Gene: MSTN

Basic information

Tag Content
Uniprot ID O14793; A1C2J7; A1C2K0; Q6B0H2;
Entrez ID 2660
Genbank protein ID AAH74757.2; ABI48421.1; AAB86694.1; AAC96327.1; ABI48419.1; ABI48422.1;
Genbank nucleotide ID NM_005259.2
Ensembl protein ID ENSP00000260950
Ensembl nucleotide ID ENSG00000138379
Gene name Growth/differentiation factor 8
Gene symbol MSTN
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Acts specifically as a negative regulator of skeletal muscle growth.
Sequence
MQKLQLCVYI YLFMLIVAGP VDLNENSEQK ENVEKEGLCN ACTWRQNTKS SRIEAIKIQI 60
LSKLRLETAP NISKDVIRQL LPKAPPLREL IDQYDVQRDD SSDGSLEDDD YHATTETIIT 120
MPTESDFLMQ VDGKPKCCFF KFSSKIQYNK VVKAQLWIYL RPVETPTTVF VQILRLIKPM 180
KDGTRYTGIR SLKLDMNPGT GIWQSIDVKT VLQNWLKQPE SNLGIEIKAL DENGHDLAVT 240
FPGPGEDGLN PFLEVKVTDT PKRSRRDFGL DCDEHSTESR CCRYPLTVDF EAFGWDWIIA 300
PKRYKANYCS GECEFVFLQK YPHTHLVHQA NPRGSAGPCC TPTKMSPINM LYFNGKEQII 360
YGKIPAMVVD RCGCS 375

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologMSTN281187O18836Bos taurusPredictionMore>>
1:1 orthologMSTN403433Q6UKZ8Canis lupus familiarisPredictionMore>>
1:1 orthologMSTN100860887Q6T5B8Capra hircusPredictionMore>>
1:1 orthologMSTNF6S5D9Equus caballusPredictionMore>>
1:1 orthologMSTN2660O14793Homo sapiensPredictionMore>>
1:1 orthologMstn17700O08689CPOMus musculusPublicationMore>>
1:1 orthologMSTN470605A1C2V0Pan troglodytesPredictionMore>>
1:1 orthologMSTNO18831Sus scrofaPredictionMore>>
1:1 orthologmstn100125998A7LH84Oryctolagus cuniculusPredictionMore>>
1:1 orthologMstn29152O35312Rattus norvegicusPredictionMore>>
1:1 orthologmstnb798441O42222Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005102 signaling receptor bindingIPI
GO:0005125 cytokine activityIBA
GO:0005515 protein bindingIPI
GO:0008083 growth factor activityIEA
GO:0008201 heparin bindingIEA
GO:0042802 identical protein bindingIPI
GO:0042802 identical protein bindingIDA
GO:0042803 protein homodimerization activityIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0007179 transforming growth factor beta receptor signaling pathwayIEA
GO:0007517 muscle organ developmentTAS
GO:0009408 response to heatIEA
GO:0009629 response to gravityIEA
GO:0010592 positive regulation of lamellipodium assemblyISS
GO:0010759 positive regulation of macrophage chemotaxisISS
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylationIBA
GO:0014732 skeletal muscle atrophyIEA
GO:0014741 negative regulation of muscle hypertrophyIEA
GO:0014839 myoblast migration involved in skeletal muscle regenerationISS
GO:0014850 response to muscle activityIEA
GO:0022602 ovulation cycle processIEA
GO:0033574 response to testosteroneIEA
GO:0033673 negative regulation of kinase activityIEA
GO:0043627 response to estrogenIEA
GO:0045471 response to ethanolIEA
GO:0045662 negative regulation of myoblast differentiationIDA
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0046627 negative regulation of insulin receptor signaling pathwayIEA
GO:0046716 muscle cell cellular homeostasisIDA
GO:0048632 negative regulation of skeletal muscle tissue growthIMP
GO:0051602 response to electrical stimulusIEA
GO:0051898 negative regulation of protein kinase B signalingIDA
GO:0060395 SMAD protein signal transductionIBA
GO:0071549 cellular response to dexamethasone stimulusIEA
GO:1902723 negative regulation of skeletal muscle satellite cell proliferationISS
GO:1902725 negative regulation of satellite cell differentiationISS
GO:2000818 negative regulation of myoblast proliferationISS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005615 extracellular spaceIDA
GO:0005615 extracellular spaceIBA
GO:0005623 cellIEA
GO:0005737 cytoplasmIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-212436 Generic Transcription PathwayIEA
R-HSA-73857 RNA Polymerase II TranscriptionIEA
R-HSA-74160 Gene expression (Transcription)IEA
R-HSA-9614085 FOXO-mediated transcriptionIEA
R-HSA-9617828 FOXO-mediated transcription of cell cycle genesIEA

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0165 Cleavage on pair of basic residues
KW-0202 Cytokine
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0339 Growth factor
KW-0358 Heparin-binding
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal

Interpro

InterPro ID InterPro Term
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR001111 TGF-b_propeptide
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS

PROSITE

PROSITE ID PROSITE Term
PS00250 TGF_BETA_1
PS51362 TGF_BETA_2

Pfam

Pfam ID Pfam Term
PF00019 TGF_beta
PF00688 TGFb_propeptide

Protein-protein interaction

Protein-miRNA interaction