Details for Gene SOX8

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 OLI1749; OLI1516; OLI1568
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

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