|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alternativeName
|
myostatin
|
|
gptkbp:cleavage
|
active myostatin dimer
|
|
gptkbp:clinicalTrialPhase
|
myostatin inhibitors for muscle wasting diseases
|
|
gptkbp:discoveredBy
|
Se-Jin Lee
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodedBy
|
GDF8 gene
|
|
gptkbp:Entrez_Gene_ID
|
2660
ENSG00000138379
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
|
|
gptkbp:fullName
|
Growth Differentiation Factor 8
|
|
gptkbp:function
|
negative regulator of skeletal muscle growth
|
|
gptkbp:HGNC_ID
|
4238
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GDF8 (myostatin)
|
|
gptkbp:inhibitedBy
|
gptkb:follistatin
gptkb:decorin
GASP-1
GASP-2
muscle cell growth
|
|
gptkbp:locatedOnChromosome
|
chromosome 2q32.2 (human)
|
|
gptkbp:memberOf
|
gptkb:TGF-beta_superfamily
|
|
gptkbp:mutationAssociatedWith
|
muscle hypertrophy
C313Y (Belgian Blue cattle)
Q204X (Piedmontese cattle)
double muscling in cattle
various loss-of-function mutations in humans
|
|
gptkbp:OMIM
|
gptkb:601788
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
cattle GDF8
mouse Gdf8
sheep GDF8
|
|
gptkbp:pathway
|
gptkb:TGF-beta_signaling_pathway
|
|
gptkbp:PDB
|
3HH2
|
|
gptkbp:recipient
|
gptkb:ALK5
gptkb:ALK4
activin type II receptor
|
|
gptkbp:regulates
|
muscle mass
|
|
gptkbp:significance
|
associated with muscle hypertrophy syndromes
potential target for muscle wasting therapy
|
|
gptkbp:species
|
gptkb:dog
gptkb:fish
gptkb:horse_race
gptkb:human
gptkb:livestock
gptkb:mouse
|
|
gptkbp:symbol
|
GDF8
|
|
gptkbp:target
|
gptkb:follistatin
antibodies
|
|
gptkbp:type
|
gptkb:SMAD2/3_pathway
|
|
gptkbp:UniProtID
|
O14793
|
|
gptkbp:bfsParent
|
gptkb:TGF-beta_superfamily
|
|
gptkbp:bfsLayer
|
7
|