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Aliases for MSTN Gene

Aliases for MSTN Gene

  • Myostatin 2 3 4
  • GDF8 3 4 6
  • Growth Differentiation Factor 8 2 3
  • MSLHP 3 6
  • GDF-8 3 4
  • Growth/Differentiation Factor 8 3

External Ids for MSTN Gene

Previous HGNC Symbols for MSTN Gene

  • GDF8

Previous GeneCards Identifiers for MSTN Gene

  • GC02M190629
  • GC02M190920
  • GC02M182780

Summaries for MSTN Gene

Entrez Gene Summary for MSTN Gene

  • 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]

GeneCards Summary for MSTN Gene

MSTN (Myostatin) is a Protein Coding gene. Diseases associated with MSTN include muscle hypertrophy and myostatin-related muscle hypertrophy. Among its related pathways are TGF-beta Signaling Pathway (sino) and Hypertrophy Model. GO annotations related to this gene include identical protein binding and cytokine activity. An important paralog of this gene is INHBB.

UniProtKB/Swiss-Prot for MSTN Gene

  • Acts specifically as a negative regulator of skeletal muscle growth

Gene Wiki entry for MSTN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSTN Gene

Genomics for MSTN Gene

Regulatory Elements for MSTN Gene

Genomic Location for MSTN Gene

Start:
190,055,697 bp from pter
End:
190,062,729 bp from pter
Size:
7,033 bases
Orientation:
Minus strand

Genomic View for MSTN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MSTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSTN Gene

Proteins for MSTN Gene

  • Protein details for MSTN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14793-GDF8_HUMAN
    Recommended name:
    Growth/differentiation factor 8
    Protein Accession:
    O14793
    Secondary Accessions:
    • A1C2J7
    • A1C2K0
    • Q6B0H2

    Protein attributes for MSTN Gene

    Size:
    375 amino acids
    Molecular mass:
    42750 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (By similarity). Interacts with WFIKKN2, leading to inhibit its activity. Interacts with FST3.

neXtProt entry for MSTN Gene

Proteomics data for MSTN Gene at MOPED

Post-translational modifications for MSTN Gene

  • Glycosylation at Asn71
  • Modification sites at PhosphoSitePlus

Other Protein References for MSTN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MSTN Gene

Domains for MSTN Gene

Suggested Antigen Peptide Sequences for MSTN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14793

UniProtKB/Swiss-Prot:

GDF8_HUMAN :
  • O14793
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with MSTN: view

No data available for Gene Families for MSTN Gene

Function for MSTN Gene

Molecular function for MSTN Gene

UniProtKB/Swiss-Prot Function: Acts specifically as a negative regulator of skeletal muscle growth

Gene Ontology (GO) - Molecular Function for MSTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 14517293
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding IPI 23829672
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with MSTN: view
genes like me logo Genes that share phenotypes with MSTN: view

Animal Models for MSTN Gene

MGI Knock Outs for MSTN:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for MSTN Gene

Localization for MSTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSTN Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MSTN Gene COMPARTMENTS Subcellular localization image for MSTN gene
Compartment Confidence
extracellular 5
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MSTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MSTN: view

Pathways for MSTN Gene

genes like me logo Genes that share pathways with MSTN: view

Pathways by source for MSTN Gene

1 Sino Biological pathway for MSTN Gene
1 BioSystems pathway for MSTN Gene

Gene Ontology (GO) - Biological Process for MSTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0007179 transforming growth factor beta receptor signaling pathway IEA --
GO:0007517 muscle organ development TAS 9843994
GO:0009408 response to heat IEA --
GO:0009629 response to gravity IEA --
genes like me logo Genes that share ontologies with MSTN: view

Compounds for MSTN Gene

(8) Novoseek inferred chemical compound relationships for MSTN Gene

Compound -log(P) Hits PubMed IDs
testosterone 24.5 22
rapamycin 16.4 3
glycerol 3-phosphate 13.2 2
oxygen 2.06 2
ribonucleic acid 0 1
genes like me logo Genes that share compounds with MSTN: view

Transcripts for MSTN Gene

mRNA/cDNA for MSTN Gene

(2) REFSEQ mRNAs :
(13) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MSTN Gene

Myostatin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MSTN Gene

No ASD Table

Relevant External Links for MSTN Gene

GeneLoc Exon Structure for
MSTN
ECgene alternative splicing isoforms for
MSTN

Expression for MSTN Gene

mRNA expression in normal human tissues for MSTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MSTN Gene

This gene is overexpressed in Muscle - Skeletal (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MSTN Gene

SOURCE GeneReport for Unigene cluster for MSTN Gene Hs.41565

genes like me logo Genes that share expressions with MSTN: view

No data available for mRNA Expression by UniProt/SwissProt for MSTN Gene

Orthologs for MSTN Gene

This gene was present in the common ancestor of animals.

