InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GATA4

Summary

InnateDB Protein

IDBP-7438.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GATA4

Protein Name

GATA binding protein 4

Synonyms

ASD2; TACHD; TOF; VSD1;

Species

Homo sapiens

Ensembl Protein

ENSP00000334458

InnateDB Gene

IDBG-7434 (GATA4)

Protein Structure

UniProt Annotation

Function

Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development. 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. Acts as a transcriptional activator of ANF in cooperation with NKX2-5. Promotes cardiac myocyte enlargement. Required during testicular development. {ECO:0000269PubMed:20081228, ECO:0000269PubMed:21220346}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:21220346}.

Disease Associations

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:0000269PubMed:12845333, ECO:0000269PubMed:15810002, ECO:0000269PubMed:17643447, ECO:0000269PubMed:18055909, ECO:0000269PubMed:20347099, ECO:0000269PubMed:20659440}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:18055909, ECO:0000269PubMed:18672102, ECO:0000269PubMed:21110066, ECO:0000269PubMed:21637914, ECO:0000269PubMed:22101736}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:18672102, ECO:0000269PubMed:21110066}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:17643447}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:21220346}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 38 experimentally validated interaction(s) in this database.
They are also associated with 23 interaction(s) predicted by orthology.

Experimentally validated
Total	38 [view]
Protein-Protein	35 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	23 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001076	RNA polymerase II transcription factor binding transcription factor activity
GO:0001158	enhancer sequence-specific DNA binding
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0003713	transcription coactivator activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0008270	zinc ion binding
GO:0033613	activating transcription factor binding
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding
GO:0051525	NFAT protein binding
GO:0070410	co-SMAD binding

Biological Process

GO:0001701	in utero embryonic development
GO:0001702	gastrulation with mouth forming second
GO:0001706	endoderm formation
GO:0001947	heart looping
GO:0003181	atrioventricular valve morphogenesis
GO:0003197	endocardial cushion development
GO:0003208	cardiac ventricle morphogenesis
GO:0003215	cardiac right ventricle morphogenesis
GO:0003229	ventricular cardiac muscle tissue development
GO:0003281	ventricular septum development
GO:0003289	atrial septum primum morphogenesis
GO:0003290	atrial septum secundum morphogenesis
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0007267	cell-cell signaling
GO:0007283	spermatogenesis
GO:0007492	endoderm development
GO:0007507	heart development
GO:0007596	blood coagulation
GO:0008584	male gonad development
GO:0009612	response to mechanical stimulus
GO:0010468	regulation of gene expression
GO:0010507	negative regulation of autophagy
GO:0010575	positive regulation vascular endothelial growth factor production
GO:0014898	cardiac muscle hypertrophy in response to stress
GO:0023019	signal transduction involved in regulation of gene expression
GO:0030509	BMP signaling pathway
GO:0030513	positive regulation of BMP signaling pathway
GO:0035050	embryonic heart tube development
GO:0035054	embryonic heart tube anterior/posterior pattern specification
GO:0035239	tube morphogenesis
GO:0042493	response to drug
GO:0043627	response to estrogen
GO:0045087	innate immune response (InnateDB)
GO:0045766	positive regulation of angiogenesis
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048557	embryonic digestive tract morphogenesis
GO:0048598	embryonic morphogenesis
GO:0048617	embryonic foregut morphogenesis
GO:0048738	cardiac muscle tissue development
GO:0051891	positive regulation of cardioblast differentiation
GO:0055007	cardiac muscle cell differentiation
GO:0060008	Sertoli cell differentiation
GO:0060043	regulation of cardiac muscle cell proliferation
GO:0060045	positive regulation of cardiac muscle cell proliferation
GO:0060070	canonical Wnt signaling pathway
GO:0060290	transdifferentiation
GO:0060395	SMAD protein signal transduction
GO:0060413	atrial septum morphogenesis
GO:0060464	lung lobe formation
GO:0060575	intestinal epithelial cell differentiation
GO:0061049	cell growth involved in cardiac muscle cell development
GO:0071333	cellular response to glucose stimulus
GO:0071371	cellular response to gonadotropin stimulus
GO:0071372	cellular response to follicle-stimulating hormone stimulus
GO:0072148	epithelial cell fate commitment
GO:0072520	seminiferous tubule development
GO:0086004	regulation of cardiac muscle cell contraction