| GENE NAME | SOX9 |
| CHROMOSOME | 17 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000125398 |
| UNIPROT ACCESSION NUMBER | P48436 |
| GO MOLECULAR FUNCTION | ['chromatin binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'beta-catenin binding', 'pre-mRNA intronic binding', 'sequence-specific double-stranded DNA binding', 'cis-regulatory region sequence-specific DNA binding', 'sequence-specific DNA binding', 'protein binding', 'bHLH transcription factor binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'DNA-binding transcription factor activity', 'protein kinase A catalytic subunit binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04024; R-HSA-1266738; R-HSA-162582; R-HSA-195721; R-HSA-201681; R-HSA-212436; R-HSA-3769402; R-HSA-73857; R-HSA-74160; R-HSA-8878166; R-HSA-9690406 |
| 2 combinations linked to SOX9 | OLI1325; OLI1748 |
| 2 variants linked to SOX9 | SOX9:c.283G>A, p.Val95Ile; SOX9:c.710dup, p.Pro238ThrfsTer14 |
| 2 diseases linked to SOX9 | Non-acquired combined pituitary hormone deficiency; 46,XY disorder of sex development |