| GENE NAME | TCF12 |
| CHROMOSOME | 15 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000140262 |
| UNIPROT ACCESSION NUMBER | Q99081 |
| GO MOLECULAR FUNCTION | ['RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'transcription cis-regulatory region binding', 'E-box binding', 'cAMP response element binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'sequence-specific double-stranded DNA binding', 'SMAD binding', 'protein heterodimerization activity', 'protein binding', 'HMG box domain binding', 'DNA-binding transcription factor binding', 'cis-regulatory region sequence-specific DNA binding', 'bHLH transcription factor binding', 'DNA-binding transcription factor activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1266738; R-HSA-162582; R-HSA-166520; R-HSA-187037; R-HSA-198725; R-HSA-212436; R-HSA-525793; R-HSA-73857; R-HSA-74160; R-HSA-8878171; R-HSA-8939236; R-HSA-9006934; R-HSA-9031628 |
| 3 combinations linked to TCF12 | OLI1391; OLI1389; OLI1384 |
| 3 variants linked to TCF12 | TCF12:c.454C>T, p.Pro152Ser; TCF12:c.1491dup, p.Val498CysfsTer12; TCF12:c.391T>C, p.Ser131Pro |
| 1 disease linked to TCF12 | Hypogonadotropic hypogonadism with partial puberty phenotype |