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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
8
Cytoband
p23.1
Chromosome location (bp)
11676959 - 11760002
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function 1,2,3. In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it down-regulates endocardial and endothelial gene expression 4. 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 5. Required during testicular development 6. May play a role in sphingolipid signaling by regulating the expression of sphingosine-1-phosphate degrading enzyme, sphingosine-1-phosphate lyase 7....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001216[DNA-binding transcription activator activity] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001947[heart looping] GO:0003162[atrioventricular node development] GO:0003180[aortic valve morphogenesis] GO:0003190[atrioventricular valve formation] 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:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007267[cell-cell signaling] GO:0007492[endoderm development] GO:0007507[heart development] GO:0008270[zinc ion binding] GO:0008584[male gonad development] GO:0009410[response to xenobiotic stimulus] GO:0009653[anatomical structure morphogenesis] GO:0009888[tissue development] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0010667[negative regulation of cardiac muscle cell apoptotic process] GO:0016604[nuclear body] GO:0030154[cell differentiation] GO:0035054[embryonic heart tube anterior/posterior pattern specification] GO:0036302[atrioventricular canal development] GO:0042060[wound healing] GO:0043565[sequence-specific DNA binding] GO:0045165[cell fate commitment] GO:0045766[positive regulation of angiogenesis] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048617[embryonic foregut morphogenesis] GO:0051896[regulation of protein kinase B signaling] GO:0060413[atrial septum morphogenesis] GO:0060575[intestinal epithelial cell differentiation] GO:0061026[cardiac muscle tissue regeneration] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0070410[co-SMAD binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1903202[negative regulation of oxidative stress-induced cell death] GO:1990837[sequence-specific double-stranded DNA binding] GO:2001234[negative regulation of apoptotic signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
B3KUF4 [Direct mapping] Transcription factor GATA-4; cDNA FLJ39741 fis, clone SMINT2016544, highly similar to TRANSCRIPTION FACTOR GATA-4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001216[DNA-binding transcription activator activity] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001947[heart looping] GO:0003162[atrioventricular node development] GO:0003180[aortic valve morphogenesis] GO:0003190[atrioventricular valve formation] 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:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007267[cell-cell signaling] GO:0007492[endoderm development] GO:0007507[heart development] GO:0008270[zinc ion binding] GO:0008584[male gonad development] GO:0009410[response to xenobiotic stimulus] GO:0009612[response to mechanical stimulus] GO:0009653[anatomical structure morphogenesis] GO:0009888[tissue development] GO:0010507[negative regulation of autophagy] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0010667[negative regulation of cardiac muscle cell apoptotic process] GO:0016604[nuclear body] GO:0019901[protein kinase binding] GO:0030154[cell differentiation] GO:0030513[positive regulation of BMP signaling pathway] GO:0033189[response to vitamin A] GO:0035054[embryonic heart tube anterior/posterior pattern specification] GO:0036302[atrioventricular canal development] GO:0042060[wound healing] GO:0043565[sequence-specific DNA binding] GO:0045165[cell fate commitment] GO:0045766[positive regulation of angiogenesis] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048617[embryonic foregut morphogenesis] GO:0051525[NFAT protein binding] GO:0051896[regulation of protein kinase B signaling] GO:0055007[cardiac muscle cell differentiation] GO:0060290[transdifferentiation] GO:0060413[atrial septum morphogenesis] GO:0060575[intestinal epithelial cell differentiation] GO:0061026[cardiac muscle tissue regeneration] GO:0061049[cell growth involved in cardiac muscle cell development] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0070410[co-SMAD binding] GO:0071333[cellular response to glucose stimulus] GO:0086004[regulation of cardiac muscle cell contraction] GO:0090575[RNA polymerase II transcription regulator complex] GO:0140297[DNA-binding transcription factor binding] GO:1903202[negative regulation of oxidative stress-induced cell death] GO:1990837[sequence-specific double-stranded DNA binding] GO:2001234[negative regulation of apoptotic signaling pathway]
B6DU75 [Direct mapping] GATA binding protein 4; Transcription factor GATA-4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001216[DNA-binding transcription activator activity] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001947[heart looping] GO:0003162[atrioventricular node development] GO:0003180[aortic valve morphogenesis] GO:0003190[atrioventricular valve formation] 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:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007267[cell-cell signaling] GO:0007492[endoderm development] GO:0007507[heart development] GO:0008270[zinc ion binding] GO:0008584[male gonad development] GO:0009410[response to xenobiotic stimulus] GO:0009653[anatomical structure morphogenesis] GO:0009888[tissue development] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0010667[negative regulation of cardiac muscle cell apoptotic process] GO:0016604[nuclear body] GO:0030154[cell differentiation] GO:0035054[embryonic heart tube anterior/posterior pattern specification] GO:0036302[atrioventricular canal development] GO:0042060[wound healing] GO:0043565[sequence-specific DNA binding] GO:0045165[cell fate commitment] GO:0045766[positive regulation of angiogenesis] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048617[embryonic foregut morphogenesis] GO:0051896[regulation of protein kinase B signaling] GO:0060413[atrial septum morphogenesis] GO:0060575[intestinal epithelial cell differentiation] GO:0061026[cardiac muscle tissue regeneration] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0070410[co-SMAD binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1903202[negative regulation of oxidative stress-induced cell death] GO:1990837[sequence-specific double-stranded DNA binding] GO:2001234[negative regulation of apoptotic signaling pathway]
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