MSTN - myostatin Gene

Also Known as GDF8; MSLHP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2660

About MSTN

Cytogenetic location: 2q32.2 Genomic coordinates (GRCh38): 2:190,055,700-190,062,729 (from NCBI)

This gene has 1 transcript (splice variant), 129 orthologues, 31 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

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]

MSTN Products (1)

mRNA	Protein	Name
NM_005259.3	NP_005250.1	growth/differentiation factor 8 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	27625211	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	23829672	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12595574	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	14517293	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in muscle cell cellular homeostasis	IDA IDA: Inferred from direct assay	19357233	GOA
involved in negative regulation of myoblast differentiation	IDA IDA: Inferred from direct assay	19357233	GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	19357233	GOA
involved in negative regulation of skeletal muscle tissue growth	IMP IMP: Inferred from mutant phenotype	15215484	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	14517293	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	12595574	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MSTN Protein Structure

TGFb_propeptide

TGF_beta

0
100
200
300
375 a.a.

Protein Preferred Names	Protein Names
growth/differentiation factor 8	myostatin-b

MSTN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MSTN	O14793	ACVR2B	Homo sapiens	Q13705	SPR	23829672
Intra	MSTN	O14793	WFIKKN1	Homo sapiens	Q96NZ8	SPR	23829672
Intra	MSTN	O14793	BMP1	Homo sapiens	P13497	Anti Tag CoIP	33961781
Intra	MSTN	O14793	BMP1	Homo sapiens	P13497	Protease Assay	23829672
Intra	MSTN	O14793	MSTN	Homo sapiens	O14793	Comigration in SDS	29330193
Intra	MSTN	O14793	MSTN	Homo sapiens	O14793	GMS	29330193
Intra	MSTN	O14793	MSTN	Homo sapiens	O14793	SPR	23829672
Intra	MSTN	O14793	CELSR1	Homo sapiens	Q9NYQ6	Anti Tag CoIP	33961781
Intra	MSTN	O14793	APPBP2	Homo sapiens	Q92624	Anti Tag CoIP	33961781
Intra	MSTN	O14793	ADAM21	Homo sapiens	Q9UKJ8	Anti Tag CoIP	33961781
Intra	MSTN	O14793	MSTN	Homo sapiens	O14793	X-Ray Diffraction	29330193
Intra	MSTN	O14793	MSTN	Homo sapiens	O14793	Comigration in Gel	23829672
Intra	MSTN	O14793	ADAMTS2	Homo sapiens	O95450	Anti Tag CoIP	33961781
Intra	MSTN	O14793	CHPF2	Homo sapiens	Q9P2E5	Anti Tag CoIP	33961781
Intra	MSTN	O14793	MSTN	Homo sapiens	O14793	SLS	29330193
Intra	MSTN	O14793	ADAMTS7	Homo sapiens	Q9UKP4	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MSTN Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72632	GDF-8 Protein, Human/Mouse/Rat (HEK293)	O14793 (K262-S375)	≥ 95%, as determined by reducing SDS-PAGE.

MSTN Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83813	MSTN Antibody (YA3510)	WB, IHC-P, FC, ELISA	Human
HY-P83813A	MSTN Antibody (YA3510)(PBS only)	IHC-P, FC, ELISA	Human
HY-P85185	GDF-8 Antibody (YA4877)	WB, ELISA	Human

