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
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";
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.
ModBase Predicted Comparative 3D Structure on P43694
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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.
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