| GENE NAME | SOX2 |
| CHROMOSOME | 3 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000181449 |
| UNIPROT ACCESSION NUMBER | P48431 |
| GO MOLECULAR FUNCTION | ['sequence-specific DNA binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'miRNA binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'transcription cis-regulatory region binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'DNA binding', 'protein binding', 'DNA-binding transcription factor activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04390; hsa04550; hsa04390; hsa04550; R-HSA-1266738; R-HSA-1280215; R-HSA-162582; R-HSA-168256; R-HSA-195721; R-HSA-201681; R-HSA-212436; R-HSA-2892245; R-HSA-2892247; R-HSA-3769402; R-HSA-449147; R-HSA-452723; R-HSA-6785807; R-HSA-73857; R-HSA-74160; R-HSA-8986944 |
| 3 combinations linked to SOX2 | OLI1349; OLI1353; OLI1352 |
| 2 variants linked to SOX2 | SOX2:c.695C>A, p.Thr232Asn; SOX2:c.330C>A, p.Tyr110Ter |
| 1 disease linked to SOX2 | Normosmic congenital hypogonadotropic hypogonadism |