| Gene |
FANCD2
|
| Protein Name |
FACD2_HUMAN |
| Organism |
Homo sapiens (Human) |
| Alternative name(s) |
Fanconi anemia group D2 protein (Protein FACD2) |
| Protein Family |
N/A |
| NCBI Gene ID |
2177
|
| UniProt ID |
Q9BXW9
|
| Enzyme Class |
- |
| Molecular Weight |
164128 |
| Protein Length |
1451 |
| Protein Domain |
InterPro |
Pfam
|
| 3D Structure |
PDBe |
PDBj |
RCSB PDB |
DrugPort
ModBase |
SwissModel
|
| Gene Expression |
Gene Expression Atlas
|
| Function and Disease |
OMIM |
| Protein-protein Interaction Database |
STRING |
IntAct |
MINT
|
| Kinase Database |
Phospho.ELM
|
PhosphoSite
| NetworKIN
|
| Catalytic Activity (UniProt annotation) |
- |
| Localization |
Nucleus 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. |
| Function (UniProt annotation) |
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:0000793; GO:0005634; GO:0005654; GO:0005730; GO:0005829; GO:0006281; GO:0007129; GO:0007276; GO:0010332; GO:0016604; GO:0034599; GO:0036297; GO:0045589; GO:0048854; GO:0050727; GO:0051090; GO:0070182; GO:0097150; GO:2000348 |
