HLA-DQA1 (major histocompatibility complex, class II, DQ alpha 1)

2007-02-01  

Identity

HGNC
LOCATION
6p21.32
LOCUSID
ALIAS
CELIAC1,DQ-A1,DQA1,HLA-DQA
FUSION GENES

Other Information

Locus ID:

NCBI: 3117
MIM: 146880
HGNC: 4942
Ensembl: ENSG00000196735

Variants:

dbSNP: 3117
ClinVar: 3117
TCGA: ENSG00000196735
COSMIC: HLA-DQA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196735ENST00000343139P01909
ENSG00000196735ENST00000343139A0A173ADG5
ENSG00000196735ENST00000374949P01909
ENSG00000196735ENST00000374949A0A173ADG5
ENSG00000196735ENST00000395363P01909
ENSG00000196735ENST00000395363A0A173ADG5
ENSG00000196735ENST00000422863F6UB03
ENSG00000196735ENST00000482745E9PI37
ENSG00000196735ENST00000496318E9PMV2

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Antigen processing and presentationKEGGko04612
Hematopoietic cell lineageKEGGko04640
Type I diabetes mellitusKEGGko04940
AsthmaKEGGko05310
Autoimmune thyroid diseaseKEGGko05320
Systemic lupus erythematosusKEGGko05322
Allograft rejectionKEGGko05330
Graft-versus-host diseaseKEGGko05332
Cell adhesion molecules (CAMs)KEGGhsa04514
Antigen processing and presentationKEGGhsa04612
Hematopoietic cell lineageKEGGhsa04640
Type I diabetes mellitusKEGGhsa04940
AsthmaKEGGhsa05310
Autoimmune thyroid diseaseKEGGhsa05320
Systemic lupus erythematosusKEGGhsa05322
Allograft rejectionKEGGhsa05330
Graft-versus-host diseaseKEGGhsa05332
Viral myocarditisKEGGhsa05416
Intestinal immune network for IgA productionKEGGko04672
Intestinal immune network for IgA productionKEGGhsa04672
LeishmaniasisKEGGko05140
LeishmaniasisKEGGhsa05140
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
ToxoplasmosisKEGGko05145
ToxoplasmosisKEGGhsa05145
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
Influenza AKEGGko05164
Influenza AKEGGhsa05164
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
Inflammatory bowel disease (IBD)KEGGhsa05321
Inflammatory bowel disease (IBD)KEGGko05321
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
TCR signalingREACTOMER-HSA-202403
Phosphorylation of CD3 and TCR zeta chainsREACTOMER-HSA-202427
Translocation of ZAP-70 to Immunological synapseREACTOMER-HSA-202430
Generation of second messenger moleculesREACTOMER-HSA-202433
Downstream TCR signalingREACTOMER-HSA-202424
Costimulation by the CD28 familyREACTOMER-HSA-388841
PD-1 signalingREACTOMER-HSA-389948
MHC class II antigen presentationREACTOMER-HSA-2132295
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Interferon gamma signalingREACTOMER-HSA-877300
Th1 and Th2 cell differentiationKEGGko04658
Th1 and Th2 cell differentiationKEGGhsa04658
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA131285571aspirin-induced asthmaDiseaseVariantAnnotationnot associatedPD26366802
PA152241907lapatinibChemicalClinicalAnnotation, LabelAnnotation, VariantAnnotationassociatedPD21245432, 24687830
PA164712708Drugs For Treatment Of TuberculosisChemicalVariantAnnotationassociatedPD12359646
PA164769031lumiracoxibChemicalVariantAnnotationassociatedPD20639878
PA164925725Toxic liver diseaseDiseaseClinicalAnnotation, VariantAnnotationambiguousPD12359646, 20639878, 21245432, 24687830
PA165951292HLA-DQA1*02:01HaplotypeLabelAnnotationassociated
PA165951644HLA-DRB1*07:01:01:01HaplotypeLabelAnnotationassociated
PA443560Breast NeoplasmsDiseaseVariantAnnotationambiguousPD21245432, 24687830
PA443937Drug ToxicityDiseaseClinicalAnnotationassociatedPD25217962
PA445220PancreatitisDiseaseClinicalAnnotation, VariantAnnotationassociatedPD25217962
PA445941TuberculosisDiseaseVariantAnnotationambiguousPD12359646
PA446116Inflammatory Bowel DiseasesDiseaseClinicalAnnotation, VariantAnnotationassociatedPD25217962
PA448497aspirinChemicalVariantAnnotationnot associatedPD26366802
PA448515azathioprineChemicalClinicalAnnotation, VariantAnnotationassociatedPD25217962
PA450037interferon beta-1aChemicalClinicalAnnotationassociatedPD21502966
PA450039interferon beta-1bChemicalClinicalAnnotationassociatedPD21502966
PA450112isoniazidChemicalVariantAnnotationnot associatedPD
PA450196letrozoleChemicalVariantAnnotationnot associatedPD21245432
PA450379mercaptopurineChemicalClinicalAnnotation, VariantAnnotationassociatedPD25217962
PA451182pyrazinamideChemicalVariantAnnotationnot associatedPD
PA451250rifampinChemicalVariantAnnotationnot associatedPD

References

Pubmed IDYearTitleCitations
195718112009Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.1713
195718092009Common variants on chromosome 6p22.1 are associated with schizophrenia.407
177855832007High-resolution donor-recipient HLA matching contributes to the success of unrelated donor marrow transplantation.316
182528952008HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: analysis of the type 1 diabetes genetics consortium families.233
182528952008HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: analysis of the type 1 diabetes genetics consortium families.233
151919522004Impact of HLA class I and class II high-resolution matching on outcomes of unrelated donor bone marrow transplantation: HLA-C mismatching is associated with a strong adverse effect on transplantation outcome.153
213235412011Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.136
178696532007High-resolution HLA alleles and haplotypes in the United States population.130
111790162001Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups.107
126510742003HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease.107

Citation

Dessen P

HLA-DQA1 (major histocompatibility complex, class II, DQ alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43951/hla-dqa1