TRB (T cell receptor beta locus)

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Gene Gene information from NCBI Gene database.
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Entrez ID 6957
Gene name T cell receptor beta locus
Gene symbol TRB
Synonyms (NCBI Gene)
TCRBTRB@
Chromosome 7
Chromosome location 7q34
Summary T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
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Transcription factor Regulation Reference
ETS1 Repression 1409722
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10 Show/Hide all (10)
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GO ID Ontology Definition Evidence Reference
GO:0002355 Process Detection of tumor cell IDA 31959982
GO:0002376 Process Immune system process IEA
GO:0002419 Process T cell mediated cytotoxicity directed against tumor cell target IDA 31959982
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC 12155 N/A
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DSE2
Protein name M1-specific T cell receptor beta chain (TR beta chain TRBV19*01J2S7*01C*02)
Protein function The beta chain of TRAV27*01J42*01C*01/TRBV19*01J2S7*01C*02 alpha-beta T cell receptor (TR) clonotype that is specific for HLA-A*02:01-restricted M/matrix protein 1 immunodominant epitope GILGFVFTL of influenza A virus (IAV). Classified as a publ
PDB 1OGA , 2VLJ , 2VLK , 2VLR , 5HHM , 5HHO , 6JXR , 7FJD , 7FJE , 7FJF
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in M/matrix protein 1-specific effector memory CD8-positive T cells readily detectable in the peripheral blood, secondary lymphoid organs and lung (primary site of infection) of IAV infected individuals. {ECO:0000269|PubMed:2
Sequence 
MSNQVLCCVVLCLLGANTVDGGITQSPKYLFRKEGQNVTLSCEQNLNHDAMYWYRQDPGQ
GLRLIYYSQIVNDFQKGDIAEGYSVSREKKESFPLTVTSAQKNPTAFYLCASSIRSSYEQ
YFGPGTRLTVTEDLKNVFPPKVAVFEPSEAEISHTQKATLVCLATGFYPDHVELSWWVNG
KEVHSGVSTDPQPLKEQPALNDSRYCLSSRLRVSATFWQNPRNHFRCQVQFYGLSENDEW
TQDRAKPVTQIVSAEAWGRADCGFTSESYQQGVLSATILYEILLGKATLYAVLVSALVLM
AMVKRKDSRG
Sequence length 310
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DTU4
Protein name T cell receptor beta chain MC.7.G5 (TR beta chain TRBV25-1*01J2S3*01C2*01) (MC.7.G5 TRB)
Protein function The beta chain of TRAV38-2DV8*01J31*01C*01/TRBV25-1*01J2S3*01C2*01 alpha-beta T cell receptor (TR) clonotype that displays pan-cancer cell recognition via the invariant MR1 molecule. On CD8-positive T cell clone MC.7.G5, likely recognizes tumor-
PDB 8T4Z , 8TW4 , 8Y6X , 8YIV , 8YJ2 , 8YJ3 , 9C3E
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in MR1-restricted CD8-positive T cells. {ECO:0000269|PubMed:31959982}.
Sequence 
MTIRLLCYMGFYFLGAGLMEADIYQTPRYLVIGTGKKITLECSQTMGHDKMYWYQQDPGM
ELHLIHYSYGVNSTEKGDLSSESTVSRIRTEHFPLTLESARPSHTSQYLCASSEARGLAE
FTDTQYFGPGTRLTVLEDLKNVFPPEVAVFEPSEAEISHTQKATLVCLATGFYPDHVELS
WWVNGKEVHSGVSTDPQPLKEQPALNDSRYCLSSRLRVSATFWQNPRNHFRCQVQFYGLS
ENDEWTQDRAKPVTQIVSAEAWGRADCGFTSESYQQGVLSATILYEILLGKATLYAVLVS
ALVLMAMVKRKDSRG
Sequence length 315
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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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)
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 Reference Evidence Score
KERATOCONUS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PANCREATIC TRYPSINOGEN DEFICIENCY — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VITAMIN D-DEPENDENT RICKETS, TYPE 2A — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRSS1 2 shared diseasesPancreatic trypsinogen deficiency, Vitamin d dependent rickets 2 shared evidence sourcesDisgenet (Pancreatic trypsinogen deficiency), Disgenet (Vitamin d dependent rickets) Related via 2 shared diseases including Pancreatic trypsinogen deficiency, Vitamin d dependent rickets — evidence mostly Disgenet.
Hereditary chronic pancreatitis Linked via 1 of 1 related genePRSS1 Pancreatitis Linked via 1 of 1 related genePRSS1 Cystic fibrosis Linked via 1 of 1 related genePRSS1 Pancreatic neoplasms Linked via 1 of 1 related genePRSS1 Sarcoidosis Linked via 1 of 1 related genePRSS1