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Aliases for GATA4 Gene

Aliases for GATA4 Gene

  • GATA Binding Protein 4 2 3
  • GATA-Binding Factor 4 3 4
  • TACHD 3 6
  • ASD2 3 6
  • VSD1 3 6
  • Transcription Factor GATA-4 3
  • GATA-Binding Protein 4 2
  • TOF 3

External Ids for GATA4 Gene

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. Mutations in this gene have been associated with cardiac septal defects. [provided by RefSeq, Jul 2008]

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 atrioventricular septal defect 4. Among its related pathways are GPCR Pathway and Heart Development. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is GATA5.

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. Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions. Acts as a transcriptional activator of ANF in cooperation with NKX2-5. Promotes cardiac myocyte enlargement. Required during testicular development.

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

Genomic Location for GATA4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GATA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GATA4 Gene

Regulatory Elements 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

Proteomics data for GATA4 Gene at MOPED

Post-translational modifications for GATA4 Gene

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

Other Protein References for GATA4 Gene

No data available for DME Specific Peptides for GATA4 Gene

Domains for GATA4 Gene

Gene Families for GATA4 Gene

HGNC:
  • GATAD :GATA zinc finger domain containing

UniProtKB/Swiss-Prot:

GATA4_HUMAN
Similarity:
  • Contains 2 GATA-type zinc fingers.:
    • P43694
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. Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions. Acts as a transcriptional activator of ANF in cooperation with NKX2-5. Promotes cardiac myocyte enlargement. Required during testicular development.

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 --
GO:0000978 RNA polymerase II core promoter proximal 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 21330551
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

Animal Models for GATA4 Gene

MGI Knock Outs for GATA4:

miRNA for GATA4 Gene

miRTarBase miRNAs that target GATA4
Targeting motifs for GATA4 Gene
HOMER Transcription Factor Regulatory Elements motif GATA4
  • Consensus sequence: NBWGATAAGR Submotif: canonical Cell Type: Heart GeoId: GSE35151

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting 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
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GATA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA --
GO:0005634 nucleus 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 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: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:0003007 heart morphogenesis --
genes like me logo Genes that share ontologies with GATA4: view

Compounds for GATA4 Gene

(25) Novoseek inferred chemical compound relationships for GATA4 Gene

Compound -log(P) Hits PubMed IDs
azathioprine 51.9 2
zinc 51.7 27
5-aza-2deoxycytidine 46.9 3
retinoic acid 35.3 9
vitamin a 20.1 2

(1) PharmGKB related drug/compound annotations for GATA4 Gene

Drug/compound Annotation
Drugs used in alcohol dependence CA
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:

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 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 (10.7), Ovary (10.6), Heart - Atrial Appendage (9.6), and Pancreas (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GATA4 Gene

SOURCE GeneReport for Unigene cluster for GATA4 Gene Hs.243987

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

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 36
  • 97.05 (n)
  • 96.73 (a)
GATA4 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GATA4 36
  • 91.03 (n)
  • 95.02 (a)
GATA4 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GATA4 36
  • 92.01 (n)
  • 95.02 (a)
GATA4 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gata4 36
  • 87.44 (n)
  • 92.69 (a)
Gata4 16
Gata4 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GATA4 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gata4 36
  • 87.75 (n)
  • 92.24 (a)
chicken
(Gallus gallus)
Aves GATA4 36
  • 71.75 (n)
  • 74.25 (a)
GATA4 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GATA4 37
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1061 36
tropical clawed frog
(Silurana tropicalis)
Amphibia gata4 36
  • 67.01 (n)
  • 71.02 (a)
Str.19934 36
zebrafish
(Danio rerio)
Actinopterygii gata4 36
  • 64.78 (n)
  • 65.48 (a)
gata4 37
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta pnr 37
  • 25 (a)
OneToMany
grn 38
  • 80 (a)
pnr 38
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea elt-1 38
  • 62 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAT1 39
Species with no ortholog for GATA4:
  • 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

Paralogs for GATA4 Gene

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

Variants for GATA4 Gene

Sequence variations from dbSNP and Humsavar for GATA4 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs12825 -- 11,759,038(-) CCCCT(C/G)TAGCT utr-variant-3-prime
rs745379 -- 11,758,186(+) GGCTG(A/G)AGCCA intron-variant
rs804280 Uncertain significance 11,755,189(-) TCTTA(G/T)GCACT intron-variant
rs804281 -- 11,754,356(-) gcctg(C/T)agtcc intron-variant
rs804282 -- 11,754,234(-) atctt(A/C)aaaaG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv6079 CNV Loss 18451855
nsv471715 CNV Loss 16327809
esv2674198 CNV Deletion 23128226
esv2736610 CNV Deletion 23290073
nsv890359 CNV Loss 21882294

Relevant External Links for GATA4 Gene

HapMap Linkage Disequilibrium report
GATA4
Human Gene Mutation Database (HGMD)
GATA4

Disorders for GATA4 Gene

(4) OMIM Diseases for GATA4 Gene (600576)

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.
  • 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:18055909, 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.
  • 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.
  • 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.
  • 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.
  • 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}.

(35) Novoseek inferred disease relationships for GATA4 Gene

Disease -log(P) Hits PubMed IDs
septal defect 63.7 20
cardiac hypertrophy 60.1 12
heart defects congenital 57.2 9
adrenal tumor 53.3 7
congenital heart disease 52 20

Relevant External Links for GATA4

Genetic Association Database (GAD)
GATA4
Human Genome Epidemiology (HuGE) Navigator
GATA4
genes like me logo Genes that share disorders with GATA4: view

Publications for GATA4 Gene

  1. 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 23 49
  2. GATA4 sequence variants in patients with congenital heart disease. (PMID: 18055909) Tomita-Mitchell A. … Goldmuntz E. (J. Med. Genet. 2007) 3 4 23 49
  3. GATA4 mutations in 486 Chinese patients with congenital heart disease. (PMID: 18672102) Zhang W. … Li Z. (Eur. J. Med. Genet. 2008) 3 4 23 49
  4. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. (PMID: 15810002) Hirayama-Yamada K. … Matsuoka R. (Am. J. Med. Genet. A 2005) 3 4 23
  5. Screening of 99 Danish patients with congenital heart disease for GATA4 mutations. (PMID: 17253934) Zhang L. … Larsen L.A. (Genet. Test. 2006) 3 23 49

Products for GATA4 Gene

  • Addgene plasmids for GATA4

Sources for GATA4 Gene

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