Required for maintenance of chromosomal stability (PubMed:11239453, PubMed:14517836). Promotes accurate and efficient pairing of homologs during meiosis (PubMed:14517836). Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing (PubMed:15671039, PubMed:15650050, PubMed:30335751, PubMed:36385258).
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 (By similarity). May participate in S phase and G2 phase checkpoint activation upon DNA damage (PubMed:15377654). Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress (PubMed:15454491, PubMed:15661754).
Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress (PubMed:15661754, PubMed:19465921). Promotes BRCA2/FANCD1 loading onto damaged chromatin (PubMed:11239454, PubMed:12239151, PubMed:12086603, PubMed:15115758, PubMed:15199141, PubMed:15671039, PubMed:18212739). May also be involved in B-cell immunoglobulin isotype switching
Homodimer; cannot be ubiquitinated and does not bind DNA (By similarity). Part of a FANCI-FANCD2 heterodimeric complex that binds and scans dsDNA for DNA damage (PubMed:36385258). Interacts directly with FANCE and FANCI (PubMed:12093742, PubMed:12649160, PubMed:17412408, PubMed:17460694).
Interacts with USP1 and MEN1 (PubMed:12874027, PubMed:15694335). The ubiquitinated form specifically interacts with BRCA1 and BLM (PubMed:11239454, PubMed:15257300). Both the nonubiquitinated and the monoubiquitinated forms interact with BRCA2; this interaction is mediated by phosphorylated FANCG and the complex also includes XCCR3 (PubMed:15115758, PubMed:15199141, PubMed:18212739).
The ubiquitinated form specifically interacts with MTMR15/FAN1 (via UBZ-type zinc finger), leading to recruit MTMR15/FAN1 to sites of DNA damage (PubMed:20603015, PubMed:20603016, PubMed:20603073). Interacts with DCLRE1B/Apollo (PubMed:18469862). Interacts with POLN (PubMed:19995904).
Interacts with UHRF1 and UHRF2; these interactions promote FANCD2 activation (PubMed:30335751)
Highly expressed in germinal center cells of the spleen, tonsil, and reactive lymph nodes, and in the proliferating basal layer of squamous epithelium of tonsil, esophagus, oropharynx, larynx and cervix. Expressed in cytotrophoblastic cells of the placenta and exocrine cells of the pancreas (at protein level). Highly expressed in testis, where expression is restricted to maturing spermatocytes
The C-terminal 24 residues of isoform 2 are required for its function
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Click a pathway to open the interactive Reactome viewer.
Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to FANCD2OS, aggregated across our SSL data sources. Click any partner node to view that gene’s page.
Nodes and edges are coloured by the SSL data source. Partners appearing in more than one source are shown in grey.
Total Trials Found: 596
| NCT ID | Condition | Brief Title | Phase | Status |
|---|---|---|---|---|
| NCT03377556 | ATM Gene Mutation, ATR Gene Mutation, BARD1 Gene Mutation, BRCA1 Gene Mutation, BRCA2 Gene Mutation, BRIP1 Gene Mutation, CHEK1 Gene Mutation, CHEK2 Gene Mutation, FANCA Gene Mutation, FANCC Gene Mutation, FANCD2 Gene Mutation, FANCF Gene Mutation, FANCM Gene Mutation, NBN Gene Mutation, PALB2 Gene Mutation, RAD51 Gene Mutation, RAD51B Gene Mutation, RAD54L Gene Mutation, Recurrent Squamous Cell Lung Carcinoma, RPA1 Gene Mutation, Stage IV Squamous Cell Lung Carcinoma AJCC v7 | Lung-MAP: Talazoparib in Treating Patients With HRRD Positive Recurrent Stage IV Squamous Cell Lung Cancer | PHASE2 | COMPLETED |
| NCT01146210 | Childhood Acute Erythroleukemia (M6), Childhood Acute Megakaryocytic Leukemia (M7), Childhood Acute Minimally Differentiated Myeloid Leukemia (M0), Childhood Acute Monoblastic Leukemia (M5a), Childhood Acute Monocytic Leukemia (M5b), Childhood Acute Myeloblastic Leukemia With Maturation (M2), Childhood Acute Myeloblastic Leukemia Without Maturation (M1), Childhood Acute Myelomonocytic Leukemia (M4), Childhood Myelodysplastic Syndromes, Chronic Myelomonocytic Leukemia, de Novo Myelodysplastic Syndromes, Fanconi Anemia, Refractory Anemia, Refractory Anemia With Excess Blasts, Refractory Anemia With Excess Blasts in Transformation, Refractory Anemia With Ringed Sideroblasts, Secondary Myelodysplastic Syndromes, Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies | Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia | N/A | COMPLETED |
| NCT04030559 | ATM Gene Mutation, BRCA1 Gene Mutation, BRCA2 Gene Mutation, BRIP1 Gene Mutation, CDK12 Gene Mutation, CHEK1 Gene Mutation, CHEK2 Gene Mutation, DNA Damage Response Gene Mutation, DNA Repair Gene Mutation, FANCA Gene Mutation, FANCD2 Gene Mutation, FANCL Gene Mutation, GEN1 Gene Mutation, NBN Gene Mutation, Prostate Carcinoma, RAD51 Gene Mutation, RAD51C Gene Mutation | Niraparib Before Surgery in Treating Patients With High Risk Localized Prostate Cancer and DNA Damage Response Defects | PHASE2 | ACTIVE_NOT_RECRUITING |