InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FANCD2

Summary

InnateDB Protein

IDBP-17545.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FANCD2

Protein Name

Fanconi anemia, complementation group D2

Synonyms

FA-D2; FA4; FACD; FAD; FAD2; FANCD;

Species

Homo sapiens

Ensembl Protein

ENSP00000287647

InnateDB Gene

IDBG-17539 (FANCD2)

Protein Structure

UniProt Annotation

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}.

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.

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.

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}.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	73 [view]
Protein-DNA	2 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005488	binding
GO:0005515	protein binding
GO:0070182	DNA polymerase binding

Biological Process

GO:0006281	DNA repair
GO:0006974	cellular response to DNA damage stimulus
GO:0007129	synapsis
GO:0007276	gamete generation
GO:0010332	response to gamma radiation