Gene table of GATA6 : GATA binding protein 6

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GATA6	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
217095	CONOTRUNCAL HEART MALFORMATIONS	OMIM, HUMSAVAR	link to OMIM	6	NKX2-5, TBX1, GATA6, GDF1, NKX2-6, ZFPM2
PS606215	ATRIOVENTRICULAR SEPTAL DEFECT	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	FOXP1, GATA6, GJA1, CRELD1, GATA4
600001	HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GATA6

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Annotation of the gene GATA6

Associated genes in ENSEMBL

ENSG00000141448

Associated proteins - SwissProt Accession ID

Q92908

Associated PDB IDs

Cytogenetic Band

18q11.2

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

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Factors involved in megakaryocyte development and platelet production	R-HSA-983231	5.88
Hemostasis	R-HSA-109582	3.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase II repressing transcription factor binding	GO:0001103	6.44
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
enzyme binding	GO:0019899	2.27
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
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
repressing transcription factor binding	GO:0070491	5.71
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
zinc ion binding	GO:0008270	2.66
ion binding	GO:0043167	1.36
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
cation binding	GO:0043169	1.4
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
RNA polymerase II transcription factor binding	GO:0001085	5.08
transcription regulatory region DNA binding	GO:0044212	3.03
RNA polymerase II core promoter sequence-specific DNA binding	GO:0000979	5.77
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0003705	5.23
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
nucleic acid binding transcription factor activity	GO:0001071	2.65