GENE NAME | SOX30 |
CHROMOSOME | 5 |
ENSEMBL ID | ENSG00000039600 |
ENTREZ ID | 11063 |
UNIPROT ACCESSION NUMBER | O94993 |
GO MOLECULAR FUNCTION | protein binding; DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription repressor activity, RNA polymerase II-specific; sequence-specific double-stranded DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription factor activity; DNA binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
1 combination linked to SOX30 | OLI575 |
1 variant linked to SOX30 | SOX30:c.455C>T, p.Pro152Leu |
1 disease linked to SOX30 | Disorder of sex development |