{"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"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FANCA: RNA tissue enhanced (testis 21 nTPM); no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Skin cancer (all types), Ovarian cancer, Prostate cancer, Myeloid neoplasms, Lung cancer (all types), Head and neck squamous cell carcinoma and more); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"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":"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"},{"label":"Human Protein Atlas FANCA tissue","url":"https://www.proteinatlas.org/ENSG00000187741-FANCA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000187741 associations","url":"https://platform.opentargets.org/target/ENSG00000187741/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3582","ensembl":"ENSG00000187741","uniprot":"O15360","entrez":"2175","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lo Ten Foe J.R. et al, Nat. Genet, 1996, \"Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8896563/","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/"}]}}