{"entity":{"id":"col6a3","kind":"target","name":"COL6A3","aka":["collagen type VI alpha 3 chain","Collagen alpha-3(VI) chain"],"tldr":"COL6A3 (Collagen alpha-3(VI) chain) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target and a tumour suppressor, and an approved or late-stage drug is recorded against it. Tied to Melanoma.","summary":"Collagen VI acts as a cell-binding protein.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Melanoma. In OnCo, 1 product record names it (Vimseltinib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2213","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2213"},{"label":"UniProt P12111","url":"https://www.uniprot.org/uniprotkb/P12111/entry"},{"label":"NCBI Gene 1293","url":"https://www.ncbi.nlm.nih.gov/gene/1293"},{"label":"Ensembl ENSG00000163359","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163359"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["vimseltinib"],"companies":[],"institutions":[],"pathways":[],"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: 1 OnCo product record names it; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"approved-drug\" 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":"COL6A3","role":["drug-target","tumour-suppressor"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:2213","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2213","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P12111","url":"https://www.uniprot.org/uniprotkb/P12111/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen COL6A3","url":"https://www.intogen.org/search?gene=COL6A3","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal smooth muscle, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA COL6A3: RNA tissue enhanced (smooth muscle 392 nTPM); no normal tissue stained high; highest cancer staining urothelial cancer (1 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (Dupuytren Contracture). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas COL6A3 tissue","url":"https://www.proteinatlas.org/ENSG00000163359-COL6A3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas COL6A3 pathology","url":"https://www.proteinatlas.org/ENSG00000163359-COL6A3/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163359 associations","url":"https://platform.opentargets.org/target/ENSG00000163359/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2213","ensembl":"ENSG00000163359","uniprot":"P12111","entrez":"1293","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chu M.-L. et al, Eur. J. Biochem, 1987, \"Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3665927/","biology":"Collagen VI acts as a cell-binding protein. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 2q37.3 (HGNC).","whereFound":["Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/col6a3/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"}],"drug":[{"id":"vimseltinib","kind":"drug","name":"Vimseltinib","route":"/drugs/vimseltinib/"}]}}