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MSTN myostatin [ Homo sapiens (human) ]

Gene ID: 2660, updated on 19-Jul-2014
Official Symbol
MSTNprovided by HGNC
Official Full Name
myostatinprovided by HGNC
Primary source
HGNC:4223
See related
Ensembl:ENSG00000138379; HPRD:03474; 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
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. This gene is thought to encode a secreted protein which negatively regulates skeletal muscle growth. [provided by RefSeq, Jul 2008]
See MSTN in Epigenomics, MapViewer
Location:
2q32.2
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 3-hydroxyisobutyryl-CoA hydrolase Neighboring gene inositol polyphosphate-1-phosphatase

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 IEA
Inferred from Electronic Annotation
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
 
negative regulation of skeletal muscle tissue growth IEA
Inferred from Electronic Annotation
more info
 
ovulation cycle process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
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 glucocorticoid 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 IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
growth/differentiation factor 8
Names
growth/differentiation factor 8
GDF-8
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 

    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 precursor

    See proteins identical to NP_005250.1

    Status: REVIEWED

    Source sequence(s)
    AF104922, BX093210
    Consensus CDS
    CCDS2303.1
    UniProtKB/Swiss-Prot
    O14793
    UniProtKB/TrEMBL
    Q53S46
    Related
    ENSP00000260950, OTTHUMP00000163498, ENST00000260950, OTTHUMT00000255917
    Conserved Domains (2) summary
    smart00204
    Location:281375
    Blast Score: 376
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:33256
    Blast Score: 469
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

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

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    182780433..182787462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

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