene from 2 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
PATR-DQA21   -- major histocompatibility complex, class II, DQ alpha more 98.95(n)
98.04(a)
471976  XM_527354.2  XP_527354.1 
cow
(Bos taurus)
BOLA-DQA51   -- major histocompatibility complex, class II, DQ alpha more 84.18(n)
77.65(a)
282494  NM_001012675.1  NP_001012693.1 
About this table        Species with no ortholog for HLA-DQA2

ENSEMBL Gene Tree for HLA-DQA2 (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for HLA-DQA2 gene
HLA-DOA2  HLA-DQA12  HLA-DPA12  HLA-DRA2  B2M2  HLA-DMA2  

HLA-DQA2 for paralogs           About GeneDecksing



(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

10/596 NCBI SNPs in HLA-DQA2 are shown (see all 596)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 6 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
----------
rs17441,2
C,F32715034(+) CAAGAA/TTTTTG 2 -- ng31 ut315Minor allele frequency- T:0.03MN NS EA 604
rs11299561,2
C,F32713827(+) CTGGAC/TGAGCC 4 D ref1 syn11Minor allele frequency- T:0.22MN 18
rs20515971,2
C,A32709370(-) AAATTG/ACACTC 1 -- int16Minor allele frequency- A:0.01MN NA WA 194
rs20515981,2
C,A32709363(-) ACTCTT/CTCTTT 1 -- int110Minor allele frequency- C:0.10MN NS EA NA WA 584
rs20515991,2
C,F,A32709346(-) AATTTA/C/GCTGTT 1 -- int16MN NS EA NA 462
rs20516001,2
C,F,A32709309(-) TCATGC/TACTCA 1 -- int115Minor allele frequency- T:0.22MN NS EA NA WA 1206
rs20717981,2
C,F,O,A32714592(-) CTTACT/CCAGGC 2 -- ut317Minor allele frequency- C:0.31EA NA 1642
rs20717991,2
C,F,A32714175(-) GGATGA/GGATTC 2 -- ut3111Minor allele frequency- G:0.45NA NS EA 562
rs20718001,2
C,F,H32714143(-) AAGCAC/TCAACT 4 D G mis1 ref111Minor allele frequency- T:0.04EA MN NS NA 2186
rs22135651,2
C,F,A32713188(-) GACACA/GTACCA 1 -- int110Minor allele frequency- G:0.21NS EA MN NA WA 606
About this table

HapMap Linkage Disequilibrium images for HLA-DQA2 (up to first 250kb)
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

QIAGEN SeqTarget long-range PCR primers for resequencing HLA-DQA2 

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HLA-DQA2 for disorders           About GeneDecksing

OMIM: 613503

Locus Specific Mutation Databases (LSDB): HLA-DQA2
Human Genome Epidemiology (HuGE) Navigator: HLA-DQA2 (7 documents)

Export disorders and mutations for HLA-DQA2 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/54 PubMed articles for HLA-DQA2 gene, integrated from 7 sources (see all 54):
(articles sorted by number of sources associating them with HLA-DQA2)
  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. Genome-wide association study in alopecia areata impl icates both innate and adaptive immunity. (PubMed id 20596022)1 Petukhova L....Christiano A.M. (2010 Jul 1)
  8. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1 Ucisik-Akkaya E....Tevfik Dorak M. (2010)
  9. Genome-wide association study of asthma identifies RA D50-IL13 and HLA-DR/DQ regions. (PubMed id 20159242)1 Li X....Bleecker E.R. (2010)
  10. New sequence variants in HLA class II/III region asso ciated with susceptibility to knee osteoarthritis identified by genome-wide ass ociation study. (PubMed id 20305777)1 Nakajima M....Ikegawa S. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
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(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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from XenneX, Inc.)
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Patent Information for HLA-DQA2 gene:
Search GeneIP for patents involving HLA-DQA2

GeneCards and IP:
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(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
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