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 homo... See more...

Aliases for MSTN Gene

Aliases for MSTN Gene

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

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 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]

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 PEDF Induced Signaling and Hypertrophy Model. Gene Ontology (GO) annotations related to this gene include identical protein binding and cytokine activity. An important paralog of this gene is GDF11.

UniProtKB/Swiss-Prot Summary for MSTN Gene

  • Acts specifically as a negative regulator of skeletal muscle growth.

Gene Wiki entry for MSTN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MSTN Gene

Genomics for MSTN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MSTN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J190062 Promoter 1 EPDnew Ensembl CraniofacialAtlas 600.7 +1.0 1028 2.6 MSTN ASNSD1 ANKAR C2orf88 ORMDL1 RF00017-3389 lnc-C2orf88-1
GH02J191011 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 -951.0 -950970 4.6 RNF2 CEBPG SP1 HNRNPL CREB1 GATAD2A TEAD4 ZNF629 TFE3 NFKBIZ STAT1 MF281465 lnc-GLS-3 LOC105373805 MSTN NAB1 GLS NEMP2 HIBCH STAT4
GH02J191018 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 -958.3 -958340 6.1 ZNF221 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 TFE3 LEF1 LOC105373805 STAT1 lnc-GLS-2 NEMP2 MSTN GLS ENSG00000230686 LOC107985785 lnc-STAT4-3 STAT4
GH02J189641 Enhancer 0.7 Ensembl ENCODE 10.4 +421.5 421528 0.4 FOXA1 OSR2 PKNOX1 CUX1 GATA3 DPF2 SIX4 FEZF1 TRIM28 BCL6B ORMDL1 ASNSD1 MSTN ENSG00000276828 piR-42700-071 SLC40A1
GH02J189624 Enhancer 0.5 Ensembl 10.4 +437.9 437928 0.8 PRDM1 WT1 SIX4 FOSL2 FOS JUND EGR2 ENSG00000276828 ASNSD1 MSTN lnc-SLC40A1-3 SLC40A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MSTN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MSTN

Top Transcription factor binding sites by QIAGEN in the MSTN gene promoter:
  • AP-4
  • FOXO1
  • FOXO1a
  • Ik-3
  • Lhx3a
  • LHX3b
  • MRF-2
  • NF-kappaB1
  • Nkx6-1
  • TGIF

Genomic Locations for MSTN Gene

Genomic Locations for MSTN Gene
chr2:190,055,700-190,062,729
(GRCh38/hg38)
Size:
7,030 bases
Orientation:
Minus strand
chr2:190,920,423-190,927,455
(GRCh37/hg19)
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 (PubMed:27625211). Interacts with WFIKKN2, leading to inhibit its activity (PubMed:12595574). Interacts with FST3 (PubMed:17878677).

    Three dimensional structures from OCA and Proteopedia for MSTN Gene

neXtProt entry for MSTN Gene

Post-translational modifications for MSTN Gene

  • Synthesized as large precursor molecule that undergoes proteolytic cleavage to generate an N-terminal propeptide and a disulfide linked C-terminal dimer, which is the biologically active molecule. The circulating form consists of a latent complex of the C-terminal dimer and other proteins, including its propeptide, which maintain the C-terminal dimer in a latent, inactive state. Ligand activation requires additional cleavage of the prodomain by a tolloid-like metalloproteinase.
  • Glycosylation at Asn71
  • Modification sites at PhosphoSitePlus

Other Protein References for MSTN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MSTN Gene

Domains & Families for MSTN Gene

Gene Families for MSTN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for MSTN Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb), N-terminal
  • Transforming growth factor beta (TGFb)
ProtoNet:

Suggested Antigen Peptide Sequences for MSTN Gene

GenScript: Design optimal peptide antigens:
  • Myostatin (A1C2E7_HUMAN)
  • Myostatin (A1C2E8_HUMAN)
  • Myostatin (A1C2F0_HUMAN)
  • Myostatin (A1C2F2_HUMAN)
  • Myostatin (A1C2F7_HUMAN)

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

Function for MSTN Gene

Molecular function for MSTN Gene

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

Phenotypes From GWAS Catalog for MSTN Gene

Gene Ontology (GO) - Molecular Function for MSTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA,IPI 14517293
GO:0005125 cytokine activity IBA 21873635
GO:0005515 protein binding IPI 12595574
GO:0008083 growth factor activity TAS,IEA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with MSTN: view
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:
  • Mstn Mstn<tm1Sjl>
  • Mstn Mstn<tm1.1Mgs>
  • Mstn Mstn<tm1.1Swel>

