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Aliases for GATA4 Gene

Aliases for GATA4 Gene

  • GATA Binding Protein 4 2 3 5
  • GATA-Binding Factor 4 3 4
  • Transcription Factor GATA-4 3
  • GATA-Binding Protein 4 2
  • TACHD 3
  • VSD1 3
  • ASD2 3
  • TOF 3

External Ids for GATA4 Gene

Previous GeneCards Identifiers for GATA4 Gene

  • GC08P011628
  • GC08P011554
  • GC08P011405
  • GC08P011599
  • GC08P010492

Summaries for GATA4 Gene

Entrez Gene Summary for GATA4 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]

GeneCards Summary for GATA4 Gene

GATA4 (GATA Binding Protein 4) is a Protein Coding gene. Diseases associated with GATA4 include Atrial Septal Defect 2 and Ventricular Septal Defect 1. Among its related pathways are DREAM Repression and Dynorphin Expression and Cardiac conduction. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is GATA6.

UniProtKB/Swiss-Prot for GATA4 Gene

  • Transcriptional activator that binds to the consensus sequence 5-AGATAG-3 and plays a key role in cardiac development (PubMed:24000169). Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement (PubMed:20081228). Required during testicular development (PubMed:21220346). May play a role in sphingolipid signaling by regulating the expression of sphingosine-1-phosphate degrading enzyme, spingosine-1-phosphate lyase (PubMed:15734735).

Gene Wiki entry for GATA4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GATA4 Gene

Genomics for GATA4 Gene

Regulatory Elements for GATA4 Gene

Enhancers for GATA4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F011696 2.2 VISTA FANTOM5 Ensembl ENCODE 26.1 +32.5 32517 25.1 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GATA4 RPS3AP34 ENSG00000255354 ENSG00000255518 LOC105379241 BLK FAM167A ENSG00000255310 ENSG00000269954 FAM85A
GH08F011640 1.3 Ensembl ENCODE 12 -34.8 -34769 2.9 PKNOX1 TEAD4 ZIC2 RARA POLR2A EED NR2F6 ZNF600 ZBTB20 MAZ GATA4 ENSG00000255354 ENSG00000255518 LOC105379241 BLK DEFB136 DEFB135 FAM167A ENSG00000269918 ALG1L11P
GH08F011643 0.9 ENCODE 12 -33.0 -32952 0.4 PKNOX1 POLR2A CBFB JUNB TCF7 TBX21 GATA4 FAM167A LOC105379242
GH08F011645 1.1 ENCODE 12 -30.4 -30419 1.1 ZNF366 POLR2A GATA4 FAM167A DEFB134 LOC105379242
GH08F011679 0.5 FANTOM5 ENCODE 4.3 +3.6 3607 2.9 HDGF PKNOX1 YBX1 ETV6 CREM ZNF202 HCFC1 CBFB TBX21 NR2F2 RPS3AP34 PINX1 LOC101929290 LOC105379241 ENSG00000269918 FDFT1 ENSG00000255020 GATA4 LOC101929490 C8orf49
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GATA4 on UCSC Golden Path with GeneCards custom track

Genomic Location for GATA4 Gene

Chromosome:
8
Start:
11,676,924 bp from pter
End:
11,760,002 bp from pter
Size:
83,079 bases
Orientation:
Plus strand

Genomic View for GATA4 Gene

Genes around GATA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GATA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GATA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GATA4 Gene

Proteins for GATA4 Gene

  • Protein details for GATA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43694-GATA4_HUMAN
    Recommended name:
    Transcription factor GATA-4
    Protein Accession:
    P43694
    Secondary Accessions:
    • B7ZKX0
    • B7ZKZ4
    • Q3MJ45
    • Q5IFM8

    Protein attributes for GATA4 Gene

    Size:
    442 amino acids
    Molecular mass:
    44565 Da
    Quaternary structure:
    • 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. Interacts with NR5A1, ZFPM2 and TBX5. Interacts with TBX18.