Related Diseases

Diseases	Alias
Muscle Hypertrophy	MSLHP Hypertrophy Hypertrophy, Muscle
Myostatin-Related Muscle Hypertrophy	Mslhp Muscle Hypertrophy Syndrome
Myositis	Idiopathic Inflammatory Myopathy Idiopathic Inflammatory Myositis Iim Imm Idiopathic Inflammatory Myopathies Myopathy, Familial Idiopathic Inflammatory Inflammatory Disorder Of Muscle Idiopathic Inflammatory Myopathy, Familial Inflammatory Myopathy, Idiopathic Myopathies Idiopathic Inflammatory Familial Idiopathic Inflammatory Myopathy
Inclusion Body Myositis	Ibm Sporadic Inclusion Body Myositis Inflammatory Myopathy Myositis, Inclusion Body Inflammatory Myopathies Sibm Myositis Inclusion Body Nonaka Myopathy Inclusion Body Myopathy, Autosomal Recessive Inclusion Body Myopathy, Autosomal Dominant Myositis Inclusion Body Myopathy, Sporadic
Myotonia Congenita	Congenital Myotonia, Autosomal Dominant Form Congenital Myotonia Thomsen And Becker Disease Thomsen Disease Thomsen'S Disease Generalized Myotonia Of Thomsen Congenital Myotonic Muscular Dystrophy Myotonia Congenita Nos
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Rippling Muscle Disease 2	Rippling Muscle Disease Rmd Lgmd1c RMD2 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Muscular Dystrophy, Limb-Girdle, Type 1c Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly Lgmd1c, Formerly Limb-Girdle Muscular Dystrophy Type 1c Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency Muscular Dystrophy, Limb-Girdle, Type Ic Rippling Muscle Syndrome Limb-Girdle Muscular Dystrophy 1c Dystrophy, Muscular, Limb-Girdle, Type 1c Disease, Muscle, Rippling, Type 2 Rippling Muscle Disease 1
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Myopathy	Muscular Diseases Myopathies
Muscle Tissue Disease
Muscular Dystrophy, Duchenne Type	Duchenne Muscular Dystrophy DMD Muscular Dystrophy, Duchenne Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Severe Dystrophinopathy, Duchenne Type Muscular Dystrophy Duchenne Dystrophy, Muscular, Duchenne Type Benign Duchenne Muscular Dystrophy Duchenne Motor Neuron Disease Duchenne Type Dystrophy Duchenne-Griesinger Disease
Uruguay Faciocardiomusculoskeletal Syndrome	FCMSU Faciocardiomusculoskeletal Syndrome, Uruguay Type Fcms Musculoskeletal Diseases
Rhabdomyosarcoma
Myotonia
Muscular Disease
Sarcosinemia	Sarcosine Dehydrogenase Complex Deficiency Sard Deficiency Sardh Deficiency SARCOS Hypersarcosinemia Sardhd Demethylation Defect Of N-Methylglycine
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Muscular Dystrophy, Becker Type	Becker Muscular Dystrophy BMD Benign Pseudohypertrophic Muscular Dystrophy Benign Congenital Myopathy Becker Dystrophinopathy Becker'S Muscular Dystrophy Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type Muscular Dystrophy Becker Dystrophy, Muscular, Becker Type Dystrophinopathy Becker Dystrophy Becker Type Dystrophy Bmd - [Becker Muscular Dystrophy]
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy Fshd Landouzy-Dejerine Muscular Dystrophy Muscular Dystrophy, Facioscapulohumeral FSHD1 Fshd1a Muscular Dystrophy, Facioscapulohumeral, Type 1a Facioscapulohumeral Muscular Dystrophy Type 1a Fsh Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy 1a Facioscapulohumeral Atrophy Facioscapulohumeral Myopathy Muscular Dystrophy, Facioscapulohumeral, Type 1 Facioscapulohumeral Muscular Dystrophy Type 1 Landouzy Dejerine Muscular Dystrophy Muscular Dystrophy, Landouzy-Dejerine Fshmd1a Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy Facioscapulohumeral Dystrophy Fsh Dystrophy Landouzy-Dejerine Dystrophy Landouzy-Dejerine Myopathy Fmd Facioscapulohumeral Muscular Dystrophy-1a Muscular Dystrophy Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral, Type 1 Landouzy-Dejerine Disease Landouzy-Déjerine Atrophy Facioscapulohumeral Muscle Dystrophy Fmd - [Facioscapulohumeral Muscular Dystrophy] Fsh - [Facioscapulohumeral Muscular Dystrophy] Fshd - [Facioscapulohumeral Muscular Dystrophy] Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy Landouzy-Déjérine Muscular Dystrophy
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Spinal Muscular Atrophy, Type Ii	SMA2 Sma Ii Muscular Atrophy, Spinal, Intermediate Type Muscular Atrophy, Spinal, Infantile Chronic Form Intermediate Spinal Muscular Atrophy Spinal Muscular Atrophy Type Ii Spinal Muscular Atrophy-2 Spinal Muscular Atrophy 2 Spinal Muscular Atrophy Type 2 Dubowitz Disease Proximal Spinal Muscular Atrophy Type 2 Sma Type 2 Sma Type Ii Sma-Ii Spinal Muscular Atrophy Infantile Chronic Form Spinal Muscular Atrophy Intermediate Type Spinal Muscular Atrophies Of Childhood Atrophy, Muscular, Spinal, Type Ii Muscular Atrophy, Spinal, Type Ii
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Childhood Spinal Muscular Atrophy	Spinal Muscular Atrophies Of Childhood Survival Motor Neuron Spinal Muscular Atrophy
Spinal Muscular Atrophy, Type Iii	SMA3 Juvenile Spinal Muscular Atrophy Kugelberg-Welander Disease Sma Iii Kugelberg-Welander Syndrome Kws Muscular Atrophy, Juvenile Spinal Muscular Atrophy, Mild Childhood And Adolescent Form Spinal Muscular Atrophy-3 Spinal Muscular Atrophy Type 3 Spinal Muscular Atrophy, Type Iii, Modifier Of Type Iii Spinal Muscular Atrophy Sma 3 Proximal Spinal Muscular Atrophy Type 3 Sma Type 3 Sma Type Iii Sma-Iii Spinal Muscular Atrophy 3 Spinal Muscular Atrophy Mild Childhood And Adolescent Form Spinal Muscular Atrophy Type Iii Wohlfart-Kugelberg-Welander Disease Atrophy, Muscular, Spinal, Type Iii
Meier-Gorlin Syndrome 2	MGORS2 Meier-Gorlin Syndrome, Type 2
Epilepsy, Idiopathic Generalized 9	Epilepsy, Idiopathic Generalized, Susceptibility To, 9 EIG9 Epilepsy, Juvenile Myoclonic 6 Idiopathic Generalized Epilepsy 9 Epilepsy, Juvenile Myoclonic, Susceptibility To, 6 Susceptibility To Idiopathic Generalized Epilepsy 9 Juvenile Myoclonic Epilepsy 6 EJM6 Susceptibility To Juvenile Myoclonic Epilepsy 6 Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 9
Myopathy, Centronuclear, X-Linked	X-Linked Myotubular Myopathy Xlmtm X-Linked Centronuclear Myopathy Xlcnm CNMX Mtm1 Myotubular Myopathy, X-Linked Mtmx Myotubular Myopathy 1 Centronuclear Myopathy X-Linked Myotubular Myopathy Mtm Cnm Xmtm Myotubular Myopathy Type 1
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Colon Leiomyoma	Colonic Leiomyoma
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08731	MSTN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-183005	ActRIIB-IN-1		/	Unkown
HY-183504	ActRIIB-IN-3	Inhibitor	/	Unkown
HY-RS18142	Mstn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24617	Mstn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MSTN	VGNC	VGNC:43453
Felis catus	MSTN	VGNC	VGNC:63639
Bos taurus	MSTN	VGNC	VGNC:31709
Rattus norvegicus	MSTN	RGD	RGD:3115
Macaca mulatta	MSTN	VGNC	VGNC:74870
Mus musculus	MSTN	MGD	MGI:95691
Others	MSTN	NCBI