Orthologs for MSTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MSTN 35
  • 99.82 (n)
  • 99.73 (a)
MSTN 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MSTN 35
  • 91.82 (n)
  • 94.13 (a)
MSTN 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MSTN 35
  • 91.73 (n)
  • 95.73 (a)
MSTN 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mstn 35
  • 91.82 (n)
  • 96.27 (a)
Mstn 16
Mstn 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MSTN 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 25 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Mstn 35
  • 90.67 (n)
  • 94.93 (a)
chicken
(Gallus gallus)
Aves GDF8 36
  • 92 (a)
OneToOne
MSTN 35
  • 84.98 (n)
  • 92 (a)
lizard
(Anolis carolinensis)
Reptilia MSTN 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496408 35
  • 74.53 (n)
  • 77.24 (a)
zebrafish
(Danio rerio)
Actinopterygii mstna 36
  • 61 (a)
OneToMany
mstnb 35
  • 65.94 (n)
  • 69.67 (a)
mstnb 36
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta myo 35
  • 45.3 (n)
  • 36.22 (a)
myo 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for MSTN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MSTN Gene

ENSEMBL:
Gene Tree for MSTN (if available)
TreeFam:
Gene Tree for MSTN (if available)

Paralogs for MSTN Gene

Paralogs for MSTN Gene

Selected SIMAP similar genes for MSTN Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MSTN: view

Variants for MSTN Gene

Sequence variations from dbSNP and Humsavar for MSTN Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
VAR_014475 -
VAR_014476 -
VAR_052575 -
VAR_052576 -

Relevant External Links for MSTN Gene

HapMap Linkage Disequilibrium report
MSTN
Human Gene Mutation Database (HGMD)
MSTN
Locus Specific Mutation Databases (LSDB)
MSTN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MSTN Gene

Disorders for MSTN Gene

(1) OMIM Diseases for MSTN Gene (601788)

UniProtKB/Swiss-Prot

GDF8_HUMAN
  • Muscle hypertrophy (MSLHP) [MIM:614160]: A condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong. {ECO:0000269 PubMed:15215484}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MSTN Gene

(23) Novoseek inferred disease relationships for MSTN Gene

Disease -log(P) Hits PubMed IDs
lgmd1c 78.3 6
muscular dystrophies 74.4 20
hypertrophy 73.6 39
atrophy disuse 67.1 2
atrophy 66.3 40

Relevant External Links for MSTN

GeneTests
MSTN
GeneReviews
MSTN
Genetic Association Database (GAD)
MSTN
Human Genome Epidemiology (HuGE) Navigator
MSTN
genes like me logo Genes that share disorders with MSTN: view

Publications for MSTN Gene

  1. Frequent sequence variation in the human myostatin (GDF8) gene as a marker for analysis of muscle-related phenotypes. (PMID: 10610713) Ferrell R.E. … Hurley B.F. (Genomics 1999) 2 3 23
  2. Regulation of myostatin in vivo by growth and differentiation factor- associated serum protein-1: a novel protein with protease inhibitor and follistatin domains. (PMID: 12595574) Hill J.J. … Wolfman N.M. (Mol. Endocrinol. 2003) 3 4 23
  3. Myostatin mutation associated with gross muscle hypertrophy in a child. (PMID: 15215484) Schuelke M. … Lee S.J. (N. Engl. J. Med. 2004) 3 4 23
  4. Human adaptive evolution at myostatin (GDF8), a regulator of muscle growth. (PMID: 17186467) Saunders M.A. … Nachman M.W. (Am. J. Hum. Genet. 2006) 3 4 23
  5. Organization of the human myostatin gene and expression in healthy men and HIV-infected men with muscle wasting. (PMID: 9843994) Gonzalez-Cadavid N.F. … Bhasin S. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 23

Products for MSTN Gene

Sources for MSTN Gene

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