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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GATA4 Gene

protein-coding GIFtS: 67
GCID: GC08P011599

GATA binding protein 4

(Previous name: GATA-binding protein 4 )

Explore 50 diseases affiliated with
GATA4 via

MalaCards

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
GATA Binding Protein 4¹ ²
GATA-Binding Factor 4² ³
GATA-Binding Protein 4¹
ASD2²
VSD1²
Transcription Factor GATA-4²

External Ids:	HGNC: 4173¹	Entrez Gene: 2626²	Ensembl: ENSG00000136574⁷	OMIM: 600576⁵	UniProtKB: P43694³

Export aliases for GATA4 gene to outside databases

Previous GC identifers: GC08P011628 GC08P011554 GC08P011405 GC08P010492

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GATA4:

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. Mutations in this gene have been associated with cardiac

septal defects. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: GATA4_HUMAN, P43694

Function: Transcriptional activator. Binds to the consensus sequence 5'-AGATAG-3'. Acts as a transcriptional activator

of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement

Gene Wiki entry for GATA4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_077531.4

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GATA4 gene promoter:
E2F-4 PPAR-alpha C/EBPbeta E2F MyoD Sox9 Nkx2-5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GATA4 promoter sequence

Search SABiosciences Chromatin IP Primers for GATA4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GATA4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p23.1-p22 Ensembl cytogenetic band: 8p23.1 HGNC cytogenetic band: 8p23.1-p22

GATA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GATA4 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P011599: view genomic region (about GC identifiers)

Start:	11,534,468 bp from pter	End:	11,617,511 bp from pter
Size:	83,044 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GATA4_HUMAN, P43694 (See protein sequence)

Recommended Name: Transcription factor GATA-4

Size: 442 amino acids; 44565 Da

Subunit: Interacts with ZNF260 (By similarity). Interacts with the homeobox domain of NKX2-5 through its C-terminal

zinc finger. Also interacts with JARID2 which represses its ability to activate transcription of ANF. Interacts with

NFATC4 and LMCD1 (By similarity). Forms a complex made of CDK9, CCNT1/cyclin-T1, EP300 and GATA4 that stimulates

hypertrophy in cardiomyocytes

Subcellular location: Nucleus

Secondary accessions: B7ZKX0 Q3MJ45 Q5IFM8

Explore the universe of human proteins at neXtProt for GATA4: NX_P43694

Post-translational modifications:

Methylation at Lys-300 attenuates transcriptional activity (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P43694

GATA4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002043.2

ENSEMBL proteins:

ENSP00000435043 ENSP00000435347 ENSP00000334458 ENSP00000432278 ENSP00000435712

Reactome Protein details: P43694
Human Recombinant Protein Products for GATA4:

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	Novus Biologicals GATA4 Protein Novus Biologicals GATA4 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for GATA4

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	NAS	12845333
GO:0005654	nucleoplasm	TAS	--

GATA4 for ontologies About GeneDecksing

GATA4 Antibody Products:

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	GenScript Custom Superior Antibodies Services for GATA4
	Novus Biologicals GATA4 Antibodies
	Abcam antibodies for GATA4
	Uscn Antibodies for GATA4
	ThermoFisher Antibodies for GATA4

Assay Products for GATA4:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems Multiplex/Array Assay Kits & Reagents for GATA4 (GATA-4) (see all)
	GenScript Custom Assay Services for GATA4
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for GATA4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GATA4 for domains About GeneDecksing

4 InterPro domains/families:

IPR000679 Znf_GATA

IPR016375 TF_GATA_4/5/6

IPR013088 Znf_NHR/GATA

IPR008013 GATA_N

Graphical View of Domain Structure for InterPro Entry P43694

ProtoNet protein and cluster: P43694

2 Blocks protein families:

IPB000679 Zn-finger

IPB008013 GATA-type transcription activator

UniProtKB/Swiss-Prot: GATA4_HUMAN, P43694

Similarity: Contains 2 GATA-type zinc fingers

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: GATA4_HUMAN, P43694

Function: Transcriptional activator. Binds to the consensus sequence 5'-AGATAG-3'. Acts as a transcriptional activator

of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement

Genatlas biochemistry entry for GATA4:

transcription factor,GATA sequence binding protein,involved in lineage determination,expressed in heart,gut,primitive

endoderm,gonads,maybe involvedd in heart defects in patients with a deletion del8 (p213)

