Mstn myostatin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mstnprovided by MGI
Official Full Name: myostatinprovided by MGI
Primary source: MGI:MGI:95691
See related: Ensembl:ENSMUSG00000026100 AllianceGenome:MGI:95691
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cmpt; Gdf8
Summary: 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. Homozygous knockout mice for this gene exhibit increased muscle mass and bone density, and reduced adiposity. [provided by RefSeq, Jul 2016]
Expression: Biased expression in mammary gland adult (RPKM 4.7), limb E14.5 (RPKM 3.1) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 1 C1.1; 1 26.99 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (53100799..53107238)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (53061640..53068079)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effects of myostatin gene knockout on white fat browning and related gene expression in type 2 diabetic mice.
Title: Effects of myostatin gene knockout on white fat browning and related gene expression in type 2 diabetic mice.
Synergistically Acting on Myostatin and Agrin Pathways Increases Neuromuscular Junction Stability and Endurance in Old Mice.
Title: Synergistically Acting on Myostatin and Agrin Pathways Increases Neuromuscular Junction Stability and Endurance in Old Mice.
Myostatin and CXCL11 promote nervous tissue macrophages to maintain osteoarthritis pain.
Title: Myostatin and CXCL11 promote nervous tissue macrophages to maintain osteoarthritis pain.
The effect of modification of DNA interference on myostatin gene expression in mice.
Title: The effect of modification of DNA interference on myostatin gene expression in mice.
Myostatin and the Heart.
Title: Myostatin and the Heart.
GDF8 inhibition enhances musculoskeletal recovery and mitigates posttraumatic osteoarthritis following joint injury.
Title: GDF8 inhibition enhances musculoskeletal recovery and mitigates posttraumatic osteoarthritis following joint injury.
Resistance exercise alleviates dexamethasone-induced muscle atrophy via Sestrin2/MSTN pathway in C57BL/6J mice.
Title: Resistance exercise alleviates dexamethasone-induced muscle atrophy via Sestrin2/MSTN pathway in C57BL/6J mice.
Divergent effects of myostatin inhibition on cardiac and skeletal muscles in a mouse model of pressure overload.
Title: Divergent effects of myostatin inhibition on cardiac and skeletal muscles in a mouse model of pressure overload.
Effects of Myostatin on Nuclear Morphology at the Myotendinous Junction.
Title: Effects of Myostatin on Nuclear Morphology at the Myotendinous Junction.
Functional substitutions of amino acids that differ between GDF11 and GDF8 impact skeletal development and skeletal muscle.
Title: Functional substitutions of amino acids that differ between GDF11 and GDF8 impact skeletal development and skeletal muscle.

Submit: New GeneRIF Correction See all GeneRIFs (259)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (7) 1 citation
Spontaneous (1) 1 citation
Targeted (13) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Mstn (e-PCR), detects polymorphism
- UniSTS:496661

Gdf8 (e-PCR), detects polymorphism
- UniSTS:143914

Mstn (e-PCR), detects polymorphism
- UniSTS:525921

MGI:3841784 (e-PCR)
- UniSTS:525922

GDF8 (e-PCR), detects polymorphism
- UniSTS:505475

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables heparin binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cellular response to dexamethasone stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in muscle cell cellular homeostasis	ISO Inferred from Sequence Orthology more info
involved_in myoblast migration involved in skeletal muscle regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of insulin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of muscle hypertrophy	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of myoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of skeletal muscle tissue growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of skeletal muscle tissue growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of skeletal muscle tissue growth	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lamellipodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of macrophage chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle satellite cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle tissue regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: growth/differentiation factor 8

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_010834.3 → NP_034964.1 growth/differentiation factor 8 preproprotein

See identical proteins and their annotated locations for NP_034964.1

Status: REVIEWED

Source sequence(s)

AK132415, AK142222

Consensus CDS

CCDS14950.1

UniProtKB/Swiss-Prot

O08689

UniProtKB/TrEMBL

Q0VGH1, Q3ZAS9, Q540E2

Related

ENSMUSP00000027269.6, ENSMUST00000027269.7

Conserved Domains (2) summary

pfam00688
Location:37 → 250

TGFb_propeptide; TGF-beta propeptide

cd19388
Location:269 → 376

TGF_beta_GDF8; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 8 (GDF8) and similar proteins