GATA4
entrez
2626
canonical
uniprot
P43694
canonical
ensembl
ENSG00000136574
resolver
ensembl
ENSG00000285109
resolver
ensp
ENSP00000334458
resolver
ensp
ENSP00000435043
resolver
ensp
ENSP00000435712
resolver
ensp
ENSP00000473671
resolver
ensp
ENSP00000494427
resolver
ensp
ENSP00000494491
resolver
enst
ENST00000528712
resolver
enst
ENST00000532977
resolver
enst
ENST00000642753
resolver
enst
ENST00000646696
resolver
genesymbol
GATA4
resolver
hgnc
HGNC:4173
resolver
uniprot
A0AAG2TIL7
resolver
uniprot
B3KUF4
resolver
uniprot
B6DU75
resolver
uniprot
B7ZKX0
resolver
uniprot
B7ZKZ4
resolver
uniprot
F6VE90
resolver
uniprot
Q3MJ45
resolver
uniprot
Q5IFM8
resolver
uniprot_entry
A0AAG2TIL7_HUMAN
resolver
uniprot_entry
B3KUF4_HUMAN
resolver
uniprot_entry
B6DU75_HUMAN
resolver
uniprot_entry
F6VE90_HUMAN
resolver
uniprot_entry
GATA4_HUMAN
resolver
uniprot_sec
B7ZKX0
resolver
uniprot_sec
B7ZKZ4
resolver
uniprot_sec
Q3MJ45
resolver
uniprot_sec
Q5IFM8
resolver
amino_acid_sequence
MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGSSGGAASGAGPGTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSSPYPAYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRKRKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPVLSALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA
uniprot
proteins
disease_involvement
DISEASE: Atrial septal defect 2 (ASD2) [MIM:607941]: 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. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non-cardiac abnormalities. {ECO:0000269|PubMed:12845333, ECO:0000269|PubMed:15810002, ECO:0000269|PubMed:17643447, ECO:0000269|PubMed:18055909, ECO:0000269|PubMed:20347099, ECO:0000269|PubMed:20659440, ECO:0000269|PubMed:27984724}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ventricular septal defect 1 (VSD1) [MIM:614429]: 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:18672102, ECO:0000269|PubMed:21110066, ECO:0000269|PubMed:21637914, ECO:0000269|PubMed:22101736}. 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:18672102, ECO:0000269|PubMed:21110066, ECO:0000269|PubMed:24000169}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Atrioventricular septal defect 4 (AVSD4) [MIM:614430]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. {ECO:0000269|PubMed:17643447}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Testicular anomalies with or without congenital heart disease (TACHD) [MIM:615542]: A 46,XY disorder of sex development with variable clinical presentation and defects in testicular differentiation and function. Clinical features include ambiguous genitalia, fused labioscrotal folds, hypospadias, microphallus, and bilateral inguinal hernia containing gonads. {ECO:0000269|PubMed:21220346}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=GATA4 mutations can predispose to dilated cardiomyopathy (CMD), a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:24041700, ECO:0000269|PubMed:25017055}.
uniprot
proteins
function
FUNCTION: Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function (PubMed:24000169, PubMed:27984724, PubMed:35182466). In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it down-regulates endocardial and endothelial gene expression (PubMed:27984724). Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement (PubMed:20081228). Required during testicular development (PubMed:21220346). May play a role in sphingolipid signaling by regulating the expression of sphingosine-1-phosphate degrading enzyme, sphingosine-1-phosphate lyase (PubMed:15734735). {ECO:0000250|UniProtKB:P46152, ECO:0000250|UniProtKB:Q08369, ECO:0000269|PubMed:15734735, ECO:0000269|PubMed:20081228, ECO:0000269|PubMed:21220346, ECO:0000269|PubMed:24000169, ECO:0000269|PubMed:27984724, ECO:0000269|PubMed:35182466}.
uniprot
proteins
mass_dalton
44565
uniprot
proteins
post_translational_modification
PTM: Methylation at Lys-300 attenuates transcriptional activity. {ECO:0000250}.
uniprot
proteins
pubmed
12845333
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15734735
uniprot
proteins
pubmed
15810002
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17643447
uniprot
proteins
pubmed
18055909
uniprot
proteins
pubmed
18672102
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20081228
uniprot
proteins
pubmed
20347099
uniprot
proteins
pubmed
20659440
uniprot
proteins
pubmed
21110066
uniprot
proteins
pubmed
21220346
uniprot
proteins
pubmed
21637914
uniprot
proteins
pubmed
22101736
uniprot
proteins
pubmed
24000169
uniprot
proteins
pubmed
24041700
uniprot
proteins
pubmed
25017055
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
27984724
uniprot
proteins
pubmed
35182466
uniprot
proteins
pubmed
7721094
uniprot
proteins
sequence_length
442
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21220346, ECO:0000269|PubMed:24000169}.
uniprot
proteins