HLA-DRB5 (major histocompatibility complex, class II, DR beta 5)

2010-06-01  

Identity

HGNC
LOCATION
6p21.32
LOCUSID
ALIAS
HLA-DRB5*
FUSION GENES

Other Information

Locus ID:

NCBI: 3127
MIM: 604776
HGNC: 4953
Ensembl: ENSG00000198502

Variants:

dbSNP: 3127
ClinVar: 3127
TCGA: ENSG00000198502
COSMIC: HLA-DRB5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198502ENST00000374975Q30154
ENSG00000198502ENST00000374975A0A2Z4LKS3

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

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
PA164742987clavulanateChemicalVariantAnnotationassociatedPD10535882
PA443297AgranulocytosisDiseaseVariantAnnotationassociatedPD11146763
PA444435HepatitisDiseaseVariantAnnotationassociatedPD10535882
PA444614InfectionDiseaseVariantAnnotationassociatedPD10535882
PA447216SchizophreniaDiseaseVariantAnnotationassociatedPD11146763
PA448406amoxicillinChemicalVariantAnnotationassociatedPD10535882
PA449061clozapineChemicalVariantAnnotationassociatedPD11146763

References

Pubmed IDYearTitleCitations
381047782024HLA DRB5∗01:01 is associated with pruritus in individuals with Fitzpatrick skin type IV-VI.0
381047782024HLA DRB5∗01:01 is associated with pruritus in individuals with Fitzpatrick skin type IV-VI.0
366587072023Whole Exome Sequencing Identified Two Single Nucleotide Polymorphisms of Human Leukocyte Antigen-DRB5 in Familial Sarcoidosis in China.0
376885292023Epigenome-wide methylation haplotype association analysis identified HLA-DRB1, HLA-DRB5 and HLA-DQB1 as risk factors for rheumatoid arthritis.2
366587072023Whole Exome Sequencing Identified Two Single Nucleotide Polymorphisms of Human Leukocyte Antigen-DRB5 in Familial Sarcoidosis in China.0
376885292023Epigenome-wide methylation haplotype association analysis identified HLA-DRB1, HLA-DRB5 and HLA-DQB1 as risk factors for rheumatoid arthritis.2
318823982020Increased HLA-DR expression and cortical demyelination in MS links with HLA-DR15.14
318823982020Increased HLA-DR expression and cortical demyelination in MS links with HLA-DR15.14
306796052019Interactions of HLA-DR and Topoisomerase I Epitope Modulated Genetic Risk for Systemic Sclerosis.5
316242342019Chromatin profiling of cortical neurons identifies individual epigenetic signatures in schizophrenia.12
306796052019Interactions of HLA-DR and Topoisomerase I Epitope Modulated Genetic Risk for Systemic Sclerosis.5
316242342019Chromatin profiling of cortical neurons identifies individual epigenetic signatures in schizophrenia.12
277130942017Genetic variation associated with the occurrence and progression of neurological disorders.7
281311682017HLA-DRA/HLA-DRB5 polymorphism affects risk of sporadic ALS and survival in a southwest Chinese cohort.5
277130942017Genetic variation associated with the occurrence and progression of neurological disorders.7

Citation

Dessen P

HLA-DRB5 (major histocompatibility complex, class II, DR beta 5)

Atlas Genet Cytogenet Oncol Haematol. 2010-06-01

Online version: http://atlasgeneticsoncology.org/gene/51522/hla-drb5