Entity Details

Primary name GATA4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP43694
EntryNameGATA4_HUMAN
FullNameTranscription factor GATA-4
TaxID9606
Evidenceevidence at protein level
Length442
SequenceStatuscomplete
DateCreated1995-11-01
DateModified2021-06-02

Ontological Relatives

GenesGATA4

GO terms

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GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001216 DNA-binding transcription activator activity
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001947 heart looping
GO:0003162 atrioventricular node development
GO:0003180 aortic valve morphogenesis
GO:0003190 atrioventricular valve formation
GO:0003197 endocardial cushion development
GO:0003208 cardiac ventricle morphogenesis
GO:0003215 cardiac right ventricle morphogenesis
GO:0003281 ventricular septum development
GO:0003289 atrial septum primum morphogenesis
GO:0003290 atrial septum secundum morphogenesis
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007267 cell-cell signaling
GO:0007492 endoderm development
GO:0007596 blood coagulation
GO:0008134 transcription factor binding
GO:0008270 zinc ion binding
GO:0008584 male gonad development
GO:0009612 response to mechanical stimulus
GO:0010507 negative regulation of autophagy
GO:0010575 positive regulation of vascular endothelial growth factor production
GO:0010667 negative regulation of cardiac muscle cell apoptotic process
GO:0016604 nuclear body
GO:0019901 protein kinase binding
GO:0030513 positive regulation of BMP signaling pathway
GO:0033189 response to vitamin A
GO:0035054 embryonic heart tube anterior/posterior pattern specification
GO:0036302 atrioventricular canal development
GO:0042060 wound healing
GO:0042493 response to drug
GO:0043565 sequence-specific DNA binding
GO:0045165 cell fate commitment
GO:0045766 positive regulation of angiogenesis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048617 embryonic foregut morphogenesis
GO:0051525 NFAT protein binding
GO:0051891 positive regulation of cardioblast differentiation
GO:0051896 regulation of protein kinase B signaling
GO:0060290 transdifferentiation
GO:0060413 atrial septum morphogenesis
GO:0060575 intestinal epithelial cell differentiation
GO:0061026 cardiac muscle tissue regeneration
GO:0061049 cell growth involved in cardiac muscle cell development
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0070410 co-SMAD binding
GO:0071333 cellular response to glucose stimulus
GO:0086004 regulation of cardiac muscle cell contraction
GO:0090575 RNA polymerase II transcription regulator complex
GO:1903202 negative regulation of oxidative stress-induced cell death
GO:1990837 sequence-specific double-stranded DNA binding
GO:2001234 negative regulation of apoptotic signaling pathway

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000679 Zinc finger, GATA-typeDomainDomain
IPR008013 GATA-type transcription activator, N-terminalDomainDomain
IPR013088 Zinc finger, NHR/GATA-typeFamilyHomologous superfamily
IPR016375 Transcription factor GATA-4/5/6FamilyFamily
IPR039355 Transcription factor GATAFamilyFamily

Diseases

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Disease IDSourceNameDescription
614430 OMIMAtrioventricular septal defect 4 (AVSD4)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. The disease is caused by variants affecting the gene represented in this entry.
607941 OMIMAtrial septal defect 2 (ASD2)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. The disease is caused by variants affecting the gene represented in this entry.
615542 OMIMTesticular anomalies with or without congenital heart disease (TACHD)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. The disease is caused by variants affecting the gene represented in this entry.
187500 OMIMTetralogy 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. The disease is caused by variants affecting the gene represented in this entry.
614429 OMIMVentricular septal defect 1 (VSD1)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

30 interactions

InteractorPartnerSourcesPublicationsLink
GATA4_HUMANNKX25_HUMANBioGRID, HPRD, IntAct10075728 10948187 12845333 15542826 9312027 details
GATA4_HUMANALX4_HUMANBioGRID, IntAct20211142 details
GATA4_HUMANZBTB3_HUMANIntAct20211142 details
GATA4_HUMANMDC1_HUMANBioGRID14578343 details
GATA4_HUMANHAND2_HUMANBioGRID, HPRD11994297 details
GATA4_HUMANSTF1_HUMANBioGRID, HPRD10446911 details
GATA4_HUMANFOG2_HUMANBioGRID, HPRD10801815 11297508 18252717 9927675 details
GATA4_HUMANSRF_HUMANBioGRID, HPRD11003651 11158291 details
GATA4_HUMANMK01_HUMANBioGRID11585926 details
GATA4_HUMANID1_HUMANBioGRID16556596 details
GATA4_HUMANID2_HUMANBioGRID16556596 details
GATA4_HUMANID3_HUMANBioGRID16556596 details
GATA4_HUMANEP300_HUMANBioGRID, HPRD11481322 18252717 27208796 details
GATA4_HUMANSP1_HUMANBioGRID14988427 21184844 details
GATA4_HUMANJARD2_HUMANBioGRID, HPRD15542826 22215809 details
GATA4_HUMANRACK1_HUMANBioGRID27208796 details
GATA4_HUMANNFAC4_HUMANHPRD9568714 details
GATA4_HUMANKLF13_HUMANMINT17053787 details
GATA4_HUMANEZH2_HUMANBioGRID, IntAct22094255 22215809 details
GATA4_HUMANTBX5_HUMANBioGRID, HPRD12845333 details
GATA4_HUMANHDAC2_HUMANBioGRID20833366 details
GATA4_HUMANEZH1_HUMANBioGRID22215809 details
GATA4_HUMANSUZ12_HUMANBioGRID22215809 details
GATA4_HUMANKDM6A_HUMANBioGRID22192413 details
GATA4_HUMANMEF2C_HUMANHPRD10790371 details
GATA4_HUMANCRIP2_HUMANHPRD12530967 details
GATA4_HUMANMK03_HUMANHPRD11585926 details
GATA4_HUMANMED1_HUMANHPRD11724781 details
GATA4_HUMANPIAS1_HUMANHPRD15337742 details
GATA4_HUMANFOS_HUMANHPRD9207128 details