• Gene id: 2626

Gene Summary

• Gene Symbol: GATA4   Gene   UCSC   Ensembl
• Aliases: ASD2, TACHD, TOF, VSD1
• Gene name: GATA binding protein 4
• Alternate names: transcription factor GATA-4, GATA-binding factor 4,
• Gene location: 8p23.1 (11676918: 11760001)     Exons: 11     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 600576

Protein Summary

• Protein general information: P43694  
  • Name: Transcription factor GATA 4 (GATA binding factor 4)
  • Length: 442  
  • Mass: 44,565
• Sequence:

  MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGSSGGAA
  SGAGPGTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYG
  RAGFAGSYSSPYPAYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLDMFDDFSEGRECVNCGAMST
  PLWRRDGTGHYLCNACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMK
  LHGVPRPLAMRKEGIQTRKRKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYG
  HSSSVSQTFSVSAMSGHGPSIHPVLSALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA

• Structural information:
  • Interpro: IPR008013  IPR016375  IPR000679  IPR013088  
  • Prosite: PS00344 PS50114
  • PDB: 2M9W
  • PDBsum: 2M9W
  • STRING: ENSP00000334458
• Other Databases: GeneCards:  GATA4  Malacards:  GATA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001076	transcription factor activity, RNA polymerase II transcription factor binding	IDA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IBA	molecular function
GO:0001158	enhancer sequence-specific DNA binding	IEA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IBA	molecular function
GO:0001947	heart looping	ISS	biological process
GO:0003197	endocardial cushion development	ISS	biological process
GO:0003197	endocardial cushion development	IMP	biological process
GO:0003208	cardiac ventricle morphogenesis	TAS	biological process
GO:0003215	cardiac right ventricle morphogenesis	ISS	biological process
GO:0003281	ventricular septum development	ISS	biological process
GO:0003289	atrial septum primum morphogenesis	ISS	biological process
GO:0003290	atrial septum secundum morphogenesis	IMP	biological process
GO:0003677	DNA binding	ISS	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0006366	transcription from RNA polymerase II promoter	ISS	biological process
GO:0006366	transcription from RNA polymerase II promoter	ISS	biological process
GO:0007267	cell-cell signaling	ISS	biological process
GO:0007492	endoderm development	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008584	male gonad development	IEP	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0010507	negative regulation of autophagy	IEA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	ISS	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0033189	response to vitamin A	IEA	biological process
GO:0033613	activating transcription factor binding	ISS	molecular function
GO:0035054	embryonic heart tube anterior/posterior pattern specification	ISS	biological process
GO:0042493	response to drug	IMP	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045165	cell fate commitment	IBA	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048468	cell development	IBA	biological process
GO:0048617	embryonic foregut morphogenesis	ISS	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IBA	biological process
GO:0051525	NFAT protein binding	IEA	molecular function
GO:0051891	positive regulation of cardioblast differentiation	ISS	biological process
GO:0060290	transdifferentiation	IEA	biological process
GO:0060413	atrial septum morphogenesis	IMP	biological process
GO:0060575	intestinal epithelial cell differentiation	IDA	biological process
GO:0061049	cell growth involved in cardiac muscle cell development	IEA	biological process
GO:0070410	co-SMAD binding	IPI	molecular function
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0086004	regulation of cardiac muscle cell contraction	IEA	biological process
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0001076	transcription factor activity, RNA polymerase II transcription factor binding	IDA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IBA	molecular function
GO:0001158	enhancer sequence-specific DNA binding	IEA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IBA	molecular function
GO:0001947	heart looping	ISS	biological process
GO:0003197	endocardial cushion development	ISS	biological process
GO:0003197	endocardial cushion development	IMP	biological process
GO:0003208	cardiac ventricle morphogenesis	TAS	biological process
GO:0003215	cardiac right ventricle morphogenesis	ISS	biological process
GO:0003281	ventricular septum development	ISS	biological process
GO:0003289	atrial septum primum morphogenesis	ISS	biological process
GO:0003290	atrial septum secundum morphogenesis	IMP	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	ISS	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	ISS	biological process
GO:0006366	transcription from RNA polymerase II promoter	ISS	biological process
GO:0007267	cell-cell signaling	ISS	biological process