Gene Ontology (GO): 5/17 molecular function terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IEA	--
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity	--	--
GO:0001076	RNA polymerase II transcription factor binding transcription factor activity	IDA	--
GO:0001158	enhancer sequence-specific DNA binding	IEA	--
GO:0003677	DNA binding	ISS	--

GATA4 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for GATA4:

Increased G2M DNA content

15/18 MGI mutant phenotypes (inferred from 15 alleles) (MGI details for Gata4) (see all 18):

cardiovascular system	cellular	digestive/alimentary	embryogenesis	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	integument	liver/biliary system
mortality/aging	muscle	nervous system	no phenotypic analysis	normal

GATA4 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for GATA4: Gata4^tm1Jml Gata4^tm1.2Sad Gata4^tm1Eno Gata4^tm1.2Wtp

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GATA4

miRNA Products:		miRTarBase miRNAs that target GATA4: hsa-mir-200b (MIRT004008), hsa-mir-1 (MIRT000393)

		OriGene 3'-UTR Clone: GATA4 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GATA4
		8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate GATA4 (see all 30):
		hsa-miR-429 hsa-miR-548v hsa-miR-575 hsa-miR-221 hsa-miR-1297 hsa-miR-499-5p hsa-miR-208a hsa-miR-208b

		SwitchGear 3'UTR luciferase reporter plasmid: GATA4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GATA4 (see all 7) OriGene shRNA RFP: GATA4 OriGene siRNA: GATA4
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		Sirion Biotech Custom design and validation of potent shRNA sequences against GATA4

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for GATA4
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GATA4 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GATA4 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: GATA4 (NM_002052)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GATA4
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GATA4

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for GATA4
		Search LifeMap BioReagents cell lines for GATA4
		Sirion Biotech Customized stable knockdown cell line services for GATA4 Sirion Biotech Customized inducible knockdown cell line services for GATA4 Sirion Biotech Customized stable overexpressing cell line services for GATA4 Sirion Biotech Customized inducible overexpressing cell line services for GATA4

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GATA4

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

NFAT and Cardiac Hypertrophy

NFAT and Cardiac Hypertrophy

1.00

Signaling Involved in Cardiac Hypertrophy

0.42

Development_Endothelin-1/EDNRA transactivation of EGFR

Development Endothelin-1/EDNRA signaling

0.41

Development_Endothelin-1/EDNRA signaling

0.41

Factors involved in megakaryocyte development and platelet production

Factors involved in megakaryocyte development and platelet production

1.00

Transcription factors in neurogenesis

Transcription factors in neurogenesis

1.00

Cardiomyocyte Differentiation through BMP Receptors

Cardiomyocyte Differentiation through BMP Receptors

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for GATA4

	Transcription factors in neurogenesis
	Development Endothelin-1/EDNRA signaling

5/9 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GATA4 (see all 9)

	Factors Promoting Cardiogenesis in Vertebrates
	NFAT and Cardiac Hypertrophy
	Signaling Involved in Cardiac Hypertrophy
	Thrombin Signaling
	BMP Pathway

1 GeneGo (Thomson Reuters) Pathway for GATA4

Development Endothelin-1/EDNRA signaling

5 BioSystems Pathways for GATA4

	Heart Development
	Adipogenesis
	MicroRNAs in cardiomyocyte hypertrophy
	Serotonin Receptor 2 and ELK-SRF/GATA4 signaling
	Notch-mediated HES/HEY network

2 Reactome Pathways for GATA4

	Hemostasis
	Factors involved in megakaryocyte development and platelet production

GATA4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GATA4

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/54 Interacting proteins for GATA4 (P43694^{2, 3} ENSP00000334458⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 54)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KLF13	Q9Y2Y9²^,³, ENSP00000302456⁴	MINT-3379492 MINT-3379533 MINT-3379514 I2D: score=1 STRING: ENSP00000302456
MED1	Q15648³, ENSP00000300651⁴	I2D: score=5 STRING: ENSP00000300651
NKX2-5	P52952³, ENSP00000327758⁴	I2D: score=5 STRING: ENSP00000327758
JARID2	Q92833³, ENSP00000341280⁴	I2D: score=4 STRING: ENSP00000341280
SRF	P11831³, ENSP00000265354⁴	I2D: score=3 STRING: ENSP00000265354

