MSTN

Protein identityUniProt · HPA

UniProt accession

O14793

Gene

MSTN

Ensembl

ENSG00000138379

Chromosome

2

Canonical length

375 aa

Protein class

Disease related genes, Human disease related genes, Predicted secreted proteins

Secretome location

Secreted in other tissues

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

375 residues, UniProt reviewed canonical sequence.

>O14793|MSTN
     1  MQKLQLCVYI YLFMLIVAGP VDLNENSEQK ENVEKEGLCN ACTWRQNTKS SRIEAIKIQI
    61  LSKLRLETAP NISKDVIRQL LPKAPPLREL IDQYDVQRDD SSDGSLEDDD YHATTETIIT
   121  MPTESDFLMQ VDGKPKCCFF KFSSKIQYNK VVKAQLWIYL RPVETPTTVF VQILRLIKPM
   181  KDGTRYTGIR SLKLDMNPGT GIWQSIDVKT VLQNWLKQPE SNLGIEIKAL DENGHDLAVT
   241  FPGPGEDGLN PFLEVKVTDT PKRSRRDFGL DCDEHSTESR CCRYPLTVDF EAFGWDWIIA
   301  PKRYKANYCS GECEFVFLQK YPHTHLVHQA NPRGSAGPCC TPTKMSPINM LYFNGKEQII
   361  YGKIPAMVVD RCGCS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MSTN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

14 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MSTN.

Disease | AllUniProt

Conditions MSTN is implicated in, by any mechanism.

• Muscle hypertrophy (MSLHP) MIM:614160

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 93 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Myostatin-related muscle hypertrophy

ReferencesPubMed · IEDB

Publications for MSTN from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.52

gnomAD pLI

0.51

gnomAD missense Z

0.78

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to dexamethasone stimulus
• cellular response to hypoxia
• muscle cell cellular homeostasis
• muscle organ development
• myoblast migration involved in skeletal muscle regeneration
• negative regulation of insulin receptor signaling pathway
• negative regulation of myoblast differentiation
• negative regulation of myoblast proliferation
• negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
• negative regulation of satellite cell differentiation
• negative regulation of skeletal muscle satellite cell proliferation
• negative regulation of skeletal muscle tissue growth
• ovulation cycle process
• positive regulation of DNA-templated transcription
• positive regulation of lamellipodium assembly
• positive regulation of macrophage chemotaxis
• response to electrical stimulus
• response to estrogen
• response to ethanol
• response to gravity
• response to muscle activity
• response to testosterone
• skeletal muscle atrophy
• skeletal muscle satellite cell differentiation
• skeletal muscle tissue development
• transforming growth factor beta receptor signaling pathway
• trophoblast cell migration
• negative regulation of muscle hypertrophy

Molecular functions

• cytokine activity
• growth factor activity
• heparin binding
• identical protein binding
• protein homodimerization activity
• signaling receptor binding

Cellular components

• extracellular space

Protein domainsUniProt · Pfam · InterPro

• TGF-beta, propeptide
• Transforming growth factor-beta, C-terminal
• Transforming growth factor-beta-like
• Transforming growth factor beta, conserved site
• Cystine-knot cytokine
• Transforming growth factor beta like domain
• TGF-beta propeptide

KeywordsUniProt

• Cleavage on pair of basic residues
• Cytokine
• Disulfide bond
• Glycoprotein
• Growth factor
• Heparin-binding
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of MSTN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FST3
• WFIKKN2
• FSTL3