{"entity":{"id":"fanca","kind":"target","name":"FANCA","aka":["FA complementation group A","Fanconi anemia group A protein","FA-H","FANCH"],"tldr":"FANCA (Fanconi anaemia group A protein) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Skin cancer, Ovarian cancer and 5 more.","summary":"DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Cisplatin. Open Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes genetic literature 0.83, affected pathway 0.67, literature 0.95, genetic association 0.58, somatic mutation 0.82). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3582","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3582"},{"label":"UniProt O15360","url":"https://www.uniprot.org/uniprotkb/O15360/entry"},{"label":"NCBI Gene 2175","url":"https://www.ncbi.nlm.nih.gov/gene/2175"},{"label":"Ensembl ENSG00000187741","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187741"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","skin-cancer","ovarian","prostate","myeloproliferative-neoplasms","lung-cancer","head-and-neck","colorectal"],"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: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". 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":"FANCA","role":["drug-target","oncogene-driver","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3582","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3582","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15360","url":"https://www.uniprot.org/uniprotkb/O15360/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FANCA","url":"https://civicdb.org/features/1810","note":"1 evidence items, 0 assertions, 1 variants; diseases: Prostate Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000187741","url":"https://platform.opentargets.org/target/ENSG00000187741/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: colorectal cancer 0.50, gastric cancer 0.50, prostate cancer 0.52, ovarian cancer 0.60, melanoma 0.56, head and neck squamous cell carcinoma 0.52 (GraphQL API, CC0)"},{"label":"IntOGen FANCA","url":"https://www.intogen.org/search?gene=FANCA","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:3582","ensembl":"ENSG00000187741","uniprot":"O15360","entrez":"2175","biology":"DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Location: Nucleus; Cytoplasm (UniProt). Locus 16q24.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.64 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.61 with skin cancer (MONDO_0002898)","Ovarian cancer: Open Targets association 0.60 with ovarian cancer (MONDO_0008170)","Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315); CIViC evidence names this disease","Myeloproliferative neoplasms: Open Targets association 0.56 with myeloproliferative neoplasm (MONDO_0020076)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)"],"targetClass":"oncogene","prevalence":[]},"route":"/targets/fanca/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"head-and-neck","kind":"cancer","name":"Head and neck squamous cell carcinoma","route":"/cancers/head-and-neck/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}