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Aliases for HLA-DQA2 Gene

Aliases for HLA-DQA2 Gene

  • Major Histocompatibility Complex, Class II, DQ Alpha 2 2 3
  • HLA-DXA 3 4 6
  • HLA Class II Histocompatibility Antigen, DQ(6) Alpha Chain 3 4
  • MHC Class II DQA2 3 4
  • DX Alpha Chain 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 Symbols for HLA-DQA2 Gene

  • HLA-DXA

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 hiv-1. Among its related pathways are Class I MHC mediated antigen processing and presentation and GPCR Pathway. GO annotations related to this gene include MHC class II receptor activity. An important paralog of this gene is HLA-DMA.

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

Genomic Location for HLA-DQA2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HLA-DQA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for HLA-DQA2 Gene

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

Proteomics data for HLA-DQA2 Gene at MOPED

Post-translational modifications for HLA-DQA2 Gene

  • Glycosylation at Asn104 and Asn144

Other Protein References for HLA-DQA2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

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

Domains for HLA-DQA2 Gene

Gene Families for HLA-DQA2 Gene

HGNC:
  • C1SET :Immunoglobulin superfamily / C1-set domain containing
  • HLA :Histocompatibility complex

UniProtKB/Swiss-Prot:

DQA2_HUMAN
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.:
    • P01906
Family:
  • Belongs to the MHC class II family.:
    • P01906
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:0005515 protein binding --
GO:0032395 MHC class II receptor activity NAS 3036828
genes like me logo Genes that share ontologies with HLA-DQA2: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
endoplasmic reticulum 5
endosome 5
lysosome 5
plasma membrane 5
vacuole 5
golgi apparatus 4
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:0005768 endosome --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 3036828
genes like me logo Genes that share ontologies with HLA-DQA2: view

Pathways for HLA-DQA2 Gene

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

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response NAS 3036828
GO:0019221 cytokine-mediated signaling pathway TAS --
GO:0019882 antigen processing and presentation --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0031295 T cell costimulation TAS --
genes like me logo Genes that share ontologies with HLA-DQA2: view

Compounds for HLA-DQA2 Gene

(1) Drugbank Compounds for HLA-DQA2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Insulin, porcine
9004-14-2 target
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 (4.6).

Integrated Proteomics: protein expression 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 expressions with HLA-DQA2: view

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
chimpanzee
(Pan troglodytes)
Mammalia HLA-DQA2 37
  • 98 (a)
OneToOne
PATR-DQA2 36
  • 98.82 (n)
  • 98.04 (a)
cow
(Bos Taurus)
Mammalia BOLA-DQA1 37
  • 77 (a)
ManyToMany
BOLA-DQA2 37
  • 58 (a)
ManyToMany
BOLA-DQA5 36
  • 85.36 (n)
  • 79.22 (a)
BOLA-DQA5 37
  • 79 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia DLA-DQA 37
  • 45 (a)
OneToMany
DLA-DQA1 36
  • 86.14 (n)
  • 80 (a)
mouse
(Mus musculus)
Mammalia H2-Aa 37
  • 70 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 48 (a)
ManyToMany
-- 37
  • 47 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495492 36
  • 58.39 (n)
  • 48.91 (a)
zebrafish
(Danio rerio)
Actinopterygii CU914776.1 37
  • 21 (a)
ManyToMany
si:busm1-228j01.5 37
  • 23 (a)
ManyToMany
si:ch1073-403i13.1 37
  • 31 (a)
ManyToMany
si:ch73-211l2.3 37
  • 24 (a)
ManyToMany
si:zfos-367g9.1 37
  • 27 (a)
ManyToMany
Species with no ortholog for HLA-DQA2:
  • 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 MAF
rs1744 -- 32,747,257(+) CAAGA(A/T)TTTTG downstream-variant-500B
rs1129956 -- 32,746,050(+) CTGGA(C/T)GAGCC reference, synonymous-codon
rs2051597 -- 32,741,593(-) AAATT(A/G)CACTC intron-variant
rs2051598 -- 32,741,586(-) ACTCT(C/T)TCTTT intron-variant
rs2051599 -- 32,741,569(-) AATTT(A/C/G)CTGTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv428142 CNV Gain+Loss 18775914
esv21985 CNV Gain+Loss 19812545
nsv511120 CNV Complex 20534489
nsv830632 CNV Loss 17160897
dgv1046e201 CNV Deletion 23290073
dgv1113e199 CNV Deletion 23128226
esv6650 CNV Loss 19470904
esv2670072 CNV Deletion 23128226
esv32761 CNV Loss 17666407
nsv885706 CNV Gain 21882294

Relevant External Links for HLA-DQA2 Gene

HapMap Linkage Disequilibrium report
HLA-DQA2
Locus Specific Mutation Databases (LSDB)
HLA-DQA2

Disorders for HLA-DQA2 Gene

(1) MalaCards Diseases for HLA-DQA2 Gene

Search for HLA-DQA2 Gene in MalaCards »

(2) University of Copenhagen DISEASES for HLA-DQA2 Gene

Relevant External Links for HLA-DQA2

Genetic Association Database (GAD)
HLA-DQA2
Human Genome Epidemiology (HuGE) Navigator
HLA-DQA2
genes like me logo Genes that share disorders with HLA-DQA2: view

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

Publications for HLA-DQA2 Gene

  1. Ancient roots for polymorphism at the HLA-DQ alpha locus in primates. (PMID: 2513578) Gyllensten U.B. … Erlich H.A. (Proc. Natl. Acad. Sci. U.S.A. 1989) 3 4
  2. Class II genes of the human major histocompatibility complex. Comparisons of the DQ and DX alpha and beta genes. (PMID: 3036828) Jonsson A.-K. … Rask L. (J. Biol. Chem. 1987) 3 4
  3. Isotypic and allotypic variation of human class II histocompatibility antigen alpha-chain genes. (PMID: 6584734) Auffray C. … Strominger J.L. (Nature 1984) 3 4
  4. The nonpolymorphic MHC class II isotype, HLA-DQA2, is expressed on the surface of B lymphoblastoid cells. (PMID: 9036956) Rudy G.B. … Lew A.M. (J. Immunol. 1997) 3 4
  5. Limited polymorphism of the HLA-DQA2 promoter and identification of a variant octamer. (PMID: 8026991) Rudy G. … Lew A.M. (Hum. Immunol. 1994) 3 4

Products for HLA-DQA2 Gene

  • QIAGEN qRT-PCR Assays for microRNAs that regulate HLA-DQA2
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for HLA-DQA2
    • Block miRNA regulation of HLA-DQA2 using miScript Target Protectors

    Sources for HLA-DQA2 Gene

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