Aliases &
Descriptions
for HLA-DQA2 gene
(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 |
Export aliases for HLA-DQA2 gene to outside databasesPrevious GC identifers: GC06P032711 GC06P032756 GC06P032817 GC06P032709 |
Summaries
for HLA-DQA2 gene(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 betachain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class IImolecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed inantigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides onthe cell surface to be recognized by CD4 T-cells. (provided by RefSeq)
UniProtKB/Swiss-Prot: DQA2_HUMAN, P01906Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) andpresents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accomodates peptidesof 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteinsthat access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenousantigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, andfor this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on theirway to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomalcompartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also asource of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In additionto APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents anantigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in theER to form an heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigenprocessing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving asmall fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DMvia direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II moleculesuntil primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transportedto the cell membrane surface. In B cells, the interaction between HLA-DM and MHC class II molecules is regulated byHLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in theregulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis andefficient peptide loading
Gene Wiki entry for HLA-DQA2 |
Genomic Views
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 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: 6p21.3HLA-DQA2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 | |
|
Proteins
for HLA-DQA2 gene
(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 endoplasmicreticulum (ER) it forms an heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=The MHCclass II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches thecell membrane for antigen presentation
Caution: There is some controversy on whether this gene is really expressed or not
Secondary accessions: A2BF37 B0V0E7 O19789 Q5SQ94 Q5SR04Explore the universe of human proteins at neXtProt for HLA-DQA2: NX_P01906
REFSEQ proteins: NP_064440.1
ENSEMBL proteins: ENSP00000388256 ENSP00000364076
Human Recombinant Proteins
5/10 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 10): About this table
HLA-DQA2 for ontologies About GeneDecksing
Antibodies for HLA-DQA2:
Assays for HLA-DQA2: |
Protein
Domains/
Families
for HLA-DQA2 gene(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):Graphical View of Domain Structure for InterPro Entry P01906ProtoNet protein and cluster: P01906 2 Blocks protein families: IPB001003 MHC Class II alpha chain IPB003597 Immunoglobulin C-type
UniProtKB/Swiss-Prot: DQA2_HUMAN, P01906Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain |
Gene Function
for HLA-DQA2 gene
(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, P01906Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) andpresents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accomodates peptidesof 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteinsthat access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenousantigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, andfor this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on theirway to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomalcompartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also asource of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In additionto APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents anantigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in theER to form an heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigenprocessing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving asmall fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DMvia direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II moleculesuntil primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transportedto the cell membrane surface. In B cells, the interaction between HLA-DM and MHC class II molecules is regulated byHLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in theregulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis andefficient peptide loading
Genatlas biochemistry entry for HLA-DQA2:HLA-DQ,alpha chain-related,not known to be expressed2 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
HLA-DQA2 for ontologies About GeneDecksing
|
Pathways & Interactions
for HLA-DQA2 gene
(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
5/14  Kegg Pathways (Kegg details for HLA-DQA2) (see all 14):
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 ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0002504 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II |
IEA | -- | | GO:0006955 | immune response |
NAS | 3036828 | | 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
|
Drugs & Compounds
for HLA-DQA2 gene(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 Tocris compounds for HLA-DQA2
|
Transcripts
for HLA-DQA2 gene(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
|
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)
|
Expression
for HLA-DQA2 gene
(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
About these images
CGAP SAGE TAG: --
UniProtKB/Swiss-Prot: DQA2_HUMAN, P01906Tissue specificity: Expressed at low levels at the surface of B lymphoblastoid cells
SABiosciences Custom PCR Arrays for HLA-DQA2
|
Orthologs
for HLA-DQA2 gene
(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
About this table Species with no ortholog for HLA-DQA2
ENSEMBL Gene Tree for HLA-DQA2 (if available) |
Paralogs
for HLA-DQA2 gene(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
|
Genomic Variants
for HLA-DQA2 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 6 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap 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 |
|
Disorders & Mutations
for HLA-DQA2 gene
(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
|
Medical News
for HLA-DQA2 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications
for HLA-DQA2 gene (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)- 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)
- 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)
- 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)
- 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)
- 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)
- Isotypic and allotypic variation of human class II histocompatibility antigen alpha-chain genes. (PubMed id 6584734)1, 2 Auffray C....Strominger J.L. (1984)
- 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)
- Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1 Ucisik-Akkaya E....Tevfik Dorak M. (2010)
- 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)
- 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)
|
External Searches for HLA-DQA2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing HLA-DQA2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HLA-DQA2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HLA-DQA2 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
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
|
Products
for HLA-DQA2 gene(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)
About This Section
|
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