MSTN Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MSTN |
| Official Name | myostatin [Source:HGNC Symbol;Acc:HGNC:4223] |
| Ensembl ID | ENSG00000138379 |
| Bio databases IDs | |
| Aliases | myostatin |
| Synonyms | Cmpt, GDF8, growth/differentiation factor 8, MSLHP, myostatin |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MSTN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase activator
- TGF_beta_SF
- protein homodimerization
- Transforming growth factor beta like domain
- protein binding
- receptor binding
- cytokine
- pro domain
- heparin binding
- identical protein binding
- growth factor
- TGF-beta propeptide
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- weight gain
- cleft palate
- arthritis
- familial congenital muscle hypertrophy
- familial adenomatous polyposis
- fibrosis
- obesity
- polydactyly
- syndactyly
role in cell
- expression in
- proliferation
- production in
- activation in
- differentiation
- apoptosis
- abnormal morphology
- number
- chemotaxis
- formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Nucleus
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MSTN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of muscle hypertrophy
- muscle cell homeostasis
- response to estrogen stimulus
- transforming growth factor beta receptor signaling pathway
- ovulation cycle process
- response to gravity
- response to ethanol
- negative regulation of myoblast proliferation
- positive regulation of transcription, DNA-dependent
- myoblast migration involved in skeletal muscle regeneration
- positive regulation of macrophage chemotaxis
- satellite cell differentiation
- cellular response to hypoxia
- response to testosterone stimulus
- response to electrical stimulus
- skeletal muscle atrophy
- positive regulation of lamellipodium assembly
- response to muscle activity
- negative regulation of insulin receptor signaling pathway
- muscle organ development
- negative regulation of skeletal muscle tissue growth
- negative regulation of myoblast differentiation
- cellular response to dexamethasone stimulus
- negative regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- extracellular space
Molecular Function
What the gene product does at the molecular level
- growth factor activity
- identical protein binding
- protein homodimerization activity
- protein binding
- heparin binding
- cytokine activity
- receptor binding