• Gene id: 2660

Gene Summary

• Gene Symbol: MSTN   Gene   UCSC   Ensembl
• Aliases: GDF8, MSLHP
• Gene name: myostatin
• Alternate names: growth/differentiation factor 8,
• Gene location: 2q32.2 (190062728: 190055699)     Exons: 3     NC_000002.12
• Gene summary(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
• OMIM: 601066

Protein Summary

• Protein general information: O14793  
  • Name: Growth/differentiation factor 8 (GDF 8) (Myostatin)
  • Length: 375  
  • Mass: 42750
• Sequence:

  MQKLQLCVYIYLFMLIVAGPVDLNENSEQKENVEKEGLCNACTWRQNTKSSRIEAIKIQILSKLRLETAPNISKD
  VIRQLLPKAPPLRELIDQYDVQRDDSSDGSLEDDDYHATTETIITMPTESDFLMQVDGKPKCCFFKFSSKIQYNK
  VVKAQLWIYLRPVETPTTVFVQILRLIKPMKDGTRYTGIRSLKLDMNPGTGIWQSIDVKTVLQNWLKQPESNLGI
  EIKALDENGHDLAVTFPGPGEDGLNPFLEVKVTDTPKRSRRDFGLDCDEHSTESRCCRYPLTVDFEAFGWDWIIA
  PKRYKANYCSGECEFVFLQKYPHTHLVHQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMVVDRCGCS

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR001111  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • PDB: 5F3B 5F3H 5NTU 5NXS
  • PDBsum: 5F3B 5F3H 5NTU 5NXS
  • STRING: ENSP00000260950
• Other Databases: GeneCards:  MSTN  Malacards:  MSTN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045662	negative regulation of myoblast differentiation	IDA	biological process
GO:0046716	muscle cell cellular homeostasis	IDA	biological process
GO:0048632	negative regulation of skeletal muscle tissue growth	IMP	biological process
GO:0051898	negative regulation of protein kinase B signaling	IDA	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0010759	positive regulation of macrophage chemotaxis	ISS	biological process
GO:0014839	myoblast migration involved in skeletal muscle regeneration	ISS	biological process
GO:0010592	positive regulation of lamellipodium assembly	ISS	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0005125	cytokine activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0008083	growth factor activity	TAS	molecular function
GO:0007517	muscle organ development	TAS	biological process
GO:1902725	negative regulation of satellite cell differentiation	ISS	biological process
GO:2000818	negative regulation of myoblast proliferation	ISS	biological process
GO:1902723	negative regulation of skeletal muscle satellite cell proliferation	ISS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0043403	skeletal muscle tissue regeneration	IEA	biological process
GO:0014850	response to muscle activity	IEA	biological process
GO:0014741	negative regulation of muscle hypertrophy	IEA	biological process
GO:0014732	skeletal muscle atrophy	IEA	biological process
GO:0009408	response to heat	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0010759	positive regulation of macrophage chemotaxis	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0048632	negative regulation of skeletal muscle tissue growth	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0022602	ovulation cycle process	IEA	biological process
GO:0009629	response to gravity	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0071549	cellular response to dexamethasone stimulus	IEA	biological process
GO:0048632	negative regulation of skeletal muscle tissue growth	IEA	biological process
GO:0046627	negative regulation of insulin receptor signaling pathway	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0033673	negative regulation of kinase activity	IEA	biological process
GO:0014839	myoblast migration involved in skeletal muscle regeneration	IEA	biological process
GO:0010592	positive regulation of lamellipodium assembly	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R