ENSG00000138379


Homo sapiens

Features
Gene ID: ENSG00000138379
  
Biological name :MSTN
  
Synonyms : MSTN / myostatin / O14793
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q32.2
Gene start: 190055697
Gene end: 190062729
  
Corresponding Affymetrix probe sets: 207145_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000260950
NCBI entrez gene - 2660     See in Manteia.
OMIM - 601788
RefSeq - NM_005259
RefSeq Peptide - NP_005250
swissprot - O14793
swissprot - Q53S46
Ensembl - ENSG00000138379
  
Related genetic diseases (OMIM): 614160 - Muscle hypertrophy, 614160
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mstnaENSDARG00000042947Danio rerio
 mstnbENSDARG00000069133Danio rerio
 GDF8ENSGALG00000039458Gallus gallus
 MstnENSMUSG00000026100Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GDF11 / O95390 / growth differentiation factor 11ENSG0000013541462
TGFB2 / P61812 / transforming growth factor beta 2ENSG0000009296927
TGFB3 / P10600 / transforming growth factor beta 3ENSG0000011969927
TGFB1 / P01137 / transforming growth factor beta 1ENSG0000010532927
INHBA / P08476 / inhibin beta A subunitENSG0000012264122
GDF3 / Q9NR23 / growth differentiation factor 3ENSG0000018434421
INHBE / P58166 / inhibin beta E subunitENSG0000013926921
INHBB / P09529 / inhibin beta B subunitENSG0000016308321
INHBC / P55103 / inhibin beta C subunitENSG0000017518920
NODAL / Q96S42 / nodal growth differentiation factorENSG0000015657417
CERS1 / P27544 / ceramide synthase 1ENSG0000022380216
GDF10 / P55107 / growth differentiation factor 10ENSG0000026652416
GDF1 / P27539 / growth differentiation factor 1ENSG0000013028316
BMP3 / P12645 / bone morphogenetic protein 3ENSG0000015278515
BMP15 / O95972 / bone morphogenetic protein 15ENSG0000013038515
GDF9 / O60383 / growth differentiation factor 9ENSG0000016440414
GDF15 / Q99988 / growth differentiation factor 15ENSG0000013051311


Protein motifs (from Interpro)
Interpro ID Name
 IPR001111  TGF-beta, propeptide
 IPR001839  Transforming growth factor-beta, C-terminal
 IPR015615  Transforming growth factor-beta-related
 IPR015616  Growth/differentiation factor 8
 IPR017948  Transforming growth factor beta, conserved site
 IPR029034  Cystine-knot cytokine


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0007517 muscle organ development TAS
 biological_processGO:0009408 response to heat IEA
 biological_processGO:0009629 response to gravity IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IBA
 biological_processGO:0014732 skeletal muscle atrophy IEA
 biological_processGO:0014741 negative regulation of muscle hypertrophy IEA
 biological_processGO:0014850 response to muscle activity IEA
 biological_processGO:0022602 ovulation cycle process IEA
 biological_processGO:0033574 response to testosterone IEA
 biological_processGO:0033673 negative regulation of kinase activity IEA
 biological_processGO:0042981 regulation of apoptotic process IBA
 biological_processGO:0043403 skeletal muscle tissue regeneration IEA
 biological_processGO:0043408 regulation of MAPK cascade IBA
 biological_processGO:0043627 response to estrogen IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0045662 negative regulation of myoblast differentiation IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0046627 negative regulation of insulin receptor signaling pathway IEA
 biological_processGO:0046716 muscle cell cellular homeostasis IDA
 biological_processGO:0048468 cell development IBA
 biological_processGO:0048632 negative regulation of skeletal muscle tissue growth IMP
 biological_processGO:0051384 response to glucocorticoid IEA
 biological_processGO:0051602 response to electrical stimulus IEA
 biological_processGO:0051898 negative regulation of protein kinase B signaling IDA
 biological_processGO:0060395 SMAD protein signal transduction IBA
 biological_processGO:0071549 cellular response to dexamethasone stimulus IEA
 biological_processGO:1902723 negative regulation of skeletal muscle satellite cell proliferation ISS
 biological_processGO:1902725 negative regulation of satellite cell differentiation ISS
 biological_processGO:2000818 negative regulation of myoblast proliferation ISS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IBA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005125 cytokine activity IBA
 molecular_functionGO:0005160 transforming growth factor beta receptor binding IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity TAS
 molecular_functionGO:0008201 heparin binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0003712 Muscle hypertrophy "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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