About this table

Gene Ontology (GO): 5/56 biological process terms (GO ID links to tree view) (see all 56): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001701	in utero embryonic development	IEA	--
GO:0001702	gastrulation with mouth forming second	IEA	--
GO:0001706	endoderm formation	IEA	--
GO:0001947	heart looping	ISS	--
GO:0003181	atrioventricular valve morphogenesis	IEA	--

GATA4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GATA4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GATA4
10/25 Novoseek chemical compound relationships for GATA4 gene (see all 25) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
azathioprine	51.9	3	19253817 (1), 19246878 (1)
zinc	51.7	35	11842118 (4), 17290010 (2), 9312027 (1), 12439631 (1) (see all 23)
5-aza-2'deoxycytidine	46.9	3	16607277 (1), 16823849 (1), 14988427 (1)
retinoic acid	35.3	10	18439490 (3), 10677255 (1), 11518699 (1), 15542856 (1) (see all 7)
vitamin a	20.1	2	10677255 (1), 9986733 (1)
retinoid	17	1	9986733 (1)
glycogen	14.5	1	11382772 (1)
dmso	11.1	4	16508137 (1), 16960874 (1), 19785986 (1)
testosterone	9.83	5	11061558 (2), 14681544 (1), 11097782 (1), 18212046 (1)
doxorubicin	3.53	4	16449733 (2), 18083897 (1), 17334414 (1)

Search CenterWatch for drugs/clinical trials and news about GATA4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GATA4 gene:

NM_002052.3

Unigene Cluster for GATA4:

GATA binding protein 4

Hs.243987 [show with all ESTs]

Unigene Representative Sequence: NM_002052

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000528712(uc003wub.1) ENST00000532977 ENST00000526974 ENST00000526716

ENST00000335135(uc011kxb.1 uc010lrz.1 uc003wuc.2 uc011kxc.1)

ENST00000528027 ENST00000532059 ENST00000526021

miRNA Products:		OriGene 3'-UTR Clone: GATA4 Browse OriGene MicroRNA Expression Plasmids
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		8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate GATA4 (see all 30):
		hsa-miR-429 hsa-miR-548v hsa-miR-575 hsa-miR-221 hsa-miR-1297 hsa-miR-499-5p hsa-miR-208a hsa-miR-208b

		SwitchGear 3'UTR luciferase reporter plasmid: GATA4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: GATA4 (NM_002052)
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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat GATA4
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GATA4
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GATA4

Additional cDNA sequence:

AF180736.1 AF318320.1 AK097060.1 AY740706.1 BC033672.1 BC068079.1 BC101580.1 BC105108.1

BC143434.1 BC143479.1 D78260.1 FJ169610.1 L34357.1

4 DOTS entries:

DT.97840387 DT.452800 DT.306804 DT.95371365

24/105 AceView cDNA sequences (see all 105):

AI218020 AI809988 BF058124 AI218830 BM931880 BE502232 CA776901 BC033672

BE672057 BQ685606 AW087784 BF513628 NM_002052 AI187315 CR609988 BF058235

AW181962 BM560562 BQ439274 BF058059 BF196317 AF318320 BG211220 BU194442

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GATA4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGACTCCTT

About this image

GATA4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/38 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 38)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Valves

Atrioventricular Valve Cells

Selective marker (cell-identifying gene)

Endocardium, Myocardium

Heart

Cardiac Crescent

Cardiac Crescent Cells

Myocardium

Myocardium

Myocardium

Myocardium

Cardiomyocytes Progenitor Cells

Myocardium

Myocardium

Myocardium

Extraembryonic Tissues

Lateral Plate Mesoderm

Cardiogenic Mesoderm

Pre-myocardial Cells

Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/19 LifeMap Cells (see all 19)

Name

Category

Extra-embryonic endoderm cells (Fetal Stem / Progenitor Cell)

Extraembryonic Tissues

Primitive Streak Mesendoderm cells (Direct differentiati...)

Endoderm progenitor-like cells (Generation and expan...)

Primitive gut tube-like cells (A scalable, suspensi...)

Definitive endoderm-like cells (A scalable, suspensi...)

Extraembryonic endoderm-like cells (Generation of extrae...)

Beating embryoid bodies (Cardiac differentiat...)

BMP4-induced embryoid bodies (Cardiac differentiat...)

