HLA-DRB1 (major histocompatibility complex, class II, DR beta 1)

2007-02-01  

Identity

HGNC
HLA-DRB1
LOCATION
6p21.32
LOCUSID
3123
ALIAS
DRB1,HLA-DR1B,HLA-DRB,SS1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3123
MIM: 142857
HGNC: 4948
Ensembl: ENSG00000196126

Variants:

dbSNP: 3123
ClinVar: 3123
TCGA: ENSG00000196126
COSMIC: HLA-DRB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196126ENST00000360004P04229
ENSG00000196126ENST00000360004Q9GIY3
ENSG00000196126ENST00000360004P01911
ENSG00000196126ENST00000360004Q29974
ENSG00000196126ENST00000360004D7RIH8
ENSG00000196126ENST00000360004X5DNQ0

Expression (GTEx)

0
500
1000
1500
2000
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
PA10004adalimumabChemicalVariantAnnotationassociatedPD
PA131285571aspirin-induced asthmaDiseaseVariantAnnotationnot associatedPD15007363, 9179433
PA133950441hmg coa reductase inhibitorsChemicalClinicalAnnotation, VariantAnnotationassociatedPD27839692
PA134308647rosuvastatinChemicalClinicalAnnotation, VariantAnnotationassociatedPD27839692
PA142650384pitavastatinChemicalVariantAnnotationassociatedPD27839692
PA152241907lapatinibChemicalClinicalAnnotation, LabelAnnotation, VariantAnnotationassociatedPD24687830, 28786423
PA162316739Maculopapular ExanthemaDiseaseClinicalAnnotation, VariantAnnotationassociatedPD23830818, 27666425
PA164712462Antiinflammatory agents, non-steroidsChemicalClinicalAnnotation, VariantAnnotationassociatedPD10200020
PA164712830Influenza vaccinesChemicalVariantAnnotationassociatedPD11756990
PA164713366Tumor necrosis factor alpha (TNF-alpha) inhibitorsChemicalVariantAnnotationassociatedPD
PA164742970carbimazoleChemicalVariantAnnotationassociatedPD
PA164742987clavulanateChemicalVariantAnnotationassociatedPD10535882, 20800921, 30664875
PA164769031lumiracoxibChemicalVariantAnnotationassociatedPD20639878
PA164781042flucloxacillinChemicalVariantAnnotationassociatedPD30664875
PA164925725Toxic liver diseaseDiseaseClinicalAnnotation, VariantAnnotationambiguousPD17339877, 20639878, 24687830, 25714001, 28786423
PA165951292HLA-DQA1*02:01HaplotypeLabelAnnotationassociated
PA165951644HLA-DRB1*07:01:01:01HaplotypeLabelAnnotationassociated
PA166114911dabrafenibChemicalVariantAnnotationassociatedPD27023328
PA166119041drug-induced liver injuryDiseaseClinicalAnnotation, VariantAnnotationambiguousPD20800921, 26959717, 27206238, 30664875
PA166120926dress syndromeDiseaseVariantAnnotationassociatedPD
PA166120927drug reaction with eosinophilia and systemic symptomsDiseaseClinicalAnnotationassociatedPD23328091, 28819312
PA166120929severe cutaneous adverse reactionsDiseaseClinicalAnnotation, VariantAnnotationassociatedPD19668019, 21545408, 24399721
PA166123368schizoaffective disorderDiseaseVariantAnnotationnot associatedPD2222133
PA166123554anaphylactoid reactionDiseaseClinicalAnnotation, VariantAnnotationassociatedPD10200020
PA166123566bucillamineChemicalVariantAnnotationassociatedPD
PA166151827adverse eventsDiseaseVariantAnnotationnot associatedPD30020991
PA166152829flupirtineChemicalClinicalAnnotation, VariantAnnotationassociatedPD26959717
PA443297AgranulocytosisDiseaseVariantAnnotationambiguousPD11266078, 2222133
PA443434Arthritis, RheumatoidDiseaseMultilinkAnnotation, VariantAnnotationassociatedPD25919528, 25979711
PA443560Breast NeoplasmsDiseaseVariantAnnotationambiguousPD24687830, 28786423
