Expressed at embryonic stages 10 to 11 in the nondifferentiated mesodermal cells at the venous and arterial poles, as well as cells of the dorsal coelomic wall and ruptured mesocardium (at protein level) (PubMed:21403123). Expressed by all myocardial cells at embryonic stages 10 to 11 (at protein level) (PubMed:21403123).
The homeobox domain binds to double-stranded DNA (PubMed:22849347).
Transcription factor required for the development of the heart and the spleen (PubMed:22560297). During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4 (By similarity). May cooperate with TBX2 to negatively modulate expression of NPPA/ANF in the atrioventricular canal (By similarity). Binds to the core DNA motif of NPPA promoter (PubMed:22849347, PubMed:26926761). Together with PBX1, required for spleen development through a mechanism that involves CDKN2B repression (PubMed:22560297). Positively regulates transcription of genes such as COL3A1 and MMP2, resulting in increased pulmonary endothelial fibrosis in response to hypoxia (PubMed:29899023).
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the NK-2 homeobox family.
Expressed only in the heart.
CSX, NKX2.5, NKX2E, NKX2-5, Homeobox protein Nkx-2.5, Cardiac-specific homeobox, Homeobox protein CSX, Homeobox protein NK-2 homolog E
Proteins
Cardiovascular
34918Da
We found 9 products in 3 categories
ab97355
ab106923
ab152305
ab209838