Official Symbol MSTNprovided by HGNC Official Full Name myostatinprovided by HGNC Primary source HGNC:HGNC:4223 See related Ensembl:ENSG00000138379 MIM:601788; AllianceGenome:HGNC:4223 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GDF8; MSLHP Summary 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] Expression Low expression observed in reference dataset See more Orthologs all Try the new Gene page Try the new Transcripts and proteins table
Location: 2q32.2
Exon count: 3
Annotation release Status Assembly Chr Location RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (190055700..190062729, complement) RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190545060..190552089, complement) RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190920426..190927455, complement)
Chromosome 2 - NC_000002.12
Genomic Sequence:
Project title: Tissue-specific circular RNA induction during human fetal development Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA BioProject: PRJNA270632 Publication: PMID 26076956 Analysis date: Mon Apr 2 22:54:59 2018
Related articles in PubMed
Plasma myostatin levels are related to the extent of right ventricular dysfunction in exacerbation of chronic obstructive pulmonary disease. Ju CR, et al. Biomarkers, 2017 May-Jun. PMID 27323660 Myostatin Gene Polymorphism in an Elderly Sarcopenic Turkish Population. Tosun Tasar P, et al. Genet Test Mol Biomarkers, 2015 Aug. PMID 26046327 Quadriceps myostatin expression in COPD. Man WD, et al. Eur Respir J, 2010 Sep. PMID 20930205, Free PMC Article The K153R variant in the myostatin gene and sarcopenia at the end of the human lifespan. González-Freire M, et al. Age (Dordr), 2010 Sep. PMID 20640547, Free PMC Article Myostatin: expanding horizons. Sharma M, et al. IUBMB Life, 2015 Aug. PMID 26305594
See all (225) citations in PubMed
GeneRIFs: Gene References Into Functions
What's a GeneRIF?
Myostatin expression in lung cancer induces sarcopenia and promotes cancer progression.
Title: Myostatin expression in lung cancer induces sarcopenia and promotes cancer progression. Sex-specific increases in myostatin and SMAD3 contribute to obesity-related insulin resistance in human skeletal muscle and primary human myotubes.
Title: Sex-specific increases in myostatin and SMAD3 contribute to obesity-related insulin resistance in human skeletal muscle and primary human myotubes. Role of irisin and myostatin on sarcopenia in malnourished patients diagnosed with GLIM criteria.
Title: Role of irisin and myostatin on sarcopenia in malnourished patients diagnosed with GLIM criteria. Skeletal muscle myostatin mRNA expression is upregulated in aged human adults with excess adiposity but is not associated with insulin resistance and ageing.
Title: Skeletal muscle myostatin mRNA expression is upregulated in aged human adults with excess adiposity but is not associated with insulin resistance and ageing. Relation between myostatin levels and malnutrition and muscle wasting in hemodialysis patients.
Title: Relation between myostatin levels and malnutrition and muscle wasting in hemodialysis patients. Myostatin and the Heart.
Title: Myostatin and the Heart. Genetic variants in myostatin and its receptors promote elite athlete status.
Title: Genetic variants in myostatin and its receptors promote elite athlete status. Growth differentiation factor myostatin regulates epithelial-mesenchymal transition genes and enhances invasion by increasing serine protease inhibitors E1 and E2 in human trophoblast cells.
Title: Growth differentiation factor myostatin regulates epithelial-mesenchymal transition genes and enhances invasion by increasing serine protease inhibitors E1 and E2 in human trophoblast cells. Snail mediates GDF-8-stimulated human extravillous trophoblast cell invasion by upregulating MMP2 expression.
Title: Snail mediates GDF-8-stimulated human extravillous trophoblast cell invasion by upregulating MMP2 expression. Different Resistance Exercise Loading Paradigms Similarly Affect Skeletal Muscle Gene Expression Patterns of Myostatin-Related Targets and mTORC1 Signaling Markers.
Title: Different Resistance Exercise Loading Paradigms Similarly Affect Skeletal Muscle Gene Expression Patterns of Myostatin-Related Targets and mTORC1 Signaling Markers.
Products Interactant Other Gene Complex Source Pubs Description
Markers
Gdf8 (e-PCR), detects polymorphism
UniSTS:143914
MGI:3841784 (e-PCR)
UniSTS:525922
GDF8 (e-PCR), detects polymorphism
UniSTS:505475
NoName (e-PCR)
UniSTS:481929
Preferred Names growth/differentiation factor 8
Names myostatin-b
NEW Try the new Transcript table
RefSeqs maintained independently of Annotated Genomes
These reference sequences exist independently of genome builds. Explain
These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.
Genomic
NG_009800.1 RefSeqGene
Range 5001..12030 Download GenBank, FASTA, Sequence Viewer (Graphics), LRG_200
mRNA and Protein(s)
NM_005259.3 → NP_005250.1 growth/differentiation factor 8 preproprotein
See identical proteins and their annotated locations for NP_005250.1
Status: REVIEWED
Source sequence(s) AF104922, BX093210 Consensus CDS CCDS2303.1 UniProtKB/Swiss-Prot A1C2J7, A1C2K0, O14793, Q6B0H2 UniProtKB/TrEMBL A1C2E8, A1C2F0, A1C2G4 Related ENSP00000260950.3, ENST00000260950.5 Conserved Domains (2) summary
smart00204 Location:281 → 375 TGFB; Transforming growth factor-beta (TGF-beta) family
pfam00688 Location:39 → 249 TGFb_propeptide; TGF-beta propeptide
RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08
The following sections contain reference sequences that belong to a specific genome build. Explain
Reference GRCh38.p14 Primary Assembly
Genomic
NC_000002.12 Reference GRCh38.p14 Primary Assembly
Range 190055700..190062729 complement Download GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
NC_060926.1 Alternate T2T-CHM13v2.0
Range 190545060..190552089 complement Download GenBank, FASTA, Sequence Viewer (Graphics)