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    MSTN myostatin [ Homo sapiens (human) ]

    Gene ID: 2660, updated on 3-Dec-2017
    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
    Location:
    2q32.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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
     
    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
     
    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
     
    Process Evidence Code Pubs
    SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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
     
    regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of 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
     
    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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      190926378..190933407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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