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 bee... See more...

Aliases for GATA4 Gene

Aliases for GATA4 Gene

  • GATA Binding Protein 4 2 3 5
  • Transcription Factor GATA-4 3 4
  • GATA-Binding Factor 4 3 4
  • GATA-Binding Protein 4 2
  • TACHD 3
  • GATA4 5
  • ASD2 3
  • VSD1 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 Tetralogy Of Fallot and Testicular Anomalies With Or Without Congenital Heart Disease. Among its related pathways are Heart Development and MicroRNAs in cardiomyocyte hypertrophy. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is GATA6.

UniProtKB/Swiss-Prot Summary for GATA4 Gene

  • Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function (PubMed:24000169, PubMed:27984724). In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it downregulates endocardial and endothelial gene expression (PubMed:27984724). 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 (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, sphingosine-1-phosphate lyase (PubMed:15734735).

Gene Wiki entry for GATA4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GATA4 Gene

Genomics for GATA4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GATA4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GATA4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GATA4

Top Transcription factor binding sites by QIAGEN in the GATA4 gene promoter:
  • C/EBPbeta
  • E2F
  • E2F-4
  • MyoD
  • Nkx2-5
  • PPAR-alpha
  • Sox9

Genomic Locations for GATA4 Gene

Genomic Locations for GATA4 Gene
chr8:11,676,931-11,760,002
(GRCh38/hg38)
Size:
83,072 bases
Orientation:
Plus strand
chr8:11,534,468-11,617,511
(GRCh37/hg19)
Size:
83,044 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 (via the second Zn finger) with NFATC4 (By similarity). Interacts with 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

  • Abcam antibodies for GATA4

No data available for DME Specific Peptides for GATA4 Gene

Domains & Families for GATA4 Gene

Gene Families for GATA4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GATA4 Gene

InterPro:
Blocks:
  • Zn-finger, GATA type
  • GATA-type transcription activator, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for GATA4 Gene

GenScript: Design optimal peptide antigens:
  • GATA binding protein 4 (A9Z1I4_HUMAN)
  • GATA binding protein 4 (B0LXE8_HUMAN)
  • GATA binding protein 4 (B0LXE9_HUMAN)
  • GATA binding protein 4 (B0LXF0_HUMAN)
  • GATA binding protein 4 (B0LXF1_HUMAN)
genes like me logo Genes that share domains with GATA4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GATA4 Gene

Function for GATA4 Gene

Molecular function for GATA4 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function (PubMed:24000169, PubMed:27984724). In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it downregulates endocardial and endothelial gene expression (PubMed:27984724). 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 (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, sphingosine-1-phosphate lyase (PubMed:15734735).
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)

Phenotypes From GWAS Catalog for GATA4 Gene

Gene Ontology (GO) - Molecular Function for GATA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 9566909
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IGI 21330551
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA,ISM 19274049
GO:0000987 proximal promoter 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

CRISPR 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GATA4

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GATA4 gene
Compartment Confidence
nucleus 5
extracellular 3
cytoskeleton 3
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GATA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA,NAS 12845333
GO:0005654 nucleoplasm TAS --
GO:0016604 nuclear body IDA --
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

Pathways by source for GATA4 Gene

1 GeneGo (Thomson Reuters) pathway for GATA4 Gene
  • Development Endothelin-1/EDNRA signaling
9 Qiagen pathways for GATA4 Gene
  • BMP Pathway
  • Cardiomyocyte Differentiation through BMP Receptors
  • Factors Promoting Cardiogenesis in Vertebrates
  • HOP Signaling
  • NFAT and Cardiac Hypertrophy

SIGNOR curated interactions for GATA4 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GATA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping ISS --
GO:0003180 aortic valve morphogenesis IMP 29325903
GO:0003190 atrioventricular valve formation ISS --
GO:0003197 endocardial cushion development ISS --
GO:0003208 cardiac ventricle morphogenesis TAS 20347099
genes like me logo Genes that share ontologies with GATA4: view

Drugs & Compounds for GATA4 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Warfarin Approved Pharma 609
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

mRNA/cDNA for GATA4 Gene

5 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GATA4

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

No ASD Table

Relevant External Links for GATA4 Gene

GeneLoc Exon Structure 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, MaxQB, and MOPED for GATA4 Gene



Protein tissue co-expression partners for GATA4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GATA4

SOURCE GeneReport for Unigene cluster for GATA4 Gene:

