MSTN myostatin [Homo sapiens (human)] - Gene

Summary

Official Symbol: MSTNprovided by HGNC
Official Full Name: myostatinprovided by HGNC
Primary source: HGNC:HGNC:4223
See related: Ensembl:ENSG00000138379 MIM:601788; AllianceGenome:HGNC:4223
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GDF8; MSLHP
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. Mutations in this gene are associated with increased skeletal muscle mass in humans and other mammals. [provided by RefSeq, Jul 2016]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2q32.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (190055700..190062729, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (190545060..190552089, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (190920426..190927455, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Myostatin expression in lung cancer induces sarcopenia and promotes cancer progression.
Title: Myostatin expression in lung cancer induces sarcopenia and promotes cancer progression.
Sex-specific increases in myostatin and SMAD3 contribute to obesity-related insulin resistance in human skeletal muscle and primary human myotubes.
Title: Sex-specific increases in myostatin and SMAD3 contribute to obesity-related insulin resistance in human skeletal muscle and primary human myotubes.
Role of irisin and myostatin on sarcopenia in malnourished patients diagnosed with GLIM criteria.
Title: Role of irisin and myostatin on sarcopenia in malnourished patients diagnosed with GLIM criteria.
Skeletal muscle myostatin mRNA expression is upregulated in aged human adults with excess adiposity but is not associated with insulin resistance and ageing.
Title: Skeletal muscle myostatin mRNA expression is upregulated in aged human adults with excess adiposity but is not associated with insulin resistance and ageing.
Relation between myostatin levels and malnutrition and muscle wasting in hemodialysis patients.
Title: Relation between myostatin levels and malnutrition and muscle wasting in hemodialysis patients.
Myostatin and the Heart.
Title: Myostatin and the Heart.
Genetic variants in myostatin and its receptors promote elite athlete status.
Title: Genetic variants in myostatin and its receptors promote elite athlete status.
Growth differentiation factor myostatin regulates epithelial-mesenchymal transition genes and enhances invasion by increasing serine protease inhibitors E1 and E2 in human trophoblast cells.
Title: Growth differentiation factor myostatin regulates epithelial-mesenchymal transition genes and enhances invasion by increasing serine protease inhibitors E1 and E2 in human trophoblast cells.
Snail mediates GDF-8-stimulated human extravillous trophoblast cell invasion by upregulating MMP2 expression.
Title: Snail mediates GDF-8-stimulated human extravillous trophoblast cell invasion by upregulating MMP2 expression.
Different Resistance Exercise Loading Paradigms Similarly Affect Skeletal Muscle Gene Expression Patterns of Myostatin-Related Targets and mTORC1 Signaling Markers.
Title: Different Resistance Exercise Loading Paradigms Similarly Affect Skeletal Muscle Gene Expression Patterns of Myostatin-Related Targets and mTORC1 Signaling Markers.

Submit: New GeneRIF Correction See all GeneRIFs (189)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Myostatin-related muscle hypertrophy MedGen: C2931112 OMIM: 614160 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

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

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

NoName (e-PCR)
- UniSTS:481929

Gene Ontology Provided by GOA

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	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in muscle cell cellular homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in muscle organ development	TAS Traceable Author Statement more info	PubMed
involved_in myoblast migration involved in skeletal muscle regeneration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of muscle hypertrophy	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of myoblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of satellite cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of skeletal muscle satellite cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of skeletal muscle tissue growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ovulation cycle process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of lamellipodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of macrophage chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to gravity	IEA Inferred from Electronic Annotation more info
involved_in response to muscle activity	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle atrophy	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle satellite cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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

General protein information

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Preferred Names: growth/differentiation factor 8

Names: myostatin-b

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.

Genomic

NG_009800.1 RefSeqGene

Range

5001..12030

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_200

mRNA and Protein(s)

NM_005259.3 → NP_005250.1 growth/differentiation factor 8 preproprotein

See identical proteins and their annotated locations for NP_005250.1

Status: REVIEWED

Source sequence(s)

AF104922, BX093210

Consensus CDS

CCDS2303.1

UniProtKB/Swiss-Prot

A1C2J7, A1C2K0, O14793, Q6B0H2

UniProtKB/TrEMBL

A1C2E8, A1C2F0, A1C2G4, Q53S46

Related

ENSP00000260950.3, ENST00000260950.5

Conserved Domains (2) summary

smart00204
Location:281 → 375

TGFB; Transforming growth factor-beta (TGF-beta) family

pfam00688
Location:39 → 249

TGFb_propeptide; TGF-beta propeptide