    Three dimensional structures from OCA and Proteopedia for GATA4 Gene

    Alternative splice isoforms for GATA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GATA4 Gene

Post-translational modifications for GATA4 Gene

  • Methylation at Lys-300 attenuates transcriptional activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GATA4 (GATA4)
  • Cloud-Clone Corp. Antibodies for GATA4

No data available for DME Specific Peptides for GATA4 Gene

Domains & Families for GATA4 Gene

Gene Families for GATA4 Gene

Graphical View of Domain Structure for InterPro Entry

P43694

UniProtKB/Swiss-Prot:

GATA4_HUMAN :
  • Contains 2 GATA-type zinc fingers.
Similarity:
  • Contains 2 GATA-type zinc fingers.
genes like me logo Genes that share domains with GATA4: view

Function for GATA4 Gene

Molecular function for GATA4 Gene

GENATLAS Biochemistry:
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)
UniProtKB/Swiss-Prot Function:
Transcriptional activator that binds to the consensus sequence 5-AGATAG-3 and plays a key role in cardiac development (PubMed:24000169). Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement (PubMed:20081228). Required during testicular development (PubMed:21220346). May play a role in sphingolipid signaling by regulating the expression of sphingosine-1-phosphate degrading enzyme, spingosine-1-phosphate lyase (PubMed:15734735).

Gene Ontology (GO) - Molecular Function for GATA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
GO:0001076 transcription factor activity, RNA polymerase II transcription factor binding IDA 21330551
GO:0001085 RNA polymerase II transcription factor binding IBA --
GO:0001158 enhancer sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with GATA4: view
genes like me logo Genes that share phenotypes with GATA4: view

Human Phenotype Ontology for GATA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GATA4 Gene

MGI Knock Outs for GATA4:

Animal Model Products

Targeted motifs for GATA4 Gene
HOMER Transcription Factor Regulatory Elements motif GATA4
  • Consensus sequence: NBWGATAAGR Submotif: canonical Cell Type: Heart GEO ID: GSE35151

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for GATA4 Gene

Localization for GATA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATA4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GATA4 Gene COMPARTMENTS Subcellular localization image for GATA4 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
extracellular 2
endoplasmic reticulum 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GATA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,NAS 12845333
GO:0005654 nucleoplasm TAS --
GO:0090575 RNA polymerase II transcription factor complex IDA 9312027
genes like me logo Genes that share ontologies with GATA4: view

Pathways & Interactions for GATA4 Gene

genes like me logo Genes that share pathways with GATA4: view

Gene Ontology (GO) - Biological Process for GATA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping ISS --
GO:0003197 endocardial cushion development ISS --
GO:0003208 cardiac ventricle morphogenesis TAS 20347099
GO:0003215 cardiac right ventricle morphogenesis ISS --
GO:0003281 ventricular septum development ISS --
genes like me logo Genes that share ontologies with GATA4: view

No data available for SIGNOR curated interactions for GATA4 Gene

Drugs & Compounds for GATA4 Gene

(15) Drugs for GATA4 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Drugs used in alcohol dependence Pharma 0

(11) Additional Compounds for GATA4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GATA4: view

Transcripts for GATA4 Gene

Unigene Clusters for GATA4 Gene

GATA binding protein 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GATA4 Gene

No ASD Table

Relevant External Links for GATA4 Gene

GeneLoc Exon Structure for
GATA4
ECgene alternative splicing isoforms for
GATA4

Expression for GATA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GATA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GATA4 Gene

This gene is overexpressed in Heart - Left Ventricle (x10.7), Ovary (x10.6), Heart - Atrial Appendage (x9.6), and Pancreas (x4.5).

Protein differential expression in normal tissues from HIPED for GATA4 Gene

This gene is overexpressed in Fetal ovary (25.7), Ovary (19.5), and Testis (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GATA4 Gene



Protein tissue co-expression partners for GATA4 Gene

NURSA nuclear receptor signaling pathways regulating expression of GATA4 Gene:

GATA4

SOURCE GeneReport for Unigene cluster for GATA4 Gene:

Hs.243987
genes like me logo Genes that share expression patterns with GATA4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GATA4 Gene

Orthologs for GATA4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GATA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GATA4 34 35
  • 97.05 (n)
dog
(Canis familiaris)
Mammalia GATA4 34 35
  • 92.01 (n)
cow
(Bos Taurus)
Mammalia GATA4 34 35
  • 91.03 (n)
rat
(Rattus norvegicus)
Mammalia Gata4 34
  • 87.75 (n)
mouse
(Mus musculus)
Mammalia Gata4 34 16 35
  • 87.44 (n)
oppossum
(Monodelphis domestica)
Mammalia GATA4 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves GATA4 34 35
  • 71.75 (n)
lizard
(Anolis carolinensis)
Reptilia GATA4 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gata4 34
  • 67.01 (n)
Str.19934 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.1061 34
zebrafish
(Danio rerio)
Actinopterygii gata4 34 35
  • 64.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta grn 36
  • 80 (a)
pnr 36 35
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea elt-1 36
  • 62 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAT1 37
Species where no ortholog for GATA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GATA4 Gene

