HLA-DQA2 (major histocompatibility complex, class II, DQ alpha 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 3118
Gene name Major histocompatibility complex, class II, DQ alpha 2
Gene symbol HLA-DQA2
Synonyms (NCBI Gene)
DC-alphaDQA1DX-ALPHAHLA-DCAHLA-DXAHLADQA2
Chromosome 6
Chromosome location 6p21.32
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 r
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT2243291 hsa-miR-1253 CLIP-seq
MIRT2243292 hsa-miR-1270 CLIP-seq
MIRT2243293 hsa-miR-137 CLIP-seq
MIRT2243294 hsa-miR-2115 CLIP-seq
MIRT2243295 hsa-miR-3919 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
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Transcription factor Regulation Reference
RFX5 Unknown 11258423
RFXANK Unknown 11258423
RFXAP Unknown 11258423
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0002503 Process Peptide antigen assembly with MHC class II protein complex IBA
GO:0002504 Process Antigen processing and presentation of peptide or polysaccharide antigen via MHC class II IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
613503 4943 ENSG00000237541
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01906
Protein name HLA class II histocompatibility antigen, DQ alpha 2 chain (DX alpha chain) (HLA class II histocompatibility antigen, DQ(6) alpha chain) (HLA-DQA1) (MHC class II DQA2)
Protein 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. T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00993 MHC_II_alpha 29 → 109 Class II histocompatibility antigen, alpha domain Domain
PF07654 C1-set 115 → 196 Immunoglobulin C1-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Restricted to skin Langerhans cells, although some expression at low levels may occur at the surface of B lymphoblastoid cells. {ECO:0000269|PubMed:22407913, ECO:0000269|PubMed:9036956}.
Sequence 
MILNKALLLGALALTAVMSPCGGEDIVADHVASYGVNFYQSHGPSGQYTHEFDGDEEFYV
DLETKETVWQLPMFSKFISFDPQSALRNMAVGKHTLEFMMRQSNSTAATNEVPEVTVFSK
FPVTLGQPNTLICLVDNIFPPVVNITWLSNGHSVTEGVSETSFLSKSDHSFFKISYLTFL
PSADEIYDCKVEHWGLDEPLLKHWEPEIPAPMSELTETLVCALGLSVGLMGIVVGTVFII
QGLRSVGASRHQGLL
Sequence length 255
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Phagosome Downstream TCR signaling
Cell adhesion molecules Phosphorylation of CD3 and TCR zeta chains
Antigen processing and presentation Translocation of ZAP-70 to Immunological synapse
Hematopoietic cell lineage Generation of second messenger molecules
Th1 and Th2 cell differentiation MHC class II antigen presentation
Th17 cell differentiation PD-1 signaling
Intestinal immune network for IgA production Interferon gamma signaling
Type I diabetes mellitus  
Leishmaniasis  
Toxoplasmosis  
Staphylococcus aureus infection  
Tuberculosis  
Influenza A  
Human T-cell leukemia virus 1 infection  
Herpes simplex virus 1 infection  
Epstein-Barr virus infection  
Asthma  
Autoimmune thyroid disease  
Inflammatory bowel disease  
Systemic lupus erythematosus  
Rheumatoid arthritis  
Allograft rejection  
Graft-versus-host disease  
Viral myocarditis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (19)
Phenotype Name Clinical Significance Source Reference Evidence Score
AMBLYOPIA — GWAS catalog 30098192
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID — CTD 17568789
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — Disgenet, GWAS catalog
Disgenet, GWAS catalog 		31669095
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 28540026
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER — GWAS catalog 32887889
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (58)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Addison Disease Addison`s Disease BEFREE 11703366, 7608264
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASDB_DG 19836008
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 21150878
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma GWASCAT_DG 31619474
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Chronic Hepatitis Autoimmune hepatitis GWASCAT_DG 24768677
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 11073185, 11703366, 31331105, 8737022, 9027960, 9226129