GO:0007492	endoderm development	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008584	male gonad development	IEP	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0010507	negative regulation of autophagy	IEA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	ISS	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0033189	response to vitamin A	IEA	biological process
GO:0033613	activating transcription factor binding	IEA	molecular function
GO:0033613	activating transcription factor binding	ISS	molecular function
GO:0035054	embryonic heart tube anterior/posterior pattern specification	ISS	biological process
GO:0042493	response to drug	IMP	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0044212	transcription regulatory region DNA binding	IEA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045165	cell fate commitment	IBA	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048468	cell development	IBA	biological process
GO:0048617	embryonic foregut morphogenesis	ISS	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IBA	biological process
GO:0051525	NFAT protein binding	IEA	molecular function
GO:0051891	positive regulation of cardioblast differentiation	ISS	biological process
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0060290	transdifferentiation	IEA	biological process
GO:0060413	atrial septum morphogenesis	IMP	biological process
GO:0060575	intestinal epithelial cell differentiation	IDA	biological process
GO:0061049	cell growth involved in cardiac muscle cell development	IEA	biological process
GO:0070410	co-SMAD binding	IPI	molecular function
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0086004	regulation of cardiac muscle cell contraction	IEA	biological process
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001076	transcription factor activity, RNA polymerase II transcription factor binding	IDA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IBA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IBA	molecular function
GO:0001947	heart looping	ISS	biological process
GO:0003197	endocardial cushion development	ISS	biological process
GO:0003197	endocardial cushion development	IMP	biological process
GO:0003208	cardiac ventricle morphogenesis	TAS	biological process
GO:0003215	cardiac right ventricle morphogenesis	ISS	biological process
GO:0003281	ventricular septum development	ISS	biological process
GO:0003289	atrial septum primum morphogenesis	ISS	biological process
GO:0003290	atrial septum secundum morphogenesis	IMP	biological process
GO:0003677	DNA binding	ISS	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0006366	transcription from RNA polymerase II promoter	ISS	biological process
GO:0006366	transcription from RNA polymerase II promoter	ISS	biological process
GO:0007267	cell-cell signaling	ISS	biological process
GO:0007492	endoderm development	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008584	male gonad development	IEP	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	ISS	biological process
GO:0033613	activating transcription factor binding	ISS	molecular function
GO:0035054	embryonic heart tube anterior/posterior pattern specification	ISS	biological process
GO:0042493	response to drug	IMP	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045165	cell fate commitment	IBA	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048468	cell development	IBA	biological process
GO:0048617	embryonic foregut morphogenesis	ISS	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IBA	biological process
GO:0051891	positive regulation of cardioblast differentiation	ISS	biological process
GO:0060413	atrial septum morphogenesis	IMP	biological process
GO:0060575	intestinal epithelial cell differentiation	IDA	biological process
GO:0070410	co-SMAD binding	IPI	molecular function
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04022	cGMP-PKG signaling pathway
hsa04218	Cellular senescence
hsa04530	Tight junction
hsa04919	Thyroid hormone signaling pathway

Diseases

Associated diseases	References
Atrial fibrillation	GAD: 20363377
Cardiovascular disease	GAD: 17253934
Heart disease	GAD: 19302747
Ventricular septal defect	OMIM: 600576
Atrial septal defect	KEGG: H00546
Atrioventricular septal defect	KEGG: H00547
Congenital abnormalities	GAD: 20592452
Tetralogy of Fallot	OMIM: 600576
Testicular anomalies with or without congenital heart disease	MIK: 600576
Testicular developmental defects	MIK: 21220346
Sex reversal	MIK: 12907682
46, XY disorder of sex development	MIK: 21220346
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Role in the maturation and function of testicular somatic cells	MIK: 10067876
Sex reversal	MIK: 12907682
Teratozoospermia	MIK: 17327269
Testicular development	MIK: 21220346
46,XY DSD	MIK: 21220346
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21220346	Testicular development, 46,XY DSD	p.Gly221Arg		700 (250 newborns has some abnormality of genital and/or gonadal development, 450 ancestry-matched control individuals)	Male infertility
12907682	Sex reversal	G35E			Male infertility, Female infertility
10067876	Role in the maturation and function of testicular somatic cells				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray