Homo sapiens Gene: HLA-DQA2 | |||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||
InnateDB Gene | IDBG-303864.4 | ||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||
Gene Symbol | HLA-DQA2 | ||||||||||||||||||||||||||
Gene Name | major histocompatibility complex, class II, DQ alpha 2 | ||||||||||||||||||||||||||
Synonyms | CD; CELIAC1; DQ-A1; DX-ALPHA; GSE; HLA-DQA; HLA-DXA | ||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||
Ensembl Gene | ENSG00000237541 | ||||||||||||||||||||||||||
Encoded Proteins |
major histocompatibility complex, class II, DQ alpha 2
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Protein Structure | |||||||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||||
Summary |
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] HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008] |
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Gene Information | |||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||
Genomic Location | Chromosome 6:32741342-32747215 | ||||||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||||||
Band | p21.32 | ||||||||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||||
No orthologs found for this gene | |||||||||||||||||||||||||||
Pathways | |||||||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||||||
REACTOME |
MHC class II antigen presentation pathway
Downstream TCR signaling pathway
Generation of second messenger molecules pathway
Translocation of ZAP-70 to Immunological synapse pathway
Phosphorylation of CD3 and TCR zeta chains pathway
Interferon gamma signaling pathway
PD-1 signaling pathway
Costimulation by the CD28 family pathway
TCR signaling pathway
Cytokine Signaling in Immune system pathway
Interferon Signaling pathway
Adaptive Immune System pathway
Immune System pathway
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KEGG |
Cell adhesion molecules (CAMs) pathway
Antigen processing and presentation pathway
Type I diabetes mellitus pathway
Allograft rejection pathway
Autoimmune thyroid disease pathway
Systemic lupus erythematosus pathway
Graft-versus-host disease pathway
Asthma pathway
Intestinal immune network for IgA production pathway
Viral myocarditis pathway
Leishmaniasis pathway
Staphylococcus aureus infection pathway
Toxoplasmosis pathway
Phagosome pathway
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INOH |
CD4 T cell receptor signaling pathway
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PID NCI | |||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||||
UniGene | |||||||||||||||||||||||||||
RefSeq | NM_020056 | ||||||||||||||||||||||||||
HUGO | |||||||||||||||||||||||||||
OMIM | |||||||||||||||||||||||||||
CCDS | CCDS4753 | ||||||||||||||||||||||||||
HPRD | 09982 | ||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||
EMBL | |||||||||||||||||||||||||||
GenPept | |||||||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||||||