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Aliases for HLA-DQA2 Gene

Aliases for HLA-DQA2 Gene

  • Major Histocompatibility Complex, Class II, DQ Alpha 2 2 3 5
  • HLA Class II Histocompatibility Antigen, DQ(6) Alpha Chain 3 4
  • MHC Class II DQA2 3 4
  • DX Alpha Chain 3 4
  • HLA-DXA 3 4
  • HLA Class II Histocompatibility Antigen, DQ Alpha 2 Chain 3
  • DX-ALPHA 3
  • HLA-DQA1 4

External Ids for HLA-DQA2 Gene

Previous HGNC Symbols for HLA-DQA2 Gene

  • HLA-DXA

Previous GeneCards Identifiers for HLA-DQA2 Gene

  • GC06P032711
  • GC06P032479
  • GC06P032756
  • GC06P032817
  • GC06P032709

Summaries for HLA-DQA2 Gene

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. Diseases associated with HLA-DQA2 include Systemic Lupus Erythematosus and Rheumatoid Arthritis. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and TCR Signaling (Qiagen). GO annotations related to this gene include MHC class II receptor activity. An important paralog of this gene is HLA-DQA1.

UniProtKB/Swiss-Prot for HLA-DQA2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-DQA2 Gene

Genomics for HLA-DQA2 Gene

Regulatory Elements for HLA-DQA2 Gene

Enhancers for HLA-DQA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around HLA-DQA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for HLA-DQA2 Gene

Chromosome:
6
Start:
32,741,342 bp from pter
End:
32,747,215 bp from pter
Size:
5,874 bases
Orientation:
Plus strand

Genomic View for HLA-DQA2 Gene

Genes around HLA-DQA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-DQA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-DQA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for HLA-DQA2 Gene

  • Protein details for HLA-DQA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01906-DQA2_HUMAN
    Recommended name:
    HLA class II histocompatibility antigen, DQ alpha 2 chain
    Protein Accession:
    P01906
    Secondary Accessions:
    • A2BF37
    • B0V0E7
    • O19789
    • Q5SQ94
    • Q5SR04

    Protein attributes for HLA-DQA2 Gene

    Size:
    255 amino acids
    Molecular mass:
    28033 Da
    Quaternary structure:
    • 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.

neXtProt entry for HLA-DQA2 Gene

Post-translational modifications for HLA-DQA2 Gene

  • Glycosylation at Asn 104 and Asn 144
  • Modification sites at PhosphoSitePlus

Other Protein References for HLA-DQA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HLA-DQA2 Gene

Domains & Families for HLA-DQA2 Gene

Suggested Antigen Peptide Sequences for HLA-DQA2 Gene

Graphical View of Domain Structure for InterPro Entry

P01906

UniProtKB/Swiss-Prot:

DQA2_HUMAN :
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Belongs to the MHC class II family.
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
Family:
  • Belongs to the MHC class II family.
genes like me logo Genes that share domains with HLA-DQA2: view

Function for HLA-DQA2 Gene

Molecular function for HLA-DQA2 Gene

GENATLAS Biochemistry:
HLA-DQ,alpha chain-related,not known to be expressed
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for HLA-DQA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032395 MHC class II receptor activity NAS 3036828
genes like me logo Genes that share ontologies with HLA-DQA2: view
genes like me logo Genes that share phenotypes with HLA-DQA2: view

Animal Model Products

CRISPR Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HLA-DQA2 Gene

Localization for HLA-DQA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-DQA2 Gene

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
Jensen Localization Image for HLA-DQA2 Gene COMPARTMENTS Subcellular localization image for HLA-DQA2 gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for HLA-DQA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005765 lysosomal membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 3036828
GO:0010008 endosome membrane IEA --
genes like me logo Genes that share ontologies with HLA-DQA2: view

Pathways & Interactions for HLA-DQA2 Gene

genes like me logo Genes that share pathways with HLA-DQA2: view

Interacting Proteins for HLA-DQA2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000364076%0d%0a9606.ENSP00000382034%0d%0a9606.ENSP00000011653%0d%0a9606.ENSP00000250971%0d%0a9606.ENSP00000408146%0d%0a9606.ENSP00000390431%0d%0a
Selected Interacting proteins: ENSP00000364076 P01906-DQA2_HUMAN for HLA-DQA2 Gene via STRING IID

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
CD4

Gene Ontology (GO) - Biological Process for HLA-DQA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response NAS 3036828
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0031295 T cell costimulation TAS --
GO:0050852 T cell receptor signaling pathway TAS --
GO:0060333 interferon-gamma-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with HLA-DQA2: view

No data available for SIGNOR curated interactions for HLA-DQA2 Gene

Drugs & Compounds for HLA-DQA2 Gene

(1) Drugs for HLA-DQA2 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Insulin Pork Approved Pharma Target 0
genes like me logo Genes that share compounds with HLA-DQA2: view

Transcripts for HLA-DQA2 Gene

mRNA/cDNA for HLA-DQA2 Gene

(1) REFSEQ mRNAs :
(548) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-DQA2 Gene

No ASD Table

Relevant External Links for HLA-DQA2 Gene

GeneLoc Exon Structure for
HLA-DQA2
ECgene alternative splicing isoforms for
HLA-DQA2

Expression for HLA-DQA2 Gene

mRNA expression in normal human tissues for HLA-DQA2 Gene

mRNA differential expression in normal tissues according to GTEx for HLA-DQA2 Gene

This gene is overexpressed in Spleen (x4.6).

