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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).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
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
17
Cytoband
p12
Chromosome location (bp)
12665890 - 12768949
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Smooth muscle cells (SM) and cardiac muscle cells-specific transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis, urinary bladder development, and differentiation of the smooth muscle cell lineage (myogenesis) (By similarity). Positively regulates the transcription of genes involved in vascular smooth muscle contraction (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]...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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Disease related genes Human disease related genes Congenital malformations Congenital malformations of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0001666[response to hypoxia] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0008285[negative regulation of cell population proliferation] GO:0035051[cardiocyte differentiation] GO:0035065[regulation of histone acetylation] GO:0045736[negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045987[positive regulation of smooth muscle contraction] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051145[smooth muscle cell differentiation] GO:0051150[regulation of smooth muscle cell differentiation] GO:0051152[positive regulation of smooth muscle cell differentiation] GO:0055007[cardiac muscle cell differentiation] GO:0060157[urinary bladder development] GO:0060379[cardiac muscle cell myoblast differentiation] GO:0060947[cardiac vascular smooth muscle cell differentiation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0140297[DNA-binding transcription factor binding] GO:1900222[negative regulation of amyloid-beta clearance] GO:2000727[positive regulation of cardiac muscle cell differentiation] GO:2001015[negative regulation of skeletal muscle cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Disease related genes Human disease related genes Congenital malformations Congenital malformations of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0001560[regulation of cell growth by extracellular stimulus] GO:0001570[vasculogenesis] GO:0001666[response to hypoxia] GO:0003231[cardiac ventricle development] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0007507[heart development] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0010628[positive regulation of gene expression] GO:0010659[cardiac muscle cell apoptotic process] GO:0010667[negative regulation of cardiac muscle cell apoptotic process] GO:0010832[negative regulation of myotube differentiation] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0035035[histone acetyltransferase binding] GO:0035051[cardiocyte differentiation] GO:0035065[regulation of histone acetylation] GO:0035886[vascular associated smooth muscle cell differentiation] GO:0042826[histone deacetylase binding] GO:0043388[positive regulation of DNA binding] GO:0043954[cellular component maintenance] GO:0045661[regulation of myoblast differentiation] GO:0045736[negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045987[positive regulation of smooth muscle contraction] GO:0048286[lung alveolus development] GO:0048565[digestive tract development] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051145[smooth muscle cell differentiation] GO:0051150[regulation of smooth muscle cell differentiation] GO:0051152[positive regulation of smooth muscle cell differentiation] GO:0055007[cardiac muscle cell differentiation] GO:0055012[ventricular cardiac muscle cell differentiation] GO:0060065[uterus development] GO:0060157[urinary bladder development] GO:0060354[negative regulation of cell adhesion molecule production] GO:0060379[cardiac muscle cell myoblast differentiation] GO:0060947[cardiac vascular smooth muscle cell differentiation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070412[R-SMAD binding] GO:0097070[ductus arteriosus closure] GO:0140297[DNA-binding transcription factor binding] GO:1900222[negative regulation of amyloid-beta clearance] GO:1900239[regulation of phenotypic switching] GO:1902895[positive regulation of miRNA transcription] GO:1904706[negative regulation of vascular associated smooth muscle cell proliferation] GO:1904753[negative regulation of vascular associated smooth muscle cell migration] GO:2000587[negative regulation of platelet-derived growth factor receptor-beta signaling pathway] GO:2000727[positive regulation of cardiac muscle cell differentiation] GO:2001015[negative regulation of skeletal muscle cell differentiation]
Q6N065 [Direct mapping] Myocardin; Uncharacterized protein DKFZp686O15128
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Human disease related genes Congenital malformations Congenital malformations of the urinary system