FA complementation group D2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalChildhood solid tumours
BIALLELIC, autosomal or pseudoautosomalChildhood solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalConfirmed Fanconi anaemia or Bloom syndrome
BIALLELIC, autosomal or pseudoautosomalCOVID-19 research
BIALLELIC, autosomal or pseudoautosomalCytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomal+13 more panels — install the extension to see the full list inline on any page.
Fanconi anemia complementation group D2
Fanconi anemia
acute myeloid leukemia
hereditary disease
leukemia
myelodysplastic syndrome
Bone marrow hypocellularity
Hereditary breast cancer
hereditary breast carcinoma
ovarian cancer
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Fanconi anemia group D2 protein
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
Curated MONDO disease pages that list FANCD2 among their top associated genes.
FANCD2 · Q9BXW9
Mean pLDDT
76.8/ 100
Confident
1,451 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
