Details for Gene SOX3

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

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