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma GWASCAT_DG 28604730
★★★★★
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease BEFREE 11703366, 12039527, 22976110, 27083396, 31331105
★★★★★
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease GWASDB_DG 17558408, 20190752
★★★★★
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease GWASCAT_DG 17558408, 20190752
★★★★★
★☆☆☆☆
Found in Text Mining only
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HLA-DPB1 2 shared diseasesCervical cancer, Narcolepsy 31 shared pathwaysPhagosome, Cell adhesion molecules, Antigen processing and presentation, Hematopoietic cell lineage, Th1 and Th2 cell differentiation, Th17 cell differentiation, Intestinal immune network for IgA production, Type I diabetes mellitus, Leishmaniasis, Toxoplasmosis, Staphylococcus aureus infection, Tuberculosis +19 more 3 shared evidence sourcesCTD (Rheumatoid arthritis), Disgenet (Asthma), GWAS catalog (Cervical cancer) Related via 31 shared pathways including Phagosome, Cell adhesion molecules — evidence mostly CTD. HLA-DRA 2 shared diseasesCervical cancer, Sclerosing cholangitis 31 shared pathwaysPhagosome, Cell adhesion molecules, Antigen processing and presentation, Hematopoietic cell lineage, Th1 and Th2 cell differentiation, Th17 cell differentiation, Intestinal immune network for IgA production, Type I diabetes mellitus, Leishmaniasis, Toxoplasmosis, Staphylococcus aureus infection, Tuberculosis +19 more 3 shared evidence sourcesDisgenet (Asthma), GWAS catalog (Cervical cancer), GWAS catalog (Sclerosing cholangitis) Related via 31 shared pathways including Phagosome, Cell adhesion molecules — evidence mostly GWAS catalog. HLA-DQB1 4 shared diseasesCervical cancer, Diabetes mellitus, Narcolepsy, Sclerosing cholangitis 31 shared pathwaysPhagosome, Cell adhesion molecules, Antigen processing and presentation, Hematopoietic cell lineage, Th1 and Th2 cell differentiation, Th17 cell differentiation, Intestinal immune network for IgA production, Type I diabetes mellitus, Leishmaniasis, Toxoplasmosis, Staphylococcus aureus infection, Tuberculosis +19 more 5 shared evidence sourcesDisgenet (Asthma), GWAS catalog (Cervical cancer), GWAS catalog (Diabetes mellitus), GWAS catalog (Narcolepsy), GWAS catalog (Sclerosing cholangitis) Related via 31 shared pathways including Phagosome, Cell adhesion molecules — evidence mostly GWAS catalog. HLA-DQA1 4 shared diseasesCervical cancer, Diabetes mellitus, Narcolepsy, Sclerosing cholangitis 31 shared pathwaysPhagosome, Cell adhesion molecules, Antigen processing and presentation, Hematopoietic cell lineage, Th1 and Th2 cell differentiation, Th17 cell differentiation, Intestinal immune network for IgA production, Type I diabetes mellitus, Leishmaniasis, Toxoplasmosis, Staphylococcus aureus infection, Tuberculosis +19 more 5 shared evidence sourcesDisgenet (Asthma), GWAS catalog (Cervical cancer), GWAS catalog (Diabetes mellitus), GWAS catalog (Narcolepsy), GWAS catalog (Sclerosing cholangitis) Related via 31 shared pathways including Phagosome, Cell adhesion molecules — evidence mostly GWAS catalog. HLA-DPA1 1 shared diseaseCervical cancer 31 shared pathwaysPhagosome, Cell adhesion molecules, Antigen processing and presentation, Hematopoietic cell lineage, Th1 and Th2 cell differentiation, Th17 cell differentiation, Intestinal immune network for IgA production, Type I diabetes mellitus, Leishmaniasis, Toxoplasmosis, Staphylococcus aureus infection, Tuberculosis +19 more 2 shared evidence sourcesDisgenet (Asthma), GWAS catalog (Cervical cancer) Related via 31 shared pathways including Phagosome, Cell adhesion molecules — evidence mostly Disgenet.
Celiac disease Linked via 5 of 5 related genesHLA-DPB1, HLA-DRA, HLA-DQB1, HLA-DQA1, HLA-DPA1 Diabetes mellitus type 1 Linked via 5 of 5 related genesHLA-DPB1, HLA-DRA, HLA-DQB1, HLA-DQA1, HLA-DPA1 Gout Linked via 5 of 5 related genesHLA-DPB1, HLA-DRA, HLA-DQB1, HLA-DQA1, HLA-DPA1 Lung cancer Linked via 5 of 5 related genesHLA-DPB1, HLA-DRA, HLA-DQB1, HLA-DQA1, HLA-DPA1 Systemic sclerosis Linked via 5 of 5 related genesHLA-DPB1, HLA-DRA, HLA-DQB1, HLA-DQA1, HLA-DPA1