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

2010-06-01 Affiliation

Identity

HGNC

HLA-DRB5

LOCATION

6p21.32

LOCUSID

3127

ALIAS

HLA-DRB5*

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

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 ID	Transcript ID	Uniprot
ENSG00000198502	ENST00000374975	Q30154
ENSG00000198502	ENST00000374975	A0A2Z4LKS3

Expression (GTEx)

100

150

200

250

300

350

400

450

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

Pathway	Source	External ID
Cell adhesion molecules (CAMs)	KEGG	ko04514
Antigen processing and presentation	KEGG	ko04612
Hematopoietic cell lineage	KEGG	ko04640
Type I diabetes mellitus	KEGG	ko04940
Asthma	KEGG	ko05310
Autoimmune thyroid disease	KEGG	ko05320
Systemic lupus erythematosus	KEGG	ko05322
Allograft rejection	KEGG	ko05330
Graft-versus-host disease	KEGG	ko05332
Cell adhesion molecules (CAMs)	KEGG	hsa04514
Antigen processing and presentation	KEGG	hsa04612
Hematopoietic cell lineage	KEGG	hsa04640
Type I diabetes mellitus	KEGG	hsa04940
Asthma	KEGG	hsa05310
Autoimmune thyroid disease	KEGG	hsa05320
Systemic lupus erythematosus	KEGG	hsa05322
Allograft rejection	KEGG	hsa05330
Graft-versus-host disease	KEGG	hsa05332
Viral myocarditis	KEGG	hsa05416
Intestinal immune network for IgA production	KEGG	ko04672
Intestinal immune network for IgA production	KEGG	hsa04672
Leishmaniasis	KEGG	ko05140
Leishmaniasis	KEGG	hsa05140
Phagosome	KEGG	ko04145
Phagosome	KEGG	hsa04145
Toxoplasmosis	KEGG	ko05145
Toxoplasmosis	KEGG	hsa05145
Staphylococcus aureus infection	KEGG	ko05150
Staphylococcus aureus infection	KEGG	hsa05150
Rheumatoid arthritis	KEGG	ko05323
Rheumatoid arthritis	KEGG	hsa05323
Tuberculosis	KEGG	ko05152
Tuberculosis	KEGG	hsa05152
Influenza A	KEGG	ko05164
Influenza A	KEGG	hsa05164
HTLV-I infection	KEGG	ko05166
HTLV-I infection	KEGG	hsa05166
Herpes simplex infection	KEGG	ko05168
Herpes simplex infection	KEGG	hsa05168
Epstein-Barr virus infection	KEGG	hsa05169
Epstein-Barr virus infection	KEGG	ko05169
Inflammatory bowel disease (IBD)	KEGG	hsa05321
Inflammatory bowel disease (IBD)	KEGG	ko05321
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
TCR signaling	REACTOME	R-HSA-202403
Phosphorylation of CD3 and TCR zeta chains	REACTOME	R-HSA-202427
Translocation of ZAP-70 to Immunological synapse	REACTOME	R-HSA-202430
Generation of second messenger molecules	REACTOME	R-HSA-202433
Downstream TCR signaling	REACTOME	R-HSA-202424
Costimulation by the CD28 family	REACTOME	R-HSA-388841
PD-1 signaling	REACTOME	R-HSA-389948
MHC class II antigen presentation	REACTOME	R-HSA-2132295
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Interferon Signaling	REACTOME	R-HSA-913531
Interferon gamma signaling	REACTOME	R-HSA-877300
Th1 and Th2 cell differentiation	KEGG	ko04658
Th1 and Th2 cell differentiation	KEGG	hsa04658
Th17 cell differentiation	KEGG	ko04659
Th17 cell differentiation	KEGG	hsa04659

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA164742987	clavulanate	Chemical	VariantAnnotation	associated	PD	10535882
PA443297	Agranulocytosis	Disease	VariantAnnotation	associated	PD	11146763
PA444435	Hepatitis	Disease	VariantAnnotation	associated	PD	10535882
PA444614	Infection	Disease	VariantAnnotation	associated	PD	10535882
PA447216	Schizophrenia	Disease	VariantAnnotation	associated	PD	11146763
PA448406	amoxicillin	Chemical	VariantAnnotation	associated	PD	10535882
PA449061	clozapine	Chemical	VariantAnnotation	associated	PD	11146763

References

Pubmed ID	Year	Title	Citations
20639878	2010	A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury.	97
25365775	2015	Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease.	81
14508706	2003	HLA-DRB1*1101: a significant risk factor for sarcoidosis in blacks and whites.	72
27088644	2016	Association Between Genetic Traits for Immune-Mediated Diseases and Alzheimer Disease.	46
11034591	2000	Co-amoxiclav jaundice: clinical and histological features and HLA class II association.	42
16916662	2006	Association of HLA-DR, -DQ, and vitamin D receptor alleles and haplotypes with tuberculosis in the Venda of South Africa.	40
19380721	2009	Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility.	40
18832704	2008	Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis.	31
18832704	2008	Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis.	31
18520346	2008	Associations of human leukocyte antigen DRB with resistance or susceptibility to HIV-1 infection in the Pumwani Sex Worker Cohort.	19

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