{"entity":{"id":"eln","kind":"target","name":"ELN","aka":["elastin","Elastin"],"tldr":"ELN (Elastin) 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 Breast cancer and Cutaneous squamous cell carcinoma.","summary":"Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilising arterial structure by regulating proliferation and organisation of vascular smooth muscle.\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Cutaneous Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3327","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3327"},{"label":"UniProt P15502","url":"https://www.uniprot.org/uniprotkb/P15502/entry"},{"label":"NCBI Gene 2006","url":"https://www.ncbi.nlm.nih.gov/gene/2006"},{"label":"Ensembl ENSG00000049540","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000049540"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer","cutaneous-scc"],"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 2 cohorts. 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":"ELN","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3327","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3327","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15502","url":"https://www.uniprot.org/uniprotkb/P15502/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ELN","url":"https://www.intogen.org/search?gene=ELN","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:3327","ensembl":"ENSG00000049540","uniprot":"P15502","entrez":"2006","biology":"Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilising arterial structure by regulating proliferation and organisation of vascular smooth muscle. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 7q11.23 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)","Cutaneous squamous cell carcinoma: IntOGen driver in 1 cohort (CSCC)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/eln/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"cutaneous-scc","kind":"cancer","name":"Cutaneous squamous cell carcinoma","route":"/cancers/cutaneous-scc/"}]}}