GENE NAME | SOX8 |
CHROMOSOME | 16 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000005513 |
UNIPROT ACCESSION NUMBER | P57073 |
GO MOLECULAR FUNCTION | ['DNA binding', 'DNA-binding transcription factor binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'sequence-specific double-stranded DNA binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
3 combinations linked to SOX8 | OLI1568; OLI1749; OLI1516 |
3 variants linked to SOX8 | SOX8:c.1264G>A, p.Gly422Ser; SOX8:c.1144G>A, p.Asp382Asn; SOX8:c.694A>C, p.Lys232Gln |
2 diseases linked to SOX8 | 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development |