GENE NAME | FANCD2 |
CHROMOSOME | 3 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000144554 |
UNIPROT ACCESSION NUMBER | Q9BXW9 |
GO MOLECULAR FUNCTION | ['DNA polymerase binding', 'protein binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa03460; R-HSA-212436; R-HSA-3700989; R-HSA-6783310; R-HSA-6796648; R-HSA-73857; R-HSA-73894; R-HSA-74160 |
4 combinations linked to FANCD2 | OLI1514; OLI1527; OLI1577; OLI1543 |
4 variants linked to FANCD2 | FANCD2:c.2965C>G, p.Pro989Ala; FANCD2:c.311T>C, p.Ile104Thr; FANCD2:c.986C>G, p.Ala329Gly; FANCD2:c.2255T>C, p.Ile752Thr |
2 diseases linked to FANCD2 | 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development |