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Aliases for MSTN Gene

Aliases for MSTN Gene

  • Myostatin 2 3 4 5
  • GDF8 3 4
  • Growth Differentiation Factor 8 2
  • MSLHP 3
  • GDF-8 4

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

  • This gene encodes a member of the TGF-beta (transforming growth factor-beta) family of proteins. The encoded preproprotein is proteolytically processed to generate an N-terminal propeptide and a C-terminal subunit. The C-terminal subunits form the mature homodimer, which 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, Nov 2015]

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

Chromosome:
2
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

Genes around MSTN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSTN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 71
  • Modification sites at PhosphoSitePlus

Other Protein References for MSTN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for MSTN (GDF-8/Myostatin)

No data available for DME Specific Peptides for MSTN Gene

Domains & Families for MSTN Gene

Suggested Antigen Peptide Sequences for MSTN Gene

Graphical View of Domain Structure for InterPro Entry

O14793

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for MSTN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MSTN Gene

MGI Knock Outs for MSTN:

Animal Model Products

miRNA for MSTN Gene

miRTarBase miRNAs that target MSTN

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
mitochondrion 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for MSTN Gene

Pathways & Interactions 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

SIGNOR curated interactions for MSTN Gene

Is inactivated by:

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

Drugs & Compounds for MSTN Gene

(4) Drugs for MSTN Gene - From: Novoseek and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MYO-029 Investigational Pharma Target 0

(5) Additional Compounds for MSTN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MSTN: view

Transcripts for MSTN Gene

mRNA/cDNA for MSTN Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(13) Selected AceView cDNA 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 (x5.1).

Protein differential expression in normal tissues from HIPED for MSTN Gene

This gene is overexpressed in Vitreous humor (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MSTN: view

Protein tissue co-expression partners for MSTN Gene

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
MSTN 35
  • 99.82 (n)
  • 99.73 (a)
cow
(Bos Taurus)
Mammalia MSTN 36
  • 94 (a)
OneToOne
MSTN 35
  • 91.82 (n)
  • 94.13 (a)
dog
(Canis familiaris)
Mammalia MSTN 35
  • 91.73 (n)
  • 95.73 (a)
MSTN 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mstn 16
Mstn 36
  • 96 (a)
OneToOne
Mstn 35
  • 91.82 (n)
  • 96.27 (a)
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 MSTN 35
  • 84.98 (n)
  • 92 (a)
GDF8 36
  • 92 (a)
OneToOne
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 36
  • 68 (a)
OneToMany
mstnb 35
  • 65.94 (n)
  • 69.67 (a)
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

(2) 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
VAR_014475 -
VAR_014476 -
VAR_052575 -
VAR_052576 -

Variation tolerance for MSTN Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.88; 74.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MSTN Gene

HapMap Linkage Disequilibrium report
MSTN
Human Gene Mutation Database (HGMD)
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

MalaCards: The human disease database

(13) MalaCards diseases for MSTN Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscle hypertrophy
  • muscle hypertrophy syndrome
myostatin-related muscle hypertrophy
  • muscle hypertrophy syndrome
myotonia congenita
  • congenital myotonia, autosomal dominant form
duchenne muscular dystrophy
  • muscular dystrophy, duchenne
alcoholic cardiomyopathy
  • alcohol-induced heart muscle disease
- elite association - COSMIC cancer census association via MalaCards
Search MSTN in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for MSTN

Genetic Association Database (GAD)
MSTN
Human Genome Epidemiology (HuGE) Navigator
MSTN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MSTN
genes like me logo Genes that share disorders with MSTN: view

No data available for Genatlas for MSTN Gene

Publications for MSTN Gene

  1. 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 67
  2. 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
  3. Increased secretion and expression of myostatin in skeletal muscle from extremely obese women. (PMID: 18835929) Hittel D.S. … Houmard J.A. (Diabetes 2009) 3 23
  4. Myostatin reduces Akt/TORC1/p70S6K signaling, inhibiting myoblast differentiation and myotube size. (PMID: 19357233) Trendelenburg A.U. … Glass D.J. (Am. J. Physiol., Cell Physiol. 2009) 3 23
  5. Atrogin-1, MuRF1, and FoXO, as well as phosphorylated GSK-3beta and 4E-BP1 are reduced in skeletal muscle of chronic spinal cord-injured patients. (PMID: 19533653) LAcger B. … Russell A.P. (Muscle Nerve 2009) 3 23

Products for MSTN Gene

Sources for MSTN Gene

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