Human Gene GATA4 (ENST00000335135.8) from GENCODE V39
  Description: Homo sapiens GATA binding protein 4 (GATA4), transcript variant 2, mRNA. (from RefSeq NM_002052)
RefSeq Summary (NM_002052): 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].
Gencode Transcript: ENST00000335135.8
Gencode Gene: ENSG00000136574.19
Transcript (Including UTRs)
   Position: hg38 chr8:11,704,204-11,760,002 Size: 55,799 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr8:11,708,313-11,758,475 Size: 50,163 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2022-01-17 08:30:34

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:11,704,204-11,760,002)mRNA (may differ from genome)Protein (442 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGencode
GeneCardsHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: GATA4_HUMAN
DESCRIPTION: RecName: Full=Transcription factor GATA-4; AltName: Full=GATA-binding factor 4;
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.
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.
PTM: Methylation at Lys-300 attenuates transcriptional activity (By similarity).
DISEASE: 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.
DISEASE: 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.
DISEASE: 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.
DISEASE: 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.
SIMILARITY: Contains 2 GATA-type zinc fingers.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GATA4";

-  MalaCards Disease Associations
  MalaCards Gene Search: GATA4
Diseases sorted by gene-association score: testicular anomalies with or without congenital heart disease* (1380), atrial septal defect 2* (1330), ventricular septal defect 1* (1330), atrioventricular septal defect 4* (1230), tetralogy of fallot* (636), heart disease* (478), complete atrioventricular canal-tetralogy of fallot syndrome* (350), complete atrioventricular canal-ventricle hypoplasia syndrome* (350), complete atrioventricular canal-left heart obstruction syndrome* (350), patent foramen ovale* (264), partial atrioventricular canal* (247), 46,xy partial gonadal dysgenesis* (132), atrioventricular septal defect* (101), familial atrial fibrillation* (99), chromosome 8p23.1 deletion* (43), ventricular septal defect (39), heart septal defect (19), doxorubicin induced cardiomyopathy (18), atrial heart septal defect (17), pulmonary valve stenosis (17), pyromania (16), ebstein anomaly (14), embryonal carcinoma (10), congenital diaphragmatic hernia (9), atrioventricular block (8), alcohol dependence (8), diaphragm disease (7), pulmonary valve disease (6), occult macular dystrophy (5), conotruncal heart malformations (5), pancreatic agenesis (5), transposition of the great arteries (4), dilated cardiomyopathy (4), cardiomyopathy (2), myocardial infarction (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.00 RPKM in Ovary
Total median expression: 192.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -237.20558-0.425 Picture PostScript Text
3' UTR -523.171527-0.343 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008013 - GATA_N
IPR016375 - TF_GATA_4/5/6
IPR000679 - Znf_GATA
IPR013088 - Znf_NHR/GATA

Pfam Domains:
PF00320 - GATA zinc finger
PF05349 - GATA-type transcription activator, N-terminal

ModBase Predicted Comparative 3D Structure on P43694
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001085 RNA polymerase II transcription factor binding
GO:0001158 enhancer sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0008270 zinc ion binding
GO:0019901 protein kinase binding
GO:0033613 activating transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding
GO:0051525 NFAT protein binding
GO:0070410 co-SMAD binding

Biological Process:
GO:0001947 heart looping
GO:0003197 endocardial cushion development
GO:0003208 cardiac ventricle morphogenesis
GO:0003215 cardiac right ventricle morphogenesis
GO:0003281 ventricular septum development
GO:0003289 atrial septum primum morphogenesis
GO:0003290 atrial septum secundum morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007267 cell-cell signaling
GO:0007492 endoderm development
GO:0007596 blood coagulation
GO:0008584 male gonad development
GO:0009612 response to mechanical stimulus
GO:0010507 negative regulation of autophagy
GO:0010575 positive regulation of vascular endothelial growth factor production
GO:0030513 positive regulation of BMP signaling pathway
GO:0033189 response to vitamin A
GO:0035054 embryonic heart tube anterior/posterior pattern specification
GO:0042493 response to drug
GO:0045766 positive regulation of angiogenesis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048617 embryonic foregut morphogenesis
GO:0051891 positive regulation of cardioblast differentiation
GO:0055007 cardiac muscle cell differentiation
GO:0060290 transdifferentiation
GO:0060413 atrial septum morphogenesis
GO:0060575 intestinal epithelial cell differentiation
GO:0061049 cell growth involved in cardiac muscle cell development
GO:0071333 cellular response to glucose stimulus
GO:0086004 regulation of cardiac muscle cell contraction

