GENE NAME | ZNF408 |
CHROMOSOME | 11 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000175213 |
UNIPROT ACCESSION NUMBER | Q9H9D4 |
GO MOLECULAR FUNCTION | ['RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'protein binding', 'metal ion binding', 'identical protein binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
10 combinations linked to ZNF408 | OLI314; OLI1255; OLI312; OLI1254; OLI313; OLI1258; OLI1250; OLI1256; OLI1249; OLI1259 |
5 variants linked to ZNF408 | ZNF408:c.892G>A, p.Gly298Ser; ZNF408:c.1964G>C, p.Arg655Thr; ZNF408:c.1965_1968del, p.Glu656ArgfsTer36; ZNF408:c.1010G>C, p.Arg337Pro; ZNF408:c.581_592del, p.Val194_Val197del |
1 disease linked to ZNF408 | Familial exudative vitreoretinopathy |