{"entity":{"id":"tgfbr1","kind":"target","name":"TGFBR1","aka":["transforming growth factor beta receptor 1","TGF-beta receptor type-1","ALK-5","ACVRLK4","ALK5","TBR-i","ESS1"],"tldr":"TGFBR1 (TGF-beta receptor type-1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a tumour suppressor, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Oesophageal cancer and Oesophageal and junctional adenocarcinoma.","summary":"Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and haematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes clinical 0.38, affected pathway 0.87, literature 0.98, genetic association 0.26, somatic mutation 0.44, animal model 0.40). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Oesophageal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11772","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11772"},{"label":"UniProt P36897","url":"https://www.uniprot.org/uniprotkb/P36897/entry"},{"label":"NCBI Gene 7046","url":"https://www.ncbi.nlm.nih.gov/gene/7046"},{"label":"Ensembl ENSG00000106799","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106799"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["esophageal","oesophageal-adenocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["tgf-beta"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.38; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TGFBR1","role":["drug-target","tumour-suppressor"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11772","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11772","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P36897","url":"https://www.uniprot.org/uniprotkb/P36897/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000106799","url":"https://platform.opentargets.org/target/ENSG00000106799/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"},{"label":"IntOGen TGFBR1","url":"https://www.intogen.org/search?gene=TGFBR1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:11772","ensembl":"ENSG00000106799","uniprot":"P36897","entrez":"7046","biology":"Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and haematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signalling cascade. Location: Cell membrane; Cell junction, tight junction; Cell surface; Membrane raft (UniProt). Locus 9q22.33 (HGNC).","whereFound":["Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)"],"targetClass":"kinase","prevalence":[]},"route":"/targets/tgfbr1/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"oesophageal-adenocarcinoma","kind":"cancer","name":"Oesophageal and junctional adenocarcinoma","route":"/cancers/oesophageal-adenocarcinoma/"},{"id":"esophageal","kind":"cancer","name":"Oesophageal cancer","route":"/cancers/esophageal/"}],"pathway":[{"id":"tgf-beta","kind":"pathway","name":"TGF-β signalling","route":"/pathways/tgf-beta/"}]}}