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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
  • Growth/Differentiation Factor 8 3
  • 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 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 Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling and Hypertrophy Model. GO annotations related to this gene include identical protein binding and cytokine activity. An important paralog of this gene is GDF11.

UniProtKB/Swiss-Prot for MSTN Gene

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

Gene Wiki entry for MSTN Gene

Additional gene information for MSTN Gene

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

Genomics for MSTN Gene

Regulatory Elements for MSTN Gene

Enhancers for MSTN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H191012 1.7 FANTOM5 ENCODE dbSUPER 11.6 -951.0 -950971 4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 LOC105373805 MSTN NAB1 GLS NEMP2 STAT1 HIBCH STAT4 GC02P191016 LOC100420571
GH02H191018 1.7 Ensembl ENCODE dbSUPER 11.6 -958.3 -958342 6 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A LOC105373805 MSTN GLS STAT1 NEMP2
GH02H189641 0.6 ENCODE 10.4 +421.5 421540 0 SIX4 PKNOX1 FEZF1 DPF2 FOXA1 OSR2 GATA3 BCL6B CUX1 TRIM28 ORMDL1 ASNSD1 MSTN ENSG00000276828
GH02H190136 0.8 ENCODE 0.2 -73.8 -73771 0 ELF3 SOX13 FOXA2 ATF1 MLX ARID4B ZKSCAN1 TEAD3 LCORL FOXK2 LOC105373794 MSTN
GH02H190093 0.4 Ensembl 0.3 -31.3 -31272 0 L3MBTL2 MSTN LOC105373794
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MSTN on UCSC Golden Path with GeneCards custom track

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 (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

  • Glycosylation at Asn71
  • Modification sites at PhosphoSitePlus

Other Protein References for MSTN Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein Products

Assay Products

No data available for DME Specific Peptides for MSTN Gene

Domains & Families for MSTN Gene

Gene Families for MSTN Gene

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

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

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 receptor binding IPI 14517293
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding IPI 12595574
GO:0008083 growth factor activity IEA,TAS --
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for MSTN

CRISPR Products

miRNA for MSTN Gene

miRTarBase miRNAs that target MSTN

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MSTN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 2
mitochondrion 2
nucleus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
lysosome 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 IDA,IBA 12595574
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

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:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IBA --
genes like me logo Genes that share ontologies with MSTN: view

Drugs & Compounds for MSTN Gene

(6) 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

(3) 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 :
(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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MSTN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for MSTN Gene



Protein tissue co-expression partners for MSTN Gene

NURSA nuclear receptor signaling pathways regulating expression of MSTN Gene:

MSTN

SOURCE GeneReport for Unigene cluster for MSTN Gene:

Hs.41565

Evidence on tissue expression from TISSUES for MSTN Gene

  • Muscle(4.7)
  • Intestine(4.1)
  • Heart(2)

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

Primer 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 33 34
  • 99.82 (n)
cow
(Bos Taurus)
Mammalia MSTN 33 34
  • 91.82 (n)
mouse
(Mus musculus)
Mammalia Mstn 33 16 34
  • 91.82 (n)
dog
(Canis familiaris)
Mammalia MSTN 33 34
  • 91.73 (n)
rat
(Rattus norvegicus)
Mammalia Mstn 33
  • 90.67 (n)
oppossum
(Monodelphis domestica)
Mammalia MSTN 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 25 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GDF8 34
  • 92 (a)
OneToOne
MSTN 33
  • 84.98 (n)
lizard
(Anolis carolinensis)
Reptilia MSTN 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496408 33
  • 74.53 (n)
zebrafish
(Danio rerio)
Actinopterygii mstnb 33 34
  • 65.94 (n)
mstna 34
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta myo 33 34
  • 45.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
OneToMany
Species where no ortholog for MSTN was found in the sources mined by GeneCards:
  • 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
rs1805086 Pathogenic 190,060,351(-) AGTAA(A/G)GGCCC intron-variant, reference, missense
rs397515373 Pathogenic 190,062,219(-) TGTAA(A/G)TAGTC intron-variant
rs114597606 Likely benign 190,056,684(+) CCTAT(C/T)GTATT intron-variant, utr-variant-3-prime
rs138343163 Likely benign 190,062,334(+) GTTCC(C/T)GGAGT intron-variant, reference, missense
rs142195885 Likely benign 190,060,423(+) CTTGC(A/C)TTAGA intron-variant, reference, missense

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

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

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

Disorder Aliases PubMed IDs
muscle hypertrophy
  • myostatin-related muscle hypertrophy
myostatin-related muscle hypertrophy
  • mslhp
muscular dystrophy, limb-girdle, type ic
  • autosomal dominant limb-girdle muscular dystrophy type 1c
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 MA … Nachman MW (American journal of human genetics 2006) 3 4 22 60
  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 JJ … Wolfman NM (Molecular endocrinology (Baltimore, Md.) 2003) 3 4 22 60
  3. 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 22 60
  4. Organization of the human myostatin gene and expression in healthy men and HIV-infected men with muscle wasting. (PMID: 9843994) Gonzalez-Cadavid NF … Bhasin S (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 22 60
  5. Beyond CDR-grafting: Structure-guided humanization of framework and CDR regions of an anti-myostatin antibody. (PMID: 27625211) Apgar JR … Tchistiakova L (mAbs 2016) 3 4 60

Products for MSTN Gene

Sources for MSTN Gene

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