HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MSTN
myostatin
Chromosome 2 · 2q32.2
NCBI Gene: 2660Ensembl: ENSG00000138379.5HGNC: HGNC:4223UniProt: O14793
225PubMed Papers
21Diseases
6Drugs
1Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
signaling receptor bindingnegative regulation of myoblast differentiationpositive regulation of DNA-templated transcriptionmuscle cell cellular homeostasismyostatin-related muscle hypertrophyLung Abscessbronchopneumoniaplacenta praevia
✦AI Summary

Myostatin (MSTN), also known as GDF-8, is a transforming growth factor-beta superfamily member that functions specifically as a negative regulator of skeletal muscle growth 1. MSTN null mice display 2-3 fold increases in skeletal muscle mass through combined hyperplasia and hypertrophy 1, establishing its critical role in muscle development. Mechanistically, MSTN operates through the MSTN/SMAD2/3-p38 signaling pathway to suppress myogenic factors and promote muscle atrophy factors 2. Its inhibition increases myogenic differentiation while suppressing atrophic markers like atrogin-1 and MuRF-1 3. MSTN also regulates systemic energy homeostasis through autocrine and paracrine signaling in brown adipose tissue via KLF4 and FGF21 2. Clinically, elevated MSTN levels are implicated in muscle wasting conditions including sarcopenia, cachexia, muscular dystrophy, and age-related muscle loss 4. Therapeutic strategies targeting MSTN inhibition show promise: GLP-1R agonists ameliorate muscle atrophy by suppressing MSTN expression through PKA and PKB signaling 3, while MOTS-c reduces myostatin levels via CK2-PTEN-mTORC2-AKT-FOXO1 pathways 5. Multiple biologics have entered clinical trials for muscle-wasting diseases 4, though no approved treatments currently exist 6.

Sources cited
1
MSTN (GDF-8) functions as a negative regulator of skeletal muscle growth; null mice show 2-3 fold muscle mass increase through hyperplasia and hypertrophy
PMID: 9139826
2
GLP-1R agonists suppress MSTN and muscle atrophic factors (atrogin-1, MuRF-1) through PKA and PKB signaling pathways
PMID: 31020810
3
MSTN is a critical regulator of skeletal muscle mass; blocking MSTN signaling is therapeutic target for muscular dystrophy, cachexia, and age-related muscle loss
PMID: 33938454
4
MOTS-c reduces myostatin levels via CK2-PTEN-mTORC2-AKT-FOXO1 pathway inhibition, preventing muscle atrophy
PMID: 33554779
5
MSTN regulates energy homeostasis through MSTN/SMAD2/3-p38 signaling pathway in brown adipose tissue, affecting systemic metabolism
PMID: 38889010
6
Multiple mechanisms cause sarcopenia; no treatment currently available despite ongoing research
PMID: 34537916
Disease Associationsⓘ21
myostatin-related muscle hypertrophyOpen Targets
0.51Moderate
Lung AbscessOpen Targets
0.33Weak
bronchopneumoniaOpen Targets
0.33Weak
placenta praeviaOpen Targets
0.24Weak
sarcopeniaOpen Targets
0.12Weak
cancerOpen Targets
0.11Weak
rheumatoid arthritisOpen Targets
0.11Weak
chronic kidney diseaseOpen Targets
0.10Weak
type 1 diabetes mellitusOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.10Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.10Suggestive
exercise intolerance, riboflavin-responsiveOpen Targets
0.10Suggestive
polycystic ovary syndromeOpen Targets
0.10Suggestive
obesityOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
Duchenne muscular dystrophyOpen Targets
0.09Suggestive
inclusion body myositisOpen Targets
0.09Suggestive
liver diseaseOpen Targets
0.09Suggestive
Skeletal muscle hypertrophyOpen Targets
0.09Suggestive
Skeletal muscle atrophyOpen Targets
0.09Suggestive
Muscle hypertrophyUniProt
Pathogenic Variants1
NM_005259.3(MSTN):c.373+5G>APathogenic
Myostatin-related muscle hypertrophy
☆☆☆☆2013
View on ClinVar ↗
Drug Targets6
APITEGROMABPhase II
Growth/differentiation factor 8 inhibitor
spinal muscular atrophy
DOMAGROZUMABPhase II
Growth/differentiation factor 8 inhibitor
LANDOGROZUMABPhase II
Growth/differentiation factor 8 inhibitor
RAMATERCEPTPhase II
Growth/differentiation factor 8 inhibitor
STAMULUMABPhase I/II
Growth/differentiation factor 8 inhibitor
TREVOGRUMABPhase II
Growth/differentiation factor 8 inhibitor
muscle atrophy
Related Genes
FSTL3Protein interaction100%ACVR1BProtein interaction100%ACVR2AProtein interaction100%ACVR2BProtein interaction100%ACVR1CProtein interaction100%IGF1Protein interaction99%
Tissue Expression6 tissues
Ovary
100%
Brain
74%
Heart
58%
Lung
49%
Liver
42%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MSTNFSTL3ACVR1BACVR2AACVR2BACVR1CIGF1
PROTEIN STRUCTURE
Preparing viewer…
PDB5F3B · 1.76 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.57Moderately Constrained
pLIⓘ
0.83Intermediate
Observed/Expected LoF0.35 [0.23–0.57]
RankingsWhere MSTN stands among ~20K protein-coding genes
  • #1,808of 20,598
    Most Researched225 · top 10%
  • #4,712of 5,498
    Most Pathogenic Variants1
  • #3,757of 17,882
    Most Constrained (LOEUF)0.57 · top quartile
Genes detectedMSTN
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Amelioration of muscle wasting by glucagon-like peptide-1 receptor agonist in muscle atrophy.
PMID: 31020810
J Cachexia Sarcopenia Muscle · 2019
1.00
2
Understanding of sarcopenia: from definition to therapeutic strategies.
PMID: 34537916
Arch Pharm Res · 2021
0.90
3
Targeting the myostatin signaling pathway to treat muscle loss and metabolic dysfunction.
PMID: 33938454
J Clin Invest · 2021
0.80
4
Ginsenoside Rd ameliorates muscle wasting by suppressing the signal transducer and activator of transcription 3 pathway.
PMID: 36127129
J Cachexia Sarcopenia Muscle · 2022
0.72
5
MOTS-c reduces myostatin and muscle atrophy signaling.
PMID: 33554779
Am J Physiol Endocrinol Metab · 2021
0.70