FANCD2 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. 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. 4 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: DNA repair, damage
Chromosomal Location of Human Ortholog: 3p25.3
Cellular Component:  cytosol; nuclear body; nucleolus; nucleoplasm; nucleus
Molecular Function:  DNA polymerase binding; protein binding
Biological Process:  brain morphogenesis; cellular response to oxidative stress; gamete generation; interstrand cross-link repair; neuronal stem cell population maintenance; regulation of CD40 signaling pathway; regulation of DNA-binding transcription factor activity; regulation of inflammatory response; regulation of regulatory T cell differentiation; response to gamma radiation; synapsis
Disease: Fanconi Anemia, Complementation Group D2
Reference #:  Q9BXW9 (UniProtKB)
Alt. Names/Synonyms: DKFZp762A223; FA complementation group D2; FA-D2; FA4; FACD; FACD2; FAD; FAD2; FANCD; FANCD2; Fanconi anemia complementation group D2; Fanconi anemia group D2 protein; Fanconi anemia, complementation group D2; FLJ23826; Protein FACD2; type 4 Fanconi pancytopenia
Gene Symbols: FANCD2
Molecular weight: 164,128 Da
Basal Isoelectric point: 5.58  Predict pI for various phosphorylation states
CST Pathways:  G2/M DNA Damage Checkpoint
Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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FANCD2

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  InnateDB  |  Ensembl Protein