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

Paralogs for GATA4 Gene

Variants for GATA4 Gene

Sequence variations from dbSNP and Humsavar for GATA4 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs104894073 Atrial septal defect 2 (ASD2) [MIM:607941], Ventricular septal defect 1 (VSD1) [MIM:614429], Atrial septal defect 2 (ASD2) [MIM:607941], Pathogenic 11,750,213(+) CCTGC(A/C/G/T)GCCTC reference, missense
rs104894074 Atrial septal defect 2 (ASD2) [MIM:607941], Pathogenic 11,708,467(+) CCTGT(C/T)CTACC intron-variant, reference, missense
rs115099192 Tetralogy of Fallot (TOF) [MIM:187500], Ventricular septal defect 1 (VSD1) [MIM:614429], Pathogenic 11,758,366(+) CTCCC(A/C/G)ACAAG reference, missense
rs115372595 Atrioventricular septal defect 4 (AVSD4) [MIM:614430], other 11,756,974(+) CGGTG(C/T)TTCCA reference, missense
rs146017816 Ventricular septal defect 1 (VSD1) [MIM:614429], Pathogenic 11,758,471(+) CACTG(C/G/T)GTAAT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GATA4 Gene

Variant ID Type Subtype PubMed ID
esv2674198 CNV deletion 23128226
esv3616257 CNV loss 21293372
nsv1017865 CNV gain 25217958
nsv1126843 CNV deletion 24896259
nsv471715 CNV loss 16327809
nsv6079 CNV deletion 18451855
nsv951101 CNV deletion 24416366

Variation tolerance for GATA4 Gene

Residual Variation Intolerance Score: 68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.40; 63.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GATA4 Gene

Human Gene Mutation Database (HGMD)
GATA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GATA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATA4 Gene

Disorders for GATA4 Gene

MalaCards: The human disease database

(34) MalaCards diseases for GATA4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GATA4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GATA4_HUMAN
  • Atrial septal defect 2 (ASD2) [MIM:607941]: 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. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non-cardiac abnormalities. {ECO:0000269 PubMed:12845333, ECO:0000269 PubMed:15810002, ECO:0000269 PubMed:17643447, ECO:0000269 PubMed:18055909, ECO:0000269 PubMed:20347099, ECO:0000269 PubMed:20659440}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atrioventricular septal defect 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. {ECO:0000269 PubMed:17643447}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=GATA4 mutations can predispose to dilated cardiomyopathy (CMD), a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:24041700, ECO:0000269 PubMed:25017055}.
  • Testicular anomalies with or without congenital heart disease (TACHD) [MIM:615542]: A 46,XY disorder of sex development with variable clinical presentation and defects in testicular differentiation and function. Clinical features include ambiguous genitalia, fused labioscrotal folds, hypospadias, microphallus, and bilateral inguinal hernia containing gonads. {ECO:0000269 PubMed:21220346}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tetralogy of Fallot (TOF) [MIM:187500]: 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. {ECO:0000269 PubMed:18672102, ECO:0000269 PubMed:21110066, ECO:0000269 PubMed:24000169}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ventricular septal defect 1 (VSD1) [MIM:614429]: 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, Eisenmengers syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. {ECO:0000269 PubMed:18672102, ECO:0000269 PubMed:21110066, ECO:0000269 PubMed:21637914, ECO:0000269 PubMed:22101736}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GATA4

Genetic Association Database (GAD)
GATA4
Human Genome Epidemiology (HuGE) Navigator
GATA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GATA4
genes like me logo Genes that share disorders with GATA4: view

No data available for Genatlas for GATA4 Gene

Publications for GATA4 Gene

  1. GATA4 mutations in 486 Chinese patients with congenital heart disease. (PMID: 18672102) Zhang W. … Li Z. (Eur. J. Med. Genet. 2008) 3 4 22 46 64
  2. GATA4 sequence variants in patients with congenital heart disease. (PMID: 18055909) Tomita-Mitchell A. … Goldmuntz E. (J. Med. Genet. 2007) 3 4 22 46 64
  3. Spectrum of heart disease associated with murine and human GATA4 mutation. (PMID: 17643447) Rajagopal S.K. … Pu W.T. (J. Mol. Cell. Cardiol. 2007) 3 4 22 46 64
  4. GATA4 mutations in Chinese patients with congenital cardiac septal defects. (PMID: 19915893) Chen M.W. … Liu T.W. (Pediatr Cardiol 2010) 3 22 46 64
  5. Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects. (PMID: 19678963) Hamanoue H. … Matsumoto N. (Cardiol Young 2009) 3 22 46 64

Products for GATA4 Gene

Sources for GATA4 Gene

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