Gene content    
FANCD2 ( by HUGO)
Fanconi Anemia, Complementation Group D2
Tumor suppressor gene
Fanconi Anemia
Complementation Group D2
FACD
FANCD
FAD
FA-D2
FA4
FAD2
Fanconi Anemia Group D2 Protein
Protein FACD2
NCBI: 3p26    Ensembl: 3p25.3
FACD2_HUMANSize: 1471 amino acidsMass: 166462 Da

  • Subunit: Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated form specifically interacts with BRCA1 and BLM. Both the nonubiquitinated and the monoubiquitinated forms interact with BRCA2; this interaction is mediated by phosphorylated FANCG and the complex also includes XCCR3. The ubiquitinated form specifically interacts with MTMR15/FAN1 (via UBZ-type zinc finger), leading to recruit MTMR15/FAN1 to sites of DNA damage. Interacts with DCLRE1B/Apollo Developmental stage: Highly expressed in fetal oocytes, and in hematopoietic cells of the fetal liver and bone marrow (at protein level) Sequence caution: Sequence=BAB14132.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
  • Tissue specificity: 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 placent
  • Function:
    UniProtKB/Swiss-Prot Summary: FACD2_HUMAN, Q9BXW9 Function: 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. 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. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching Gene Ontology (GO): 3 molecular function terms: About this table GO ID Qualified GO term Evidence PubMed IDs GO:0005488 binding -- -- GO:0005515 protein binding IPI 12874027 GO:0070182 DNA polymerase binding IPI 19995904 [IMAGE] Find genes that share ontologies with FANCD2 About GenesLikeMe Phenotypes: 1 GenomeRNAi human phenotype for FANCD2: Synthetic lethal with Ras
  • Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process response to gamma radiation IDA GOA 12874027
    Molecular Function DNA polymerase binding IPI GOA 19995904
    protein binding IPI GOA 12874027

    Disorder & Mutation    
    Source Disease
    SWISS-PROTFanconi anemia complementation group D2 (FANCD2) [MIM:227646]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry

    FANCD2 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene