{"entity":{"id":"col2a1","kind":"target","name":"COL2A1","aka":["collagen type II alpha 1 chain","Collagen alpha-1(II) chain","STL1"],"tldr":"COL2A1 (Collagen alpha-1(II) chain) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Thyroid cancer and Papillary thyroid cancer.","summary":"Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Well-Differentiated Thyroid Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2200","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2200"},{"label":"UniProt P02458","url":"https://www.uniprot.org/uniprotkb/P02458/entry"},{"label":"NCBI Gene 1280","url":"https://www.ncbi.nlm.nih.gov/gene/1280"},{"label":"Ensembl ENSG00000139219","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139219"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["thyroid","papillary-thyroid-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"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: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" 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":"COL2A1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2200","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2200","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02458","url":"https://www.uniprot.org/uniprotkb/P02458/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen COL2A1","url":"https://www.intogen.org/search?gene=COL2A1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:2200","ensembl":"ENSG00000139219","uniprot":"P02458","entrez":"1280","biology":"Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 12q13.11 (HGNC).","whereFound":["Thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Papillary thyroid cancer: IntOGen driver in 1 cohort (WDTC)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/col2a1/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"papillary-thyroid-cancer","kind":"cancer","name":"Papillary thyroid cancer","route":"/cancers/papillary-thyroid-cancer/"},{"id":"thyroid","kind":"cancer","name":"Thyroid cancer","route":"/cancers/thyroid/"}]}}