| Gene Information | |
|---|---|
| Gene Name | FANCD2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1451 |
| Protein Names | Fanconi anemia group D2 protein (Protein FACD2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000144554 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q9BXW9 |
| Gene Card | FANCD2 |
| Uniprot ID | Q9BXW9 |
| Pfam | PF14631 |
| In ASD | no |
| Allosteric Prediction | no (-0.2835062) |
| Ortholog in Animals | Alpaca_ FANCD2 ( ortholog_one2one ) Dog_ FANCD2 ( ortholog_one2one ) GuineaPig_ FANCD2 ( ortholog_one2one ) Macaque_ FANCD2 ( ortholog_one2one ) Mouse_ Fancd2 ( ortholog_one2one ) Pig_ FANCD2 ( ortholog_one2one ) Rat_ Fancd2 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| 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:0000269|PubMed:11239453, ECO:0000269|PubMed:14517836, ECO:0000269|PubMed:15454491}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.030769(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 6VAA (EM 3.35A ) 6VAD (EM 3.35A ) 6VAE (EM 3.50A ) 6VAF (EM 3.90A ) 7AY1 (EM 3.70A ) 7KZQ (EM 4.20A ) 7KZR (EM 4.20A ) 7KZS (EM 4.20A ) 7KZT (EM 4.20A ) 7KZV (EM 4.20A ) |
| DBSNP | rs34691009 rs35110529 rs36084488 rs764507146 rs35173688 rs34936017 rs121917787 rs35625434 rs34557223 rs35782247 rs36070315 rs3864017 rs35546777 rs35495399 rs121917786 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:11239454, ECO:0000269|PubMed:12093742, ECO:0000269|PubMed:19465921, ECO:0000269|PubMed:19465922, ECO:0000269|PubMed:30335751}. 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. |
| Mouse PG classification | LPG |
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