Homo sapiens Gene: HLA-DQA2
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:32741342-32747215
Strand Forward strand
Band p21.32
Transcripts
ENST00000374940 ENSP00000364076
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0032395 MHC class II receptor activity
Biological Process
GO:0006955 immune response
GO:0019221 cytokine-mediated signaling pathway
GO:0019882 antigen processing and presentation
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0031295 T cell costimulation
GO:0050852 T cell receptor signaling pathway
GO:0060333 interferon-gamma-mediated signaling pathway
Cellular Component
GO:0000139 Golgi membrane
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0010008 endosome membrane
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0030658 transport vesicle membrane
GO:0030666 endocytic vesicle membrane
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0032588 trans-Golgi network membrane
GO:0042613 MHC class II protein complex
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane
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
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
INOH
CD4 T cell receptor signaling pathway
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