Cardiomyocyte-like cells (Spontaneous differen...)

Endoderm-like cells (Functional hepatocyt...)

See GATA4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GATA4

SOURCE GeneReport for Unigene cluster: Hs.243987

SABiosciences Expression via Pathway-Focused PCR Arrays including GATA4:

Polycomb & Trithorax Target Genes in human mouse rat

Embryonic Stem Cells in human mouse rat

T Helper Cell Differentiation in human mouse rat

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat GATA4
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GATA4
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GATA4

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GATA4

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for GATA4 gene from 5/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GATA4¹	GATA binding protein 4	72.69(n) 75(a)		396392 XM_420041.1 XP_420041.1
lizard (Anolis carolinensis)	Reptilia	GATA4⁶	--	63(a)	1 ↔ 1	GL343704.1(169209-229380)
African clawed frog (Xenopus laevis)	Amphibia	Xl.1061²	Xenopus laevis transcription factor xGATA-4 mRNA, complete more	75.1(n)		U45453.1
zebrafish (Danio rerio)	Actinopterygii	gata4²	GATA-binding protein 4	75.88(n)		30483 AF191577.1
fruit fly (Drosophila melanogaster)	Insecta	grn³	histogenesis RNA polymerase II transcription factor	80(a) (best of 2)		3 84F1 --

ENSEMBL Gene Tree for GATA4 (if available)
TreeFam Gene Tree for GATA4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GATA4 gene

GATA6² GATA3² GATA2² GATA1² GATA5²

7 SIMAP similar genes for GATA4 using alignment to 18 protein entries: GATA4_HUMAN (see all proteins):

pp10443 GATA1 GATA5 GATA6 GATA2 GATA3

GATA-4

GATA4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs56208331^1,2	C	pathogenic	11429662(+)	`AGCAGG/AACTCT`	2	/N /D	mis¹		1		NA	214
rs56298569^1,2	C	pathogenic	11432999(+)	`GGATCC/GAAACC`	2	Q E	mis¹		0	--	--	--	--
rs104894073^1,2	C	pathogenic	11437868(+)	`CCTGCA/GGCCTC`	2	S G	mis¹		0	--	--	--	--
rs104894074^1,2	C	pathogenic	11479609(+)	`CCTGTC/TCTACC`	2	S F	mis¹		0	--	--	--	--
rs60419043^1,2	C	--	10490824(+)	`CGGGTA/GGCGCT`	1	--	us2k¹		2		WA	120
rs78784656^1,2	C	--	10491025(+)	`CGCTGA/CGTCCG`	1	--	us2k¹		2		WA	120
rs74319135^1,2	F	--	10491117(+)	`TAAGTT/CCCCAC`	1	--	us2k¹		1		WA	118
rs73203480^1,2	C	--	10491133(+)	`GGGTCC/AGTGGC`	1	--	us2k¹		2		NA	122
rs112718516^1,2	C	--	10491922(+)	`CTCCAT/CGAAGA`	1	--	us2k¹		2		NA	122
rs73537869^1,2	C	--	10492009(+)	`AAAAAG/AGGGGA`	1	--	us2k¹		2		WA	120

HapMap Linkage Disequilibrium report for GATA4 (11534468 - 11617511 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 17 variations for GATA4
1 Indel: 10904
15/16 Inversions (see all 16): 37318 37316 37307 37317 37311 37319 37320 37315 37312 37321 37304 37313 37314 37305 37306
Human Gene Mutation Database (HGMD): GATA4

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing GATA4:

Birth Defects

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GATA4

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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GATA4 for disorders           About GeneDecksing

OMIM gene information: 600576
OMIM disorders: 607941
UniProtKB/Swiss-Prot: GATA4_HUMAN, P43694

Defects in GATA4 are the cause of atrial septal defect type 2 (ASD2) [MIM:607941]. ASD2 is 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. ASD2 patients show other heart abnormalities including ventricular and atrioventricular septal

defects, pulmonary valve thickening or insufficiency of the cardiac valves. ASD2 is not associated with defects in the

cardiac conduction system or non-cardiac abnormalities

Defects in GATA4 are a cause of ventricular septal defect type 1 (VSD1) [MIM:614429]. VSD1 is 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

Defects in GATA4 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is 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

Defects in GATA4 are the cause of atrioventricular septal defect type 4 (AVSD4) [MIM:614430]. 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

