NKX2-5
NK2 homeobox 5
Synonyms:
CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
Species:
Human NKX2-5 (1482), Mouse Nkx2-5 (18091), Rat Nkx2-5 (114109), sheep NKX2-5 (101109645), naked mole-rat Nkx2-5 (101724475), domestic guinea pig Nkx2-5 (100718784), chicken NKX2-5 (396073), cow NKX2-5 (538870), domestic cat NKX2-5 (101090739), dog NKX2-5 (489113)
UniProtKB ID:
Gene ID:
- Human(1482) Summary: This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
- Mouse(18091) NK2 homeobox 5
- Rat(114109) NK2 homeobox 5
- sheep(101109645) NK2 homeobox 5
- naked mole-rat(101724475) NK2 homeobox 5
- domestic guinea pig(100718784) NK2 homeobox 5
- chicken(396073) NK2 transcription factor related, locus 5 (Drosophila)
- cow(538870) NK2 homeobox 5
- domestic cat(101090739) NK2 homeobox 5
- dog(489113) NK2 homeobox 5
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