Gene Gene information from NCBI Gene database.
Entrez ID 3123
Gene name Major histocompatibility complex, class II, DR beta 1
Gene symbol HLA-DRB1
Synonyms (NCBI Gene)
DRB1HLA-DR1BHLA-DRBSS1
Chromosome 6
Chromosome location 6p21.32
Summary HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derive
miRNA miRNA information provided by mirtarbase database.
42
miRTarBase ID miRNA Experiments Reference
MIRT646417 hsa-miR-5692a HITS-CLIP 23824327
MIRT646416 hsa-miR-141-5p HITS-CLIP 23824327
MIRT646415 hsa-miR-1250-3p HITS-CLIP 23824327
MIRT646414 hsa-miR-153-5p HITS-CLIP 23824327
MIRT646413 hsa-miR-6832-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
CIITA Unknown 10886240
ILF3 Unknown 7651394
RFX5 Unknown 11258423;18723135
RFXANK Unknown 11258423
RFXAP Unknown 11258423;18723135
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
96
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001772 Component Immunological synapse IDA 15322540, 29884618
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IDA 29884618
GO:0001934 Process Positive regulation of protein phosphorylation IDA 24942581
GO:0002250 Process Adaptive immune response IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142857 4948 ENSG00000196126
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01911
Protein name HLA class II histocompatibility antigen, DRB1 beta chain (Human leukocyte antigen DRB1) (HLA-DRB1)
Protein function A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T c
PDB 1A6A , 1AQD , 1BX2 , 1D5M , 1D5X , 1D5Z , 1D6E , 1DLH , 1FYT , 1HXY , 1J8H , 1JWM , 1JWS , 1JWU , 1KG0 , 1KLG , 1KLU , 1LO5 , 1PYW , 1R5I , 1SEB , 1SJE , 1SJH , 1T5W , 1T5X , 1YMM , 2FSE , 2G9H , 2IAM , 2IAN , 2ICW , 2IPK , 2OJE , 2SEB , 2WBJ , 2XN9 , 3L6F , 3O6F , 3PDO , 3PGC , 3PGD , 3QXA , 3QXD , 3S4S , 3S5L , 3T0E , 4AEN , 4AH2 , 4C56 , 4E41 , 4FQX
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
Tissue specificity TISSUE SPECIFICITY: Expressed in professional APCs: monocyte/macrophages, dendritic cells and B cells (at protein level) (PubMed:19830726, PubMed:23783831, PubMed:31495665). Expressed in thymic epithelial cells (at protein level) (PubMed:23783831). {ECO:0
Sequence
MVCLKLPGGSCMTALTVTLMVLSSPLALSGDTRPRFLWQPKRECHFFNGTERVRFLDRYF
YNQEESVRFDSDVGEFRAVTELGRPDAEYWNSQKDILEQARAAVDTYCRHNYGVVE
SFTV
QRRVQPKVTVYPSKTQPLQHHNLLVCSVSGFYPGSIEVRWFLNGQEEKAGMVSTGLIQNG
DWTFQTLVMLETVPRSGEVYTCQVEHPSV
TSPLTVEWRARSESAQSKMLSGVGGFVLGLL
FLGAGLFIYFRNQKGHSGLQPTGFLS
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
217
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Multiple sclerosis, susceptibility to Likely pathogenic rs756519999 RCV003990402
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary artery atresia Pathogenic rs780784592 RCV002512187
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
AA amyloidosis AA amyloidosis BEFREE 17086601
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 17212707, 26679868, 28982023
★☆☆☆☆
Found in Text Mining only
Acute Inflammatory Demyelinating Polyneuropathy Inflammatory Demyelinating Polyneuropathy BEFREE 9396707
★☆☆☆☆
Found in Text Mining only
Acute intermittent porphyria Intermittent Porphyria BEFREE 17119950, 18341485, 20303356
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 20051322, 21820609, 27811020, 29296709
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18164964, 21067287, 21309500, 21820609, 26456260, 26544669, 28596278
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 16890892
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease BEFREE 10523017, 12392510, 18057383, 19820007, 19858318, 20857845, 24187405, 25040682, 30968193, 31675055, 7860358, 9920103
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 15585555
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 7488132
★☆☆☆☆
Found in Text Mining only