Protein differential expression in normal tissues from HIPED for HLA-DQA2 Gene

This gene is overexpressed in Adipocyte (43.1), Cervix (10.0), and Peripheral blood mononuclear cells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HLA-DQA2 Gene



mRNA Expression by UniProt/SwissProt for HLA-DQA2 Gene:

P01906-DQA2_HUMAN
Tissue specificity: Restricted to skin Langerhans cells, although some expression at low levels may occur at the surface of B lymphoblastoid cells.
genes like me logo Genes that share expression patterns with HLA-DQA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for HLA-DQA2 Gene

Orthologs for HLA-DQA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HLA-DQA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BOLA-DQA5 34
  • 85.36 (n)
  • 79.22 (a)
BOLA-DQA1 35
  • 77 (a)
ManyToMany
BOLA-DQA2 35
  • 58 (a)
ManyToMany
BOLA-DQA5 35
  • 79 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia DLA-DQA1 34
  • 86.14 (n)
  • 80 (a)
DLA-DQA 35
  • 45 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia PATR-DQA2 34
  • 98.82 (n)
  • 98.04 (a)
HLA-DQA2 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia H2-Aa 35
  • 70 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 48 (a)
ManyToMany
-- 35
  • 47 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495492 34
  • 58.39 (n)
  • 48.91 (a)
zebrafish
(Danio rerio)
Actinopterygii CU914776.1 35
  • 21 (a)
ManyToMany
si:busm1-228j01.5 35
  • 23 (a)
ManyToMany
si:ch1073-403i13.1 35
  • 31 (a)
ManyToMany
si:ch73-211l2.3 35
  • 24 (a)
ManyToMany
si:zfos-367g9.1 35
  • 27 (a)
ManyToMany
Species where no ortholog for HLA-DQA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HLA-DQA2 Gene

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

Paralogs for HLA-DQA2 Gene

genes like me logo Genes that share paralogs with HLA-DQA2: view

Variants for HLA-DQA2 Gene

Sequence variations from dbSNP and Humsavar for HLA-DQA2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs9276436 - 32,746,306(+) GTCTG(C/T)GGGCC reference, missense
rs2071800 - 32,746,366(-) AAGCA(C/T)CAACT reference, missense
rs1129956 -- 32,746,050(+) CTGGA(C/G/T)GAGCC reference, synonymous-codon, missense
rs5018343 -- 32,742,342(+) TTACT(A/T)GTTCT intron-variant
rs5021448 -- 32,739,929(+) CAGGA(C/T)ACTTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HLA-DQA2 Gene

Variant ID Type Subtype PubMed ID
dgv10472n54 CNV loss 21841781
dgv10490n54 CNV loss 21841781
dgv10549n54 CNV loss 21841781
dgv10586n54 CNV loss 21841781
dgv1113e199 CNV deletion 23128226
dgv999e201 CNV deletion 23290073
esv21985 CNV gain+loss 19812545
esv2670072 CNV deletion 23128226
esv32761 CNV loss 17666407
esv6650 CNV loss 19470904
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv428142 CNV gain+loss 18775914
nsv511120 OTHER complex 20534489
nsv602240 CNV gain 21841781
nsv602758 CNV gain+loss 21841781
nsv830632 CNV loss 17160897

Variation tolerance for HLA-DQA2 Gene

Residual Variation Intolerance Score: 89.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.79; 73.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HLA-DQA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLA-DQA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HLA-DQA2 Gene

Disorders for HLA-DQA2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HLA-DQA2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
systemic lupus erythematosus
  • lupus nephritis
rheumatoid arthritis
  • rheumatoid arthritis, progression of
narcolepsy
  • narcolepsy, without cataplexy
podoconiosis
  • podoconiosis, susceptibility to
diabetes mellitus, insulin-dependent
  • diabetes, type 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HLA-DQA2

Genetic Association Database (GAD)
HLA-DQA2
Human Genome Epidemiology (HuGE) Navigator
HLA-DQA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HLA-DQA2
genes like me logo Genes that share disorders with HLA-DQA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HLA-DQA2 Gene

Publications for HLA-DQA2 Gene

  1. HLA-DQA2 and HLA-DQB2 genes are specifically expressed in human Langerhans cells and encode a new HLA class II molecule. (PMID: 22407913) Lenormand C. … Tourne S. (J. Immunol. 2012) 3 4 65
  2. Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions. (PMID: 20159242) Li X. … Bleecker E.R. (J. Allergy Clin. Immunol. 2010) 3 46 65
  3. New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study. (PMID: 20305777) Nakajima M. … Ikegawa S. (PLoS ONE 2010) 3 46 65
  4. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E. … Dorak M.T. (Mol. Hum. Reprod. 2010) 3 46 65
  5. Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. (PMID: 20711174) Hor H. … Tafti M. (Nat. Genet. 2010) 3 46 65

Products for HLA-DQA2 Gene

Sources for HLA-DQA2 Gene

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