Animal Model Products

CRISPR Products

miRNA for MSTN Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSTN

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MSTN gene
Compartment Confidence
extracellular 5
cytoskeleton 3
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MSTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA,IDA 12595574
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MSTN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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

SIGNOR curated interactions for MSTN Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MSTN Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0010592 positive regulation of lamellipodium assembly IEA,ISS --
genes like me logo Genes that share ontologies with MSTN: view

Drugs & Compounds for MSTN Gene

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

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

(4) 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

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSTN

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

No ASD Table

Relevant External Links for MSTN Gene

GeneLoc Exon Structure for
MSTN

Expression for MSTN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for MSTN Gene



Protein tissue co-expression partners for MSTN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MSTN

SOURCE GeneReport for Unigene cluster for MSTN Gene:

Hs.41565

Evidence on tissue expression from TISSUES for MSTN Gene

  • Muscle(4.7)
  • Intestine(4.4)
  • Heart(2.8)
  • Blood(2.7)
  • Kidney(2.7)
  • Nervous system(2.7)
  • Skin(2.5)
  • Pancreas(2.5)
  • Liver(2.4)
  • Bone(2.3)
  • Lung(2.1)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MSTN Gene

Germ Layers:
  • mesoderm
Systems:
  • skeletal muscle
genes like me logo Genes that share expression patterns 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 30 31
  • 99.82 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mstn 30 17 31
  • 91.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MSTN 30 31
  • 91.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MSTN 30 31
  • 91.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mstn 30
  • 90.67 (n)
Oppossum
(Monodelphis domestica)
Mammalia MSTN 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 25 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves GDF8 31
  • 92 (a)
OneToOne
MSTN 30
  • 84.98 (n)
Lizard
(Anolis carolinensis)
Reptilia MSTN 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100496408 30
  • 74.53 (n)
Zebrafish
(Danio rerio)
Actinopterygii mstnb 30 31
  • 65.94 (n)
OneToMany
mstna 31
  • 61 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta myo 30 31
  • 45.3 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToMany
Species where no ortholog for MSTN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MSTN: view image

Paralogs for MSTN Gene

(2) SIMAP similar genes for MSTN Gene using alignment to 1 proteins:

  • GDF8_HUMAN
genes like me logo Genes that share paralogs with MSTN: view

Variants for MSTN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MSTN Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
790510 Benign: not provided 190,057,588(-) C/T SYNONYMOUS_VARIANT
895418 Uncertain Significance: Muscle hypertrophy 190,056,195(-) T/C THREE_PRIME_UTR_VARIANT
895419 Uncertain Significance: Muscle hypertrophy 190,056,474(-) C/T THREE_PRIME_UTR_VARIANT
895420 Uncertain Significance: Muscle hypertrophy 190,056,563(-) T/G THREE_PRIME_UTR_VARIANT
895482 Uncertain Significance: Muscle hypertrophy 190,060,356(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MSTN Gene

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)

Additional Variant Information for MSTN Gene

Human Gene Mutation Database (HGMD)
MSTN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MSTN

SNP Genotyping and Copy Number Assay Products

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

(32) MalaCards diseases for MSTN Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscle hypertrophy
  • mslhp
myostatin-related muscle hypertrophy
  • mslhp
alcoholic cardiomyopathy
  • alcohol-induced heart muscle disease
myotonia congenita
  • thomsen disease
rippling muscle disease 2
  • rippling muscle disease 1
- 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.

Additional Disease Information for MSTN

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

No data available for Genatlas for MSTN Gene

Publications for MSTN Gene

  1. Does the polygenic profile determine the potential for becoming a world-class athlete? Insights from the sport of rowing. (PMID: 19422651) Santiago C … Lucia A (Scandinavian journal of medicine & science in sports 2010) 3 23 41
  2. Myostatin and follistatin polymorphisms interact with muscle phenotypes and ethnicity. (PMID: 19346981) Kostek MA … Pescatello LS (Medicine and science in sports and exercise 2009) 3 23 41
  3. Human adaptive evolution at Myostatin (GDF8), a regulator of muscle growth. (PMID: 17186467) Saunders MA … Nachman MW (American journal of human genetics 2006) 3 4 23
  4. 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 JJ … Wolfman NM (Molecular endocrinology (Baltimore, Md.) 2003) 3 4 23
  5. Frequent sequence variation in the human myostatin (GDF8) gene as a marker for analysis of muscle-related phenotypes. (PMID: 10610713) Ferrell RE … Hurley BF (Genomics 1999) 2 3 23

Products for MSTN Gene

Sources for MSTN Gene