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    MSTN myostatin [ Homo sapiens (human) ]

    Gene ID: 2660, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MSTN in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (190055700..190062729, complement)
    RS_2024_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_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 88 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16858 Neighboring gene ring finger protein 11 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:191045543-191046342 Neighboring gene 3-hydroxyisobutyryl-CoA hydrolase Neighboring gene Sharpr-MPRA regulatory region 4599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:191144703-191145674 Neighboring gene serine/arginine repetitive matrix protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12177 Neighboring gene inositol polyphosphate-1-phosphatase

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle cell cellular homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in myoblast migration involved in skeletal muscle regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of muscle hypertrophy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of myoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of myoblast proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of satellite cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of skeletal muscle satellite cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of skeletal muscle tissue growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ovulation cycle process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of lamellipodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of macrophage chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to gravity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to muscle activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle atrophy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle satellite cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    growth/differentiation factor 8
    Names
    myostatin-b

    NCBI Reference Sequences (RefSeq)

    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

    1. NG_009800.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_005259.3NP_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, Q53S46
      Related
      ENSP00000260950.3, ENST00000260950.5
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      190545060..190552089 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)