PA443936Drug HypersensitivityDiseaseClinicalAnnotation, VariantAnnotationambiguousPD15627041, 21545408, 21902584, 24858023, 24911354, 29233746
PA443937Drug ToxicityDiseaseClinicalAnnotation, VariantAnnotationassociatedPD25217962
PA444059Epidermal Necrolysis, ToxicDiseaseClinicalAnnotation, VariantAnnotationambiguousPD21545408, 23328091, 28819312
PA444065EpilepsyDiseaseClinicalAnnotation, VariantAnnotationambiguousPD20235791, 24399721, 27666425, 30020991
PA444109ExanthemaDiseaseVariantAnnotationambiguousPD18301070, 19104471
PA444178FeverDiseaseVariantAnnotationassociatedPD27023328
PA444329Graves DiseaseDiseaseVariantAnnotationassociatedPD
PA444435HepatitisDiseaseVariantAnnotationassociatedPD10535882
PA444546HypersensitivityDiseaseLiterature, VariantAnnotationassociatedPD24970932, 25714001
PA444614InfectionDiseaseVariantAnnotationassociatedPD10535882
PA444648JaundiceDiseaseVariantAnnotationassociatedPD
PA444903MelanomaDiseaseVariantAnnotationassociatedPD27023328
PA444987Multiple SclerosisDiseaseClinicalAnnotation, VariantAnnotationassociatedPD22111603, 27020477
PA444997Muscular DiseasesDiseaseVariantAnnotationassociatedPD27839692
PA445220PancreatitisDiseaseClinicalAnnotation, VariantAnnotationassociatedPD25217962
PA445431ProteinuriaDiseaseVariantAnnotationassociatedPD
PA445738Stevens-Johnson SyndromeDiseaseClinicalAnnotation, VariantAnnotationambiguousPD21545408, 23328091, 24236482, 28819312
PA445999UrticariaDiseaseVariantAnnotationassociatedPD15784113, 19392989
PA446116Inflammatory Bowel DiseasesDiseaseClinicalAnnotation, VariantAnnotationassociatedPD25217962
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotation, VariantAnnotationassociatedPD25987655
PA446827Hematologic NeoplasmsDiseaseVariantAnnotationassociatedPD24858023
PA447216SchizophreniaDiseaseVariantAnnotationambiguousPD11266078, 2222133
PA447230HIVDiseaseVariantAnnotationambiguousPD15627041, 18301070, 19104471, 21902584, 24911354
PA448015acetaminophenChemicalVariantAnnotationnot associatedPD21545408
PA448320allopurinolChemicalClinicalAnnotation, VariantAnnotationambiguousPD21545408, 24858023
PA448406amoxicillinChemicalVariantAnnotationassociatedPD10535882, 20800921, 30664875
PA448492asparaginaseChemicalClinicalAnnotation, MultilinkAnnotation, VariantAnnotationassociatedPD24970932, 25987655
PA448497aspirinChemicalVariantAnnotationassociatedPD15784113, 19392989
PA448500atorvastatinChemicalClinicalAnnotation, VariantAnnotationassociatedPD27839692
PA448515azathioprineChemicalClinicalAnnotation, VariantAnnotationassociatedPD25217962
PA448785carbamazepineChemicalClinicalAnnotation, VariantAnnotationassociatedPD23830818, 24399721
PA449061clozapineChemicalVariantAnnotationambiguousPD11266078, 2222133
PA449211dapsoneChemicalClinicalAnnotation, VariantAnnotationassociatedPD29233746
PA449441efavirenzChemicalVariantAnnotationassociatedPD18301070
PA449515etanerceptChemicalVariantAnnotationassociatedPD
PA449688fluvastatinChemicalClinicalAnnotation, VariantAnnotationassociatedPD27839692
PA449760glatiramer acetateChemicalVariantAnnotationassociatedPD22111603
PA450037interferon beta-1aChemicalClinicalAnnotation, VariantAnnotationassociatedPD27020477
PA450164lamotrigineChemicalVariantAnnotationassociatedPD19668019
PA450206levetiracetamChemicalVariantAnnotationnot associatedPD30020991
PA450379mercaptopurineChemicalClinicalAnnotation, VariantAnnotationassociatedPD25217962