Hs.243987

Evidence on tissue expression from TISSUES for GATA4 Gene

  • Heart(4.8)
  • Lung(4.5)
  • Muscle(3.8)
  • Nervous system(3.4)
  • Stomach(3.3)
  • Liver(3.2)
  • Intestine(3.1)
  • Kidney(3.1)
  • Skin(3.1)
  • Bone marrow(2.9)
  • Pancreas(2.9)
  • Adrenal gland(2.7)
  • Blood(2.5)
  • Thyroid gland(2.5)
  • Spleen(2.3)
  • Lymph node(2.2)
  • Gall bladder(2.1)
  • Bone(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GATA4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • clavicle
  • heart
  • heart valve
  • lung
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • skin
  • spinal column
genes like me logo Genes that share expression patterns with GATA4: view

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 30 31
  • 97.05 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GATA4 30 31
  • 92.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GATA4 30 31
  • 91.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gata4 30
  • 87.75 (n)
Mouse
(Mus musculus)
Mammalia Gata4 30 17 31
  • 87.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GATA4 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GATA4 30 31
  • 71.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GATA4 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gata4 30
  • 67.01 (n)
Str.19934 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.1061 30
Zebrafish
(Danio rerio)
Actinopterygii gata4 30 31
  • 64.78 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta grn 32
  • 80 (a)
pnr 31 32
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea elt-1 32
  • 62 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAT1 33
Species where no ortholog for GATA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GATA4: view image

Paralogs for GATA4 Gene

Paralogs for GATA4 Gene

(7) SIMAP similar genes for GATA4 Gene using alignment to 19 proteins:

  • GATA4_HUMAN
  • A9Z1I4_HUMAN
  • B0LXE8_HUMAN
  • B0LXE9_HUMAN
  • B0LXF0_HUMAN
  • B0LXF1_HUMAN
  • B0LXF2_HUMAN
  • B0LXF3_HUMAN
  • B0LXF4_HUMAN
  • B0LXF5_HUMAN
  • B0LXF6_HUMAN
  • B2ZBW1_HUMAN
  • B2ZBW2_HUMAN
  • B3KUF4_HUMAN
  • B6DU75_HUMAN
  • B7ZKZ4_HUMAN
  • E9PKS4_HUMAN
  • E9PRI5_HUMAN
  • R4GND5_HUMAN
genes like me logo Genes that share paralogs with GATA4: view

Variants for GATA4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GATA4 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
30104 Pathogenic: Tetralogy of Fallot 11,708,666(+) G/GGCC INFRAME_INSERTION,INTRON_VARIANT
639397 Uncertain Significance: Atrioventricular septal defect 4 11,708,718(+) G/C MISSENSE_VARIANT,INTRON_VARIANT
639476 Uncertain Significance: Atrioventricular septal defect 4 11,708,800(+) C/G MISSENSE_VARIANT,INTRON_VARIANT
640915 Uncertain Significance: Atrioventricular septal defect 4 11,758,303(+) T/C MISSENSE_VARIANT
640970 Uncertain Significance: Atrioventricular septal defect 4 11,758,309(+) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GATA4 Gene

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)

Additional Variant Information for GATA4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GATA4 Gene

MalaCards: The human disease database

(73) MalaCards diseases for GATA4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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, ECO:0000269 PubMed:27984724}. 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, Eisenmenger's 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.
  • 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}.

Additional Disease Information for GATA4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (European journal of medical genetics 2008) 3 4 23 41
  2. Spectrum of heart disease associated with murine and human GATA4 mutation. (PMID: 17643447) Rajagopal SK … Pu WT (Journal of molecular and cellular cardiology 2007) 3 4 23 41
  3. GATA4 sequence variants in patients with congenital heart disease. (PMID: 18055909) Tomita-Mitchell A … Goldmuntz E (Journal of medical genetics 2007) 3 4 23 41
  4. GATA4 mutations in Chinese patients with congenital cardiac septal defects. (PMID: 19915893) Chen MW … Liu TW (Pediatric cardiology 2010) 3 23 41
  5. Cyclin-dependent kinase-9 is a component of the p300/GATA4 complex required for phenylephrine-induced hypertrophy in cardiomyocytes. (PMID: 20081228) Sunagawa Y … Hasegawa K (The Journal of biological chemistry 2010) 3 4 23

Products for GATA4 Gene

  • Addgene plasmids for GATA4
  • Signalway Proteins for GATA4

Sources for GATA4 Gene