HLA-DRB3 (major histocompatibility complex, class II, DR beta 3)

2008-07-01  

Identity

HGNC
LOCATION
6p21.3
LOCUSID
ALIAS
DRB3,HLA-DPB1,HLA-DR1B,HLA-DR3B,HLA-DRB3*

Other Information

Locus ID:

NCBI: 3125
MIM: 612735
HGNC: 4951

Variants:

dbSNP: 3125
ClinVar: 3125
COSMIC: HLA-DRB3

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443297AgranulocytosisDiseaseVariantAnnotationassociatedPD11266078
PA447216SchizophreniaDiseaseClinicalAnnotation, VariantAnnotationassociatedPD11266078
PA447264heparin-induced thrombocytopeniaDiseaseClinicalAnnotation, VariantAnnotationassociatedPD28688202
PA449061clozapineChemicalClinicalAnnotation, VariantAnnotationassociatedPD11266078
PA449855heparinChemicalClinicalAnnotation, VariantAnnotationassociatedPD28688202

References

Pubmed IDYearTitleCitations
249885562014Risk of pediatric celiac disease according to HLA haplotype and country.83
145087062003HLA-DRB1*1101: a significant risk factor for sarcoidosis in blacks and whites.72
163203162005Regulation of anti-cyclic citrullinated peptide antibodies in rheumatoid arthritis: contrasting effects of HLA-DR3 and the shared epitope alleles.54
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
169166622006Association of HLA-DR, -DQ, and vitamin D receptor alleles and haplotypes with tuberculosis in the Venda of South Africa.40
235960452013Multiple mismatches at the low expression HLA loci DP, DQ, and DRB3/4/5 associate with adverse outcomes in hematopoietic stem cell transplantation.38
162006102005Association of HLA-DR3 with anti-cyclic citrullinated peptide antibody-negative rheumatoid arthritis.35
224337152012Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes.30
177634152007HLA-DRB4 as a genetic risk factor for Churg-Strauss syndrome.25
110273442000Genetic susceptibility to breast cancer: HLA DQB*03032 and HLA DRB1*11 may represent protective alleles.21

Citation

Dessen P

HLA-DRB3 (major histocompatibility complex, class II, DR beta 3)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50186/hla-drb3