PA450422methimazoleChemicalVariantAnnotationassociatedPD
PA450616nevirapineChemicalClinicalAnnotation, VariantAnnotationambiguousPD15627041, 18301070, 19104471, 21505298, 21902584, 23328091, 24911354, 25714001, 28819312
PA450732oxcarbazepineChemicalClinicalAnnotation, VariantAnnotationassociatedPD27666425
PA450911phenobarbitalChemicalVariantAnnotationnot associatedPD24236482
PA450947phenytoinChemicalVariantAnnotationambiguousPD20235791
PA451089pravastatinChemicalClinicalAnnotation, VariantAnnotationassociatedPD27839692
PA451156propylthiouracilChemicalVariantAnnotationassociatedPD
PA451363simvastatinChemicalClinicalAnnotation, VariantAnnotationassociatedPD27839692
PA451686ticlopidineChemicalVariantAnnotationassociatedPD17339877
PA451743trastuzumabChemicalVariantAnnotationnot associatedPD28786423
PA451978zonisamideChemicalVariantAnnotationnot associatedPD24236482
PA452639infliximabChemicalVariantAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
377511152024Polymorphic Analysis of Genes PADI4 (rs2240340, rs1748033) and HLA-DRB1 (rs2395175) in Arthritis Patients in Pakistani Population.0
380434872024High-resolution HLA genotyping in inclusion body myositis refines 8.1 ancestral haplotype association to DRB1*03:01:01 and highlights pathogenic role of arginine-74 of DRβ1 chain.1
381506492024HLA-DRB1*15:01 and the MERTK Gene Interact to Selectively Influence the Profile of MERTK-Expressing Monocytes in Both Health and MS.0
382535972024Human leucocyte antigens and Japanese patients with polymyalgia rheumatica: the protective effect of DRB1*09:01.0
382854792024Chronic HIV-1 Tat action induces HLA-DR downregulation in B cells: A mechanism for lymphoma immune escape in people living with HIV.0
385403982024Investigating Associations between HLA-DR Genotype, H. pylori Infection, and Anti-CagA IgA Seropositivity in a Turkish Gastritis Cohort.0
385968872024Impact of human leucocyte antigen class II polymorphism on anti-red blood cell antibody development: Correlations and indications.0
389509682024The Impact of Rheumatoid Arthritis on First Nations and How We Can Work With Communities to Prevent It.0
377511152024Polymorphic Analysis of Genes PADI4 (rs2240340, rs1748033) and HLA-DRB1 (rs2395175) in Arthritis Patients in Pakistani Population.0
380434872024High-resolution HLA genotyping in inclusion body myositis refines 8.1 ancestral haplotype association to DRB1*03:01:01 and highlights pathogenic role of arginine-74 of DRβ1 chain.1
381506492024HLA-DRB1*15:01 and the MERTK Gene Interact to Selectively Influence the Profile of MERTK-Expressing Monocytes in Both Health and MS.0
382535972024Human leucocyte antigens and Japanese patients with polymyalgia rheumatica: the protective effect of DRB1*09:01.0
382854792024Chronic HIV-1 Tat action induces HLA-DR downregulation in B cells: A mechanism for lymphoma immune escape in people living with HIV.0
385403982024Investigating Associations between HLA-DR Genotype, H. pylori Infection, and Anti-CagA IgA Seropositivity in a Turkish Gastritis Cohort.0
385968872024Impact of human leucocyte antigen class II polymorphism on anti-red blood cell antibody development: Correlations and indications.0

Citation

Dessen P

HLA-DRB1 (major histocompatibility complex, class II, DR beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43946