HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1)

2007-02-01  

Identity

HGNC
HLA-DQB1
LOCATION
6p21.32
LOCUSID
3119
ALIAS
CELIAC1,HLA-DQB,IDDM1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3119
MIM: 604305
HGNC: 4944
Ensembl: ENSG00000179344

Variants:

dbSNP: 3119
ClinVar: 3119
TCGA: ENSG00000179344
COSMIC: HLA-DQB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179344ENST00000374943Q5SU54
ENSG00000179344ENST00000399079A2AAZ0
ENSG00000179344ENST00000399082A2AAY8
ENSG00000179344ENST00000399084Q5Y7D6
ENSG00000179344ENST00000434651Q5Y7D6
ENSG00000179344ENST00000484729E9PIB1

Expression (GTEx)

0
100
200
300
400
500
600
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA131285571aspirin-induced asthmaDiseaseVariantAnnotationambiguousPD15007363, 26366802
PA164712708Drugs For Treatment Of TuberculosisChemicalVariantAnnotationassociatedPD12359646, 25250564
PA164712830Influenza vaccinesChemicalClinicalAnnotation, VariantAnnotationambiguousPD11756990, 21102981, 22249484, 23486871, 25264897
PA164742987clavulanateChemicalClinicalAnnotation, VariantAnnotationassociatedPD10535882, 30664875
PA164769031lumiracoxibChemicalVariantAnnotationassociatedPD20639878
PA164781042flucloxacillinChemicalVariantAnnotationassociatedPD30664875
PA164925725Toxic liver diseaseDiseaseVariantAnnotationambiguousPD12359646, 17339877, 20639878
PA166119041drug-induced liver injuryDiseaseClinicalAnnotation, VariantAnnotationambiguousPD25250564, 26959717, 27206238, 30664875
PA166120927drug reaction with eosinophilia and systemic symptomsDiseaseVariantAnnotationassociatedPD
PA166120929severe cutaneous adverse reactionsDiseaseClinicalAnnotation, VariantAnnotationassociatedPD19668019, 21545408, 24399721
PA166123368schizoaffective disorderDiseaseVariantAnnotationnot associatedPD2222133
PA166123566bucillamineChemicalVariantAnnotationassociatedPD
PA166151827adverse eventsDiseaseVariantAnnotationnot associatedPD30020991
PA166152829flupirtineChemicalClinicalAnnotation, VariantAnnotationassociatedPD26959717
PA443297AgranulocytosisDiseaseVariantAnnotationambiguousPD11146763, 11266078, 2222133, 27168101
PA443434Arthritis, RheumatoidDiseaseVariantAnnotationassociatedPD
PA443895Diabetic RetinopathyDiseaseMultilinkAnnotationassociated26807609
PA443936Drug HypersensitivityDiseaseClinicalAnnotation, VariantAnnotationambiguousPD21545408
PA443937Drug ToxicityDiseaseClinicalAnnotationassociatedPD
PA444059Epidermal Necrolysis, ToxicDiseaseClinicalAnnotation, VariantAnnotationambiguousPD21545408
PA444065EpilepsyDiseaseVariantAnnotationambiguousPD24399721, 30020991
PA444435HepatitisDiseaseVariantAnnotationassociatedPD10535882
PA444552HypertensionDiseaseLiterature, MultilinkAnnotationassociated24560520
PA444614InfectionDiseaseVariantAnnotationassociatedPD10535882
PA445042NarcolepsyDiseaseClinicalAnnotation, VariantAnnotationambiguousPD21102981, 22249484, 23486871, 25264897
PA445113NeutropeniaDiseaseVariantAnnotationnot associatedPD27168101
PA445431ProteinuriaDiseaseVariantAnnotationassociatedPD
PA445738Stevens-Johnson SyndromeDiseaseClinicalAnnotation, VariantAnnotationambiguousPD21545408
PA445941TuberculosisDiseaseVariantAnnotationambiguousPD12359646, 25250564
PA445999UrticariaDiseaseVariantAnnotationassociatedPD15784113, 19392989
PA447216SchizophreniaDiseaseVariantAnnotationambiguousPD11146763, 11266078, 2222133
PA447230HIVDiseaseVariantAnnotationassociatedPD
PA448015acetaminophenChemicalClinicalAnnotation, VariantAnnotationassociatedPD21545408
PA448320allopurinolChemicalClinicalAnnotation, VariantAnnotationambiguousPD21545408
PA448406amoxicillinChemicalClinicalAnnotation, VariantAnnotationassociatedPD10535882, 30664875
PA448497aspirinChemicalVariantAnnotationassociatedPD15784113, 19392989, 26366802
PA448785carbamazepineChemicalVariantAnnotationassociatedPD24399721
PA449061clozapineChemicalVariantAnnotationambiguousPD11146763, 11266078, 2222133, 27168101
PA450112isoniazidChemicalVariantAnnotationnot associatedPD
PA450164lamotrigineChemicalVariantAnnotationassociatedPD19668019
PA450206levetiracetamChemicalVariantAnnotationnot associatedPD30020991
PA450616nevirapineChemicalClinicalAnnotation, VariantAnnotationassociatedPD
PA451182pyrazinamideChemicalVariantAnnotationnot associatedPD
PA451250rifampinChemicalVariantAnnotationnot associatedPD
PA451686ticlopidineChemicalVariantAnnotationassociatedPD17339877

References

Pubmed IDYearTitleCitations
374068222024The protective association of HLA-B∗52:01, HLA-C∗12:02, and DQB1∗06:01 alleles with severe acute hepatitis of unknown origin in Japanese children.0
376520952024A Celiac Gene HLA-DQB1∗02:01 Is Associated with Linear IgA Bullous Dermatosis in the Chinese Population.0
376979312024The protective association of HLA-C*12:02 and HLA-DQB1*06:01 with severe acute hepatitis of unknown origin in the Japanese population.0
378841602024HLA-C*07:01 and HLA-DQB1*02:01 protect against white matter hyperintensities and deterioration of cognitive function: A population-based cohort study.1
385791892024Genome-Wide Association Study Identifies IFIH1 and HLA-DQB1*05:02 Loci Associated With Anti-NMDAR Encephalitis.1
387991182024HLA-DQB1 Allele Polymorphism Associated with Oral Submucous Fibrosis in Hunan, China.0
374068222024The protective association of HLA-B∗52:01, HLA-C∗12:02, and DQB1∗06:01 alleles with severe acute hepatitis of unknown origin in Japanese children.0
376520952024A Celiac Gene HLA-DQB1∗02:01 Is Associated with Linear IgA Bullous Dermatosis in the Chinese Population.0
376979312024The protective association of HLA-C*12:02 and HLA-DQB1*06:01 with severe acute hepatitis of unknown origin in the Japanese population.0
378841602024HLA-C*07:01 and HLA-DQB1*02:01 protect against white matter hyperintensities and deterioration of cognitive function: A population-based cohort study.1
385791892024Genome-Wide Association Study Identifies IFIH1 and HLA-DQB1*05:02 Loci Associated With Anti-NMDAR Encephalitis.1
387991182024HLA-DQB1 Allele Polymorphism Associated with Oral Submucous Fibrosis in Hunan, China.0
355236832023Role of HLA-DQB1 alleles in the risk, signs and symptoms, and severity of celiac disease in a Venezuelan population.0
364685712023DQA1*0102 DQB1*0602 haplotype distinguishes coeliac disease and its complications from gluten unrelated enteropathies.0
365926422023Association of HLADQ-B1 polymorphisms in three generations of chronic hepatitis B patients.3

Citation

Dessen P

HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43867