Gene Gene information from NCBI Gene database.
Entrez ID 3127
Gene name Major histocompatibility complex, class II, DR beta 5
Gene symbol HLA-DRB5
Synonyms (NCBI Gene)
DRB5HLA-DRB5*
Chromosome 6
Chromosome location 6p21.32
Summary HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides der
miRNA miRNA information provided by mirtarbase database.
122
miRTarBase ID miRNA Experiments Reference
MIRT018565 hsa-miR-335-5p Microarray 18185580
MIRT717246 hsa-miR-1250-3p HITS-CLIP 19536157
MIRT717245 hsa-miR-136-5p HITS-CLIP 19536157
MIRT717244 hsa-miR-589-5p HITS-CLIP 19536157
MIRT717243 hsa-miR-4434 HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
CIITA Unknown 10886240
RFX5 Unknown 11258423
RFXANK Unknown 11258423
RFXAP Unknown 11258423
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0002503 Process Peptide antigen assembly with MHC class II protein complex IBA
GO:0002504 Process Antigen processing and presentation of peptide or polysaccharide antigen via MHC class II IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604776 4953 ENSG00000198502
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q30154
Protein name HLA class II histocompatibility antigen, DR beta 5 chain (DR beta-5) (DR2-beta-2) (Dw2) (MHC class II antigen DRB5)
Protein function Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. T
PDB 1FV1 , 1H15 , 1HQR , 1ZGL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00969 MHC_II_beta 42 116 Class II histocompatibility antigen, beta domain Domain
PF07654 C1-set 128 209 Immunoglobulin C1-set domain Domain
Sequence
MVCLKLPGGSYMAKLTVTLMVLSSPLALAGDTRPRFLQQDKYECHFFNGTERVRFLHRDI
YNQEEDLRFDSDVGEYRAVTELGRPDAEYWNSQKDFLEDRRAAVDTYCRHNYGVGE
SFTV
QRRVEPKVTVYPARTQTLQHHNLLVCSVNGFYPGSIEVRWFRNSQEEKAGVVSTGLIQNG
DWTFQTLVMLETVPRSGEVYTCQVEHPSV
TSPLTVEWRAQSESAQSKMLSGVGGFVLGLL
FLGAGLFIYFKNQKGHSGLHPTGLVS
Sequence length 266
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Phagosome
Cell adhesion molecules
Antigen processing and presentation
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
Intestinal immune network for IgA production
Type I diabetes mellitus
Leishmaniasis
Toxoplasmosis
Staphylococcus aureus infection
Tuberculosis
Influenza A
Human T-cell leukemia virus 1 infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Asthma
Autoimmune thyroid disease
Inflammatory bowel disease
Systemic lupus erythematosus
Rheumatoid arthritis
Allograft rejection
Graft-versus-host disease
Viral myocarditis
  Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
MHC class II antigen presentation
PD-1 signaling
Interferon gamma signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs201699945, rs200591586 RCV005891014
RCV005891018
Familial pancreatic carcinoma Benign rs201699945 RCV005891013
Hepatocellular carcinoma Benign rs201699945, rs200591586 RCV005891010
RCV005891015
Lymphoma Benign rs200591586 RCV005891017