20/50 diseases for GATA4 (see all 50): About MalaCards

double outlet right ventricle noncompaction of left ventricular myocardium atrioventricular septal defect atrial septal defect-2

ventricular septal defect diffuse large b-cell lymphoma doxorubicin induced cardiomyopathy transposition of great arteries

ebstein anomaly congenital diaphragmatic hernia b-cell lymphomas sex reversal

tumors of adrenal cortex germ cell tumor congenital heart defect ovarian germ cell tumor

tetralogy of fallot atrial fibrillation pancreatic ductal adenocarcinoma coronary heart disease

5 diseases from the University of Copenhagen DISEASES database for GATA4:

Congenital heart defect Heart disease Pyromania Congenital diaphragmatic hernia

Embryonal carcinoma

10/35 Novoseek disease relationships for GATA4 gene (see all 35) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
septal defect	63.7	21	12845333 (4), 19915893 (4), 19781215 (4), 18055909 (3) (see all 8)
cardiac hypertrophy	60.1	15	15249177 (2), 18005871 (1), 18036354 (1), 14761664 (1) (see all 11)
heart defects congenital	57.2	10	16604480 (2), 16077733 (1), 18305343 (1), 10096597 (1) (see all 8)
adrenal tumor	53.3	7	15256532 (2), 14666170 (2), 17207921 (1), 10449810 (1) (see all 5)
congenital heart disease	52	21	10096597 (6), 17592645 (2), 18672102 (2), 15249177 (1) (see all 13)
atrial septal defects	51.7	18	19678963 (4), 18305343 (2), 14557051 (2), 15810002 (2) (see all 9)
ventricular septal defects	49.6	3	19915893 (1), 19302747 (1)
hypertrophy	48.4	9	11739382 (2), 15220332 (1), 15574430 (1), 18204489 (1) (see all 8)
atrioventricular septal defect	43.3	1	17592645 (1)
cardiomyopathy	36.5	3	10677255 (1), 17643447 (1), 12231398 (1)

Human Genome Epidemiology (HuGE) Navigator: GATA4 (25 documents)

Export disorders for GATA4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for GATA4 gene, integrated from 9 sources (see all 390):
(articles sorted by number of sources associating them with GATA4)

Utopia: connect your pdf to the dynamic
world of online information

Spectrum of heart disease associated with murine and human GATA4 mutation. (PubMed id 17643447)^{1, 2, 9} Rajagopal S.K....Pu W.T. (2007)
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. (PubMed id 12845333)^{1, 2, 9} Garg V.... Srivastava D. (2003)
GATA4 mutations in 486 Chinese patients with congenital heart disease. (PubMed id 18672102)^{1, 2, 9} Zhang W....Li Z. (2008)
GATA4 sequence variants in patients with congenital heart disease. (PubMed id 18055909)^{1, 2, 9} Tomita-Mitchell A....Goldmuntz E. (2007)
Assignment of the transcription factor GATA4 gene to human chromosome 8 and mouse chromosome 14: Gata4 is a candidate gene for Ds (disorganization). (PubMed id 7665171)^{1, 3, 9} White R.A....Wilson D.B. (1995)
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. (PubMed id 15810002)^{1, 2, 9} Hirayama-Yamada K....Matsuoka R. (2005)
Identification of a GATA motif in the cardiac alpha-myosin heavy- chain-encoding gene and isolation of a human GATA-4 cDNA. (PubMed id 7721094)^{1, 2, 9} Huang W.Y.... Liew C.C. (1995)
Cyclin-dependent kinase-9 is a component of the p300/ GATA4 complex required for phenylephrine-induced hypertrophy in cardiomyocytes. (PubMed id 20081228)^{1, 2, 9} Sunagawa Y....Hasegawa K. (2010)
A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect. (PubMed id 22101736)^{1, 2} Yang Y.Q.... Fang W.Y. (2012)
A novel GATA4 mutation responsible for congenital ven tricular septal defects. (PubMed id 21637914)^{1, 2} Wang J....Yang Y.Q. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2626	HGNC: 4173	AceView: GATA4	Ensembl:ENSG00000136574	euGenes: HUgn2626
ECgene: GATA4	H-InvDB: GATA4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GATA4	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GATA4

Intellectual Property for GATA4 gene
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Patent Information for GATA4 gene:
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GeneCards and IP:
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