GATA4
Transcription factor GATA-4
Also known as: GATA4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P43694
- Gene
- GATA4
- Ensembl
- ENSG00000136574
- Chromosome
- 8
- Canonical length
- 442 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nuclear bodies
OverviewNCBI Gene
This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Canonical amino-acid sequenceUniProt
442 residues, UniProt reviewed canonical sequence.
>P43694|GATA4
1 MYQSLAMAAN HGPPPGAYEA GGPGAFMHGA GAASSPVYVP TPRVPSSVLG LSYLQGGGAG
61 SASGGASGGS SGGAASGAGP GTQQGSPGWS QAGADGAAYT PPPVSPRFSF PGTTGSLAAA
121 AAAAAAREAA AYSSGGGAAG AGLAGREQYG RAGFAGSYSS PYPAYMADVG ASWAAAAAAS
181 AGPFDSPVLH SLPGRANPAA RHPNLDMFDD FSEGRECVNC GAMSTPLWRR DGTGHYLCNA
241 CGLYHKMNGI NRPLIKPQRR LSASRRVGLS CANCQTTTTT LWRRNAEGEP VCNACGLYMK
301 LHGVPRPLAM RKEGIQTRKR KPKNLNKSKT PAAPSGSESL PPASGASSNS SNATTSSSEE
361 MRPIKTEPGL SSHYGHSSSV SQTFSVSAMS GHGPSIHPVL SALKLSPQGY ASPVSQSPQT
421 SSKQDSWNSL VLADSHGDII TALocalizationUniProt · AlphaFold · HPA
Whether an antibody against GATA4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.66
- Highest tissue expression
- 85 nTPM
Expression across tissuesHPA
Tissue
- ovary: 85 nTPM
- heart muscle: 80 nTPM
- pancreas: 48 nTPM
- liver: 33 nTPM
- stomach: 31 nTPM
- testis: 30 nTPM
Single-cell type
- granulosa cells: 30 nCPM
- ovarian stromal cells: 24 nCPM
- late spermatids: 23 nCPM
- cardiomyocytes: 18 nCPM
- foveolar cells: 16 nCPM
- gastric progenitor cells: 15 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GATA4.
Disease | AllUniProt
Conditions GATA4 is implicated in, by any mechanism.
- Atrial septal defect 2 (ASD2) MIM:607941
- Ventricular septal defect 1 (VSD1) MIM:614429
- Tetralogy of Fallot (TOF) MIM:187500
- Atrioventricular septal defect 4 (AVSD4) MIM:614430
- Testicular anomalies with or without congenital heart disease (TACHD) MIM:615542
Disease | GeneticClinVar
40 pathogenic / likely-pathogenic of 1,087 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Atrioventricular septal defect 4
- Atrial septal defect 2
- Congenital heart disease
- Testicular anomalies with or without congenital heart disease
- Ventricular septal defect 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.53
- gnomAD pLI
- 0.49
- gnomAD missense Z
- 0.67
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- aortic valve morphogenesis
- atrial septum morphogenesis
- atrial septum primum morphogenesis
- atrial septum secundum morphogenesis
- atrioventricular canal development
- atrioventricular node development
- atrioventricular valve formation
- cardiac muscle tissue regeneration
- cardiac right ventricle morphogenesis
- cardiac ventricle morphogenesis
- cell fate commitment
- cell growth involved in cardiac muscle cell development
- cell-cell signaling
- cellular response to glucose stimulus
- embryonic foregut morphogenesis
- embryonic heart tube anterior/posterior pattern specification
- endocardial cushion development
- endoderm development
- heart looping
- intestinal epithelial cell differentiation
- male gonad development
- negative regulation of apoptotic signaling pathway
- negative regulation of autophagy
- negative regulation of cardiac muscle cell apoptotic process
- negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
- negative regulation of transcription by RNA polymerase II
- positive regulation of angiogenesis
- positive regulation of BMP signaling pathway
- positive regulation of DNA-templated transcription
- positive regulation of transcription by RNA polymerase II
- positive regulation of vascular endothelial growth factor production
- regulation of cardiac muscle cell contraction
- regulation of DNA-templated transcription
- response to mechanical stimulus
- response to vitamin A
- response to xenobiotic stimulus
- transdifferentiation
- ventricular septum development
- wound healing
Molecular functions
- co-SMAD binding
- DNA binding
- DNA-binding transcription activator activity
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- NFAT protein binding
- protein kinase binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- transcription cis-regulatory region binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GATA4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GATA4 as an antibody target. Whether an autoantibody or antibody against GATA4 could matter depends on whether native GATA4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GATA4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GATA4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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