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016604 nuclear body
GO:0090575 RNA polymerase II transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  AK097060 - Homo sapiens cDNA FLJ39741 fis, clone SMINT2016544, highly similar to TRANSCRIPTION FACTOR GATA-4.
FJ169610 - Homo sapiens GATA binding protein 4 (GATA4) mRNA, partial cds, alternatively spliced.
BC033672 - Homo sapiens GATA binding protein 4, mRNA (cDNA clone IMAGE:5168608), with apparent retained intron.
AF318320 - Homo sapiens pp10443 mRNA, complete cds.
D78260 - Homo sapiens mRNA for GATA-4 transcription factor, complete cds.
L34357 - Homo sapiens GATA-4 mRNA, complete cds.
BC101580 - Homo sapiens GATA binding protein 4, mRNA (cDNA clone MGC:126629 IMAGE:8069086), complete cds.
BC143434 - Homo sapiens GATA binding protein 4, mRNA (cDNA clone MGC:176959 IMAGE:9051942), complete cds.
BC143479 - Homo sapiens GATA binding protein 4, mRNA (cDNA clone MGC:177004 IMAGE:9051987), complete cds.
JD396609 - Sequence 377633 from Patent EP1572962.
BC105108 - Homo sapiens GATA binding protein 4, mRNA (cDNA clone MGC:132768 IMAGE:8144111), complete cds.
JD151467 - Sequence 132491 from Patent EP1572962.
JD402943 - Sequence 383967 from Patent EP1572962.
JD537783 - Sequence 518807 from Patent EP1572962.
JD445450 - Sequence 426474 from Patent EP1572962.
JD404494 - Sequence 385518 from Patent EP1572962.
KJ896867 - Synthetic construct Homo sapiens clone ccsbBroadEn_06261 GATA4 gene, encodes complete protein.
AY740706 - Homo sapiens GATA binding protein 4 (GATA4) mRNA, complete cds.
JD271294 - Sequence 252318 from Patent EP1572962.
JD555745 - Sequence 536769 from Patent EP1572962.
JD100668 - Sequence 81692 from Patent EP1572962.
JD471938 - Sequence 452962 from Patent EP1572962.
JD087974 - Sequence 68998 from Patent EP1572962.
JD550506 - Sequence 531530 from Patent EP1572962.
JD450939 - Sequence 431963 from Patent EP1572962.
JD367733 - Sequence 348757 from Patent EP1572962.
JD216778 - Sequence 197802 from Patent EP1572962.
JD320669 - Sequence 301693 from Patent EP1572962.
AF180736 - Homo sapiens GATA-binding protein 4 (GATA4) gene, 3' untranslated region.
JD317616 - Sequence 298640 from Patent EP1572962.
JD071782 - Sequence 52806 from Patent EP1572962.
BC068079 - Homo sapiens cDNA clone IMAGE:6206779, partial cds.
JD122177 - Sequence 103201 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_hopPathway - Hop Pathway in Cardiac Development
h_nfatPathway - NFAT and Hypertrophy of the heart (Transcription in the broken heart)
h_alkPathway - ALK in cardiac myocytes

Reactome (by CSHL, EBI, and GO)

Protein P43694 (Reactome details) participates in the following event(s):

R-HSA-996755 ZFPM proteins bind GATA proteins
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: B7ZKX0, ENST00000335135.1, ENST00000335135.2, ENST00000335135.3, ENST00000335135.4, ENST00000335135.5, ENST00000335135.6, ENST00000335135.7, GATA4_HUMAN, NM_002052, P43694, Q3MJ45, Q5IFM8, uc003wuc.1, uc003wuc.2, uc003wuc.3
UCSC ID: ENST00000335135.8
RefSeq Accession: NM_002052
Protein: P43694 (aka GATA4_HUMAN or GAT4_HUMAN)
CCDS: CCDS5983.1, CCDS78303.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GATA4:
cdh-ov (Congenital Diaphragmatic Hernia Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.