Details for Gene FANCD2

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 OLI1527; OLI1543; OLI1577; OLI1514
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

Found any issues with the data on this page? Report this entry.