| GENE NAME | NKX2-1 |
| CHROMOSOME | 14 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000136352 |
| UNIPROT ACCESSION NUMBER | P43699 |
| GO MOLECULAR FUNCTION | ['RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'enzyme binding', 'transcription cis-regulatory region binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'intronic transcription regulatory region sequence-specific DNA binding', 'DNA binding', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'protein binding', 'RNA polymerase II transcription regulatory region sequence-specific DNA binding', 'DNA-binding transcription factor activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | |
| 12 combinations linked to NKX2-1 | OLI588; OLI1083; OLI1084; OLI582; OLI1502; OLI1500; OLI1501; OLI1081; OLI184; OLI580; OLI1499; OLI1082 |
| 7 variants linked to NKX2-1 | NKX2-1:p.Arg151Cys; NKX2-1:p.His60ThrfsTer11; NKX2-1:p.Ala52ArgfsTer351; NKX2-1:c.7A>T, p.Met3Leu; NKX2-1:p.Gly352Ser; NKX2-1:c.1106C>T, p.Ala369Val; NKX2-1:c.1054G>A, p.Gly352Ser |
| 2 diseases linked to NKX2-1 | Congenital hypothyroidism; Hirschsprung disease |