FANCD2
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.
Overview
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.
Open 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).
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · 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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis.
- 3 · How drugs use it
No product in this corpus aims at FANCD2 yet. Drugs bind the molecule precisely: to switch it off, flag the cell for the immune system, or deliver a payload.
External identifiers
Sources: HGNC HGNC:3585 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9BXW9 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000144554 (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))
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).
- 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)
Notes
top- 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.
Latest papers
topQuery for this target: (TITLE:"FANCD2" OR ABSTRACT:"FANCD2" OR TITLE:"FA complementation group D2" OR ABSTRACT:"FA complementation group D2" OR TITLE:"Fanconi anemia group D2 protein" OR ABSTRACT:"Fanconi anemia group D2 protein" OR TITLE:"FA-D2" OR ABSTRACT:"FA-D2" OR TITLE:"FANCD" OR ABSTRACT:"FANCD") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about FANCD2, not a curated reading list.
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