| GENE NAME | NKX2-5 |
| CHROMOSOME | 5 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000183072 |
| UNIPROT ACCESSION NUMBER | P52952 |
| GO MOLECULAR FUNCTION | ['DNA-binding transcription activator activity', 'sequence-specific DNA binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'chromatin 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', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'sequence-specific double-stranded DNA binding', 'protein binding', 'protein homodimerization activity', 'DNA-binding transcription factor activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-2032785; R-HSA-212436; R-HSA-397014; R-HSA-5576891; R-HSA-5578768; R-HSA-73857; R-HSA-74160 |
| 5 combinations linked to NKX2-5 | OLI1092; OLI1609; OLI1506; OLI606; OLI151 |
| 5 variants linked to NKX2-5 | NKX2-5:p.214dup; NKX2-5:c.448G>A, p.Val150Ile; NKX2-5:c.355G>T, p.Ala119Ser; NKX2-5:c.639_641dup, p.Pro214dup; NKX2-5:c.632C>T, p.Pro211Leu |
| 3 diseases linked to NKX2-5 | Ventricular septal defect; Congenital hypothyroidism; Left ventricular noncompaction |