Gene: NKX2-5

Alternate names for this Gene: CHNG5|CSX|CSX1|HLHS2|NKX2.5|NKX2E|NKX4-1|VSD3

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.1

Description of this Gene: NK2 homeobox 5

Type of Gene: protein-coding

rs104893900 in NKX2-5 gene and ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS PMID 14607454 2003 NKX2.5 mutations in patients with congenital heart disease.

PMID 15342699 2004 Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

PMID 10587520 1999 Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

PMID 15810002 2005 Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

PMID 9651244 1998 Congenital heart disease caused by mutations in the transcription factor NKX2-5.

PMID 15689439 2005 Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors.

PMID 10948187 2000 Functional analyses of three CsxNkx-2.5 mutations that cause human congenital heart disease.

PMID 21561848 2011 Sequence variations of NKX2-5 and HAND1 genes in patients with atrial isomerism.

rs6882776 in NKX2-5 gene and Atrial Fibrillation PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

PMID 23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.

rs72554028 in NKX2-5 gene and Atrial Septal Defect with Atrioventricular Conduction Defects PMID 25319568 2014 NKX2-6 mutation predisposes to familial atrial fibrillation.

PMID 24880466 2014 Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia.

rs397516908 in NKX2-5 gene and Congenital Heart Defects PMID 10587520 1999 Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

PMID 9651244 1998 Congenital heart disease caused by mutations in the transcription factor NKX2-5.

rs137852684 in NKX2-5 gene and HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) PMID 16418214 2006 Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.

rs104893902 in NKX2-5 gene and Tetralogy of Fallot PMID 11714651 2001 NKX2.5 mutations in patients with tetralogy of fallot.

PMID 14607454 2003 NKX2.5 mutations in patients with congenital heart disease.

PMID 10587520 1999 Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

rs375086983 in NKX2-5 gene and VENTRICULAR SEPTAL DEFECT 3 PMID 21165553 2011 A novel NKX2-5 mutation in familial ventricular septal defect.

PMID 21110066 2010 Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

rs6882776 in NKX2-5 gene and heart rate PMID 23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.