{"entity":{"id":"fancd2","kind":"target","name":"FANCD2","aka":["FA complementation group D2","Fanconi anemia group D2 protein","FA-D2","FANCD"],"tldr":"FANCD2 (Fanconi anaemia group D2 protein) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Myeloproliferative neoplasms, Breast cancer and 5 more.","summary":"Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.\n\nOpen Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes genetic literature 0.89, affected pathway 0.27, literature 0.97, genetic association 0.75, somatic mutation 0.90, animal model 0.37).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3585"},{"label":"UniProt Q9BXW9","url":"https://www.uniprot.org/uniprotkb/Q9BXW9/entry"},{"label":"NCBI Gene 2177","url":"https://www.ncbi.nlm.nih.gov/gene/2177"},{"label":"Ensembl ENSG00000144554","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144554"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","breast-cancer","ovarian","skin-cancer","lung-cancer","aml","melanoma"],"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: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" 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":"FANCD2","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3585","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BXW9","url":"https://www.uniprot.org/uniprotkb/Q9BXW9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000144554","url":"https://platform.opentargets.org/target/ENSG00000144554/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: ovarian cancer 0.62, melanoma 0.55, acute myeloid leukaemia 0.64, skin cancer 0.56, myeloproliferative neoplasm 0.66, breast cancer 0.64 (GraphQL API, CC0)"}],"hgnc":"HGNC:3585","ensembl":"ENSG00000144554","uniprot":"Q9BXW9","entrez":"2177","biology":"Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. The FANCI-FANCD2 complex binds and scans double-stranded DNA (dsDNA) for DNA damage; this complex stalls at DNA junctions between double-stranded DNA and single-stranded DNA. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Location: Nucleus (UniProt). Locus 3p25.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.70 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.66 with myeloproliferative neoplasm (MONDO_0020076)","Breast cancer: Open Targets association 0.64 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.62 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)"],"targetClass":"other","prevalence":[]},"route":"/targets/fancd2/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"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":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"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":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}