Gene table of GATA4 : GATA binding protein 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GATA4	OMIM link	Number of associated genes	genes
PS108800	ATRIAL SEPTAL DEFECT	ClinVar, OMIM, HUMSAVAR	link to OMIM	8	GATA4, TBX20, NKX2-5, CITED2, GATA6, ACTC1, MYH6, TLL1
187500	TETRALOGY OF FALLOT	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	GATA4, NKX2-5, TBX1, GATA6, ZFPM2, GDF1, JAG1
PS606215	ATRIOVENTRICULAR SEPTAL DEFECT	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	FOXP1, GATA6, GJA1, CRELD1, GATA4
PS614429	VENTRICULAR SEPTAL DEFECT	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	GATA4, NKX2-5, CITED2
615542	TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GATA4

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Annotation of the gene GATA4

Associated genes in ENSEMBL

ENSG00000136574

Associated proteins - SwissProt Accession ID

P43694

Associated PDB IDs

2m9w

Cytogenetic Band

8p23.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
cGMP-PKG signaling pathway	hsa04022	5.32
Thyroid hormone signaling pathway	hsa04919	5.82

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Generic Transcription Pathway	R-HSA-212436	3.86
Gene Expression	R-HSA-74160	2.72
Peptide hormone metabolism	R-HSA-2980736	6.61
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)	R-HSA-400511	9.28
Metabolism of proteins	R-HSA-392499	3.41
YAP1- and WWTR1 (TAZ)-stimulated gene expression	R-HSA-2032785	8.12
Factors involved in megakaryocyte development and platelet production	R-HSA-983231	5.88
Incretin synthesis, secretion, and inactivation	R-HSA-400508	8.46
Hemostasis	R-HSA-109582	3.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
activating transcription factor binding	GO:0033613	5.68
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
cation binding	GO:0043169	1.4
enzyme binding	GO:0019899	2.27
enhancer sequence-specific DNA binding	GO:0001158	5.36
transcription factor activity, RNA polymerase II transcription factor binding	GO:0001076	4.84
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transition metal ion binding	GO:0046914	2.48
transcription coactivator activity	GO:0003713	4.04
transcription cofactor activity	GO:0003712	3.44
ion binding	GO:0043167	1.36
co-SMAD binding	GO:0070410	7.25
transcription factor activity, protein binding	GO:0000988	3.35
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription regulatory region DNA binding	GO:0044212	3.03
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
SMAD binding	GO:0046332	5.45
kinase binding	GO:0019900	3.32
enhancer binding	GO:0035326	5.21
RNA polymerase II transcription factor binding	GO:0001085	5.08
protein kinase binding	GO:0019901	3.44
NFAT protein binding	GO:0051525	8.13
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
nucleic acid binding transcription factor activity	GO:0001071	2.65
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
chromatin binding	GO:0003682	3.64
zinc ion binding	GO:0008270	2.66