GENE NAME | SOX3 |
CHROMOSOME | X |
ENSEMBL ID | ENSG00000134595 |
ENTREZ ID | 6658 |
UNIPROT ACCESSION NUMBER | P41225 |
GO MOLECULAR FUNCTION | protein binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA binding; sequence-specific double-stranded DNA binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-3769402; R-HSA-195721; R-HSA-201681; R-HSA-162582 |
1 combination linked to SOX3 | OLI961 |
1 variant linked to SOX3 | SOX3:c.720_740del, |
1 disease linked to SOX3 | Non-acquired combined pituitary hormone deficiency |