{"entity":{"id":"fancl","kind":"target","name":"FANCL","aka":["FA complementation group L","E3 ubiquitin-protein ligase FANCL","FLJ10335","FAAP43","Pog","PHF9"],"tldr":"FANCL (E3 ubiquitin-protein ligase FANCL) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Olaparib. Open Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes genetic literature 0.83, affected pathway 0.25, literature 0.53, genetic association 0.14, animal model 0.54).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20748","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20748"},{"label":"UniProt Q9NW38","url":"https://www.uniprot.org/uniprotkb/Q9NW38/entry"},{"label":"NCBI Gene 55120","url":"https://www.ncbi.nlm.nih.gov/gene/55120"},{"label":"Ensembl ENSG00000115392","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115392"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["prostate"],"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; 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":"FANCL","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:20748","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20748","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NW38","url":"https://www.uniprot.org/uniprotkb/Q9NW38/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FANCL","url":"https://civicdb.org/features/12754","note":"1 evidence items, 0 assertions, 1 variants; diseases: Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000115392","url":"https://platform.opentargets.org/target/ENSG00000115392/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"one-type","specificityNote":"Germline variant: UniProt lists Fanconi anemia complementation group L (FANCL) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA FANCL: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9NW38","url":"https://www.uniprot.org/uniprotkb/Q9NW38/entry","note":"involvement in disease"},{"label":"Human Protein Atlas FANCL tissue","url":"https://www.proteinatlas.org/ENSG00000115392-FANCL/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115392 associations","url":"https://platform.opentargets.org/target/ENSG00000115392/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20748","ensembl":"ENSG00000115392","uniprot":"Q9NW38","entrez":"55120","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth. Location: Cytoplasm; Nucleus (UniProt). Locus 2p16.1 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/fancl/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"}]}}