NKX2-5
entrez
1482
canonical
uniprot
P52952
canonical
ensembl
ENSG00000183072
resolver
ensp
ENSP00000327758
resolver
ensp
ENSP00000395378
resolver
ensp
ENSP00000427906
resolver
ensp
ENSP00000429905
resolver
enst
ENST00000517440
resolver
genesymbol
NKX2-5
resolver
genesymbol_syn
CSX
resolver
genesymbol_syn
NKX2.5
resolver
genesymbol_syn
NKX2E
resolver
hgnc
HGNC:2488
resolver
uniprot
A0A0S2Z383
resolver
uniprot
A0A0S2Z3K2
resolver
uniprot
A8K3K0
resolver
uniprot
B4DNB6
resolver
uniprot
E5RH49
resolver
uniprot
E9PBU6
resolver
uniprot_entry
A0A0S2Z383_HUMAN
resolver
uniprot_entry
A0A0S2Z3K2_HUMAN
resolver
uniprot_entry
E5RH49_HUMAN
resolver
uniprot_entry
NKX25_HUMAN
resolver
uniprot_sec
A8K3K0
resolver
uniprot_sec
B4DNB6
resolver
uniprot_sec
E9PBU6
resolver
amino_acid_sequence
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPAKCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQRYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPAYGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHGIRAW
uniprot
proteins
disease_involvement
DISEASE: Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]: 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. {ECO:0000269|PubMed:10587520, ECO:0000269|PubMed:14607454, ECO:0000269|PubMed:15342699, ECO:0000269|PubMed:15810002, ECO:0000269|PubMed:9651244}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Tetralogy of Fallot (TOF) [MIM:187500]: 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. {ECO:0000269|PubMed:10587520, ECO:0000269|PubMed:11714651, ECO:0000269|PubMed:14607454, ECO:0000269|PubMed:19948535}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Conotruncal heart malformations (CTHM) [MIM:217095]: 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. {ECO:0000269|PubMed:14607454, ECO:0000269|PubMed:17891434}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) [MIM:225250]: 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. {ECO:0000269|PubMed:16418214}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ventricular septal defect 3 (VSD3) [MIM:614432]: 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. {ECO:0000269|PubMed:21110066, ECO:0000269|PubMed:21165553}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypoplastic left heart syndrome 2 (HLHS2) [MIM:614435]: 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. {ECO:0000269|PubMed:14607454, ECO:0000269|PubMed:15810002}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:P42582, ECO:0000269|PubMed:22560297, ECO:0000269|PubMed:22849347, ECO:0000269|PubMed:26926761, ECO:0000269|PubMed:29899023}.
uniprot
proteins
mass_dalton
34918
uniprot
proteins
protein_family
NK-2 homeobox family
uniprot
proteins
pubmed
10587520
uniprot
proteins
pubmed
11714651
uniprot
proteins
pubmed
14607454
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15342699
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15810002
uniprot
proteins
pubmed
16418214
uniprot
proteins
pubmed
17891434
uniprot
proteins
pubmed
19948535
uniprot
proteins
pubmed
21110066
uniprot
proteins
pubmed
21165553
uniprot
proteins
pubmed
21403123
uniprot
proteins
pubmed
22560297
uniprot
proteins
pubmed
22849347
uniprot
proteins
pubmed
26926761
uniprot
proteins
pubmed
29899023
uniprot
proteins
pubmed
8900537
uniprot
proteins
pubmed
9651244
uniprot
proteins
sequence_length
324
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29899023}.
uniprot
proteins