1. Gene
  2. MSTN - myostatin Gene

MSTN - myostatin Gene

中文名称:肌肉生长抑制素

种属: Homo sapiens

同用名: GDF8; MSLHP

基因 ID: 2660 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 TGF-β (转化生长因子-β) 蛋白质超家族的分泌配体。该家族的配体结合各种 TGF-β 受体,导致调节基因表达的 SMAD 家族转录因子的募集和激活。编码的前原蛋白经过蛋白水解处理,生成二硫键连接的同型二聚体的每个亚基。这种蛋白质负调节骨骼肌细胞增殖和分化。该基因的突变与人类和其他哺乳动物骨骼肌质量的增加有关。[RefSeq 提供,2016 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_005259.3 NP_005250.1 growth/differentiation factor 8 preproprotein
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IDA
IDA: 通过直接分析推断
27625211 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
23829672 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12595574 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
14517293 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
12595574 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MSTN 蛋白结构

TGFb_propeptide

TGFb_propeptide: TGF-beta propeptide (35 - 255)

TGF_beta

TGF_beta: Transforming growth factor beta like domain (279 - 375)

  • 0
  • 100
  • 200
  • 300
  • 375 a.a.
蛋白主名 其他名称

growth/differentiation factor 8

myostatin-b

MSTN 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
MSTN O14793 ACVR2B Homo sapiens Q13705
SPR
23829672
种属内
MSTN O14793 WFIKKN1 Homo sapiens Q96NZ8
SPR
23829672
种属内
MSTN O14793 BMP1 Homo sapiens P13497 33961781
种属内
MSTN O14793 BMP1 Homo sapiens P13497 23829672
种属内
MSTN O14793 MSTN Homo sapiens O14793 29330193
种属内
MSTN O14793 MSTN Homo sapiens O14793
GMS
29330193
种属内
MSTN O14793 MSTN Homo sapiens O14793
SPR
23829672
种属内
MSTN O14793 CELSR1 Homo sapiens Q9NYQ6 33961781
种属内
MSTN O14793 APPBP2 Homo sapiens Q92624 33961781
种属内
MSTN O14793 ADAM21 Homo sapiens Q9UKJ8 33961781
种属内
MSTN O14793 MSTN Homo sapiens O14793 29330193
种属内
MSTN O14793 MSTN Homo sapiens O14793 23829672
种属内
MSTN O14793 ADAMTS2 Homo sapiens O95450 33961781
种属内
MSTN O14793 CHPF2 Homo sapiens Q9P2E5 33961781
种属内
MSTN O14793 MSTN Homo sapiens O14793
SLS
29330193
种属内
MSTN O14793 ADAMTS7 Homo sapiens Q9UKP4 33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 MSTN 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72632 GDF-8 Protein, Human/Mouse/Rat (HEK293) O14793 (K262-S375) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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