InnateDB Protein
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IDBP-17545.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FANCD2
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Protein Name
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Fanconi anemia, complementation group D2
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Synonyms
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FA-D2; FA4; FACD; FAD; FAD2; FANCD;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000287647
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InnateDB Gene
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IDBG-17539 (FANCD2)
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Protein Structure
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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. {ECO:0000269PubMed:11239453, ECO:0000269PubMed:11239454, ECO:0000269PubMed:12086603, ECO:0000269PubMed:12239151, ECO:0000269PubMed:14517836, ECO:0000269PubMed:15115758, ECO:0000269PubMed:15314022, ECO:0000269PubMed:15377654, ECO:0000269PubMed:15454491, ECO:0000269PubMed:15650050, ECO:0000269PubMed:15661754, ECO:0000269PubMed:15671039, ECO:0000269PubMed:19465921}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:11239454, ECO:0000269PubMed:12093742, ECO:0000269PubMed:19465921, ECO:0000269PubMed:19465922}. Note=Concentrates in nuclear foci during S phase and upon genotoxic stress. At the onset of mitosis, excluded from chromosomes and diffuses into the cytoplasm, returning to the nucleus at the end of cell division. Observed in a few spots localized in pairs on the sister chromatids of mitotic chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites and could be sites of replication fork stalling. The foci are frequently interlinked through BLM-associated ultra-fine DNA bridges. Following aphidicolin treatment, targets chromatid gaps and breaks.
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Disease Associations |
Fanconi 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. {ECO:0000269PubMed:11239453}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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 placenta and exocrine cells of the pancreas (at protein level). Highly expressed in testis, where expression is restricted to maturing spermatocytes. {ECO:0000269PubMed:11239453, ECO:0000269PubMed:14517836, ECO:0000269PubMed:15454491}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 76 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated |
Total |
76
[view]
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Protein-Protein |
73
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
1
[view]
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
5 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR016024
Armadillo-type fold
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BXW9
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PhosphoSite |
PhosphoSite-Q9BXW9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
2177
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UniGene |
Hs.682425
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RefSeq |
NP_149075
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HUGO |
HGNC:3585
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OMIM |
613984
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CCDS |
CCDS2595
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HPRD |
01968
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IMGT |
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EMBL |
AF230336
AF273222
AF273223
AF273224
AF273225
AF273226
AF273227
AF273228
AF273229
AF273230
AF273231
AF273232
AF273233
AF273234
AF273235
AF273236
AF273237
AF273238
AF273239
AF273240
AF273241
AF273242
AF273243
AF273244
AF273245
AF273246
AF273247
AF273248
AF273249
AF273250
AF273251
AF340183
AK022613
AL832427
BC013582
DQ341263
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GenPept |
AAH13582
AAK15369
AAK18772
AAK18773
AAL05980
ABC67466
BAB14132
CAH10647
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