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MSTN myostatin [ Homo sapiens (human) ]

Gene ID: 2660, updated on 3-Jun-2018
Official Symbol
MSTNprovided by HGNC
Official Full Name
myostatinprovided by HGNC
Primary source
HGNC:HGNC:4223
See related
Ensembl:ENSG00000138379 MIM:601788; Vega:OTTHUMG00000132663
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
See MSTN in Genome Data Viewer
Location:
2q32.2
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (190055700..190062729, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190920426..190927455, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 88 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 2 Neighboring gene ring finger protein 11 pseudogene 1 Neighboring gene uncharacterized LOC105373794 Neighboring gene 3-hydroxyisobutyryl-CoA hydrolase

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to dexamethasone stimulus IEA
Inferred from Electronic Annotation
more info
 
muscle cell cellular homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of kinase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
 
negative regulation of myoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of myoblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of satellite cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of skeletal muscle satellite cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of skeletal muscle tissue growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
ovulation cycle process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to gravity IEA
Inferred from Electronic Annotation
more info
 
response to heat IEA
Inferred from Electronic Annotation
more info
 
response to muscle activity IEA
Inferred from Electronic Annotation
more info
 
response to testosterone IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle atrophy IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
growth/differentiation factor 8

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

  1. NG_009800.1 RefSeqGene

    Range
    5001..12030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_200

mRNA and Protein(s)

  1. NM_005259.2NP_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
    O14793
    UniProtKB/TrEMBL
    Q53S46
    Related
    ENSP00000260950.3, OTTHUMP00000163498, ENST00000260950.4, OTTHUMT00000255917
    Conserved Domains (2) summary
    smart00204
    Location:281375
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:39249
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    190055700..190062729 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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