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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
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
2
Cytoband
q32.2
Chromosome location (bp)
190055700 - 190062729
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts specifically as a negative regulator of skeletal muscle growth....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Cytokine, Growth factor, Heparin-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein negatively regulates skeletal muscle cell proliferation and differentiation. Mutations in this gene are associated with increased skeletal muscle mass in humans and other mammals. [provided by RefSeq, Jul 2016]...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.
MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Human disease related genes Musculoskeletal diseases Muscular diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005102[signaling receptor binding] GO:0005125[cytokine activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005737[cytoplasm] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007517[muscle organ development] GO:0008083[growth factor activity] GO:0008201[heparin binding] GO:0009408[response to heat] GO:0009629[response to gravity] GO:0010592[positive regulation of lamellipodium assembly] GO:0010759[positive regulation of macrophage chemotaxis] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0014732[skeletal muscle atrophy] GO:0014741[negative regulation of muscle hypertrophy] GO:0014816[skeletal muscle satellite cell differentiation] GO:0014839[myoblast migration involved in skeletal muscle regeneration] GO:0014850[response to muscle activity] GO:0022602[ovulation cycle process] GO:0033574[response to testosterone] GO:0033673[negative regulation of kinase activity] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043403[skeletal muscle tissue regeneration] GO:0043627[response to estrogen] GO:0045471[response to ethanol] GO:0045662[negative regulation of myoblast differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0046716[muscle cell cellular homeostasis] GO:0048632[negative regulation of skeletal muscle tissue growth] GO:0051384[response to glucocorticoid] GO:0051602[response to electrical stimulus] GO:0051898[negative regulation of protein kinase B signaling] GO:0060395[SMAD protein signal transduction] GO:0071549[cellular response to dexamethasone stimulus] GO:1902723[negative regulation of skeletal muscle satellite cell proliferation] GO:1902725[negative regulation of satellite cell differentiation] GO:2000818[negative regulation of myoblast proliferation]
The Human Protein Atlas project is funded
