NKX2-5 gene

NK2 homeobox 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). Binds to the core DNA motif of NPPA promoter (PubMed:22849347, PubMed:26926761). It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ventricular septal defect 3
  • Hypothyroidism, congenital, nongoitrous, 5
  • Conotruncal heart malformations
  • Tetralogy of Fallot
  • Atrial septal defect 7 with or without atrioventricular conduction defects
  • Hypoplastic left heart syndrome 2

From UniProt:

Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7): A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria, and atrioventricular conduction defects in some cases. [MIM:108900]

Hypoplastic left heart syndrome 2 (HLHS2): A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. [MIM:614435]

Hypothyroidism, congenital, non-goitrous, 5 (CHNG5): A non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. [MIM:225250]

Tetralogy of Fallot (TOF): A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. [MIM:187500]

Conotruncal heart malformations (CTHM): A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. [MIM:217095]

Ventricular septal defect 3 (VSD3): A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. [MIM:614432]

Cytogenetic Location: 5q35.1, which is the long (q) arm of chromosome 5 at position 35.1

Molecular Location: base pairs 173,232,109 to 173,235,321 on chromosome 5 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 5q35.1, which is the long (q) arm of chromosome 5 at position 35.1
  • CHNG5
  • CSX
  • CSX1
  • HLHS2
  • NKX2.5
  • NKX2E
  • NKX4-1
  • VSD3