Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2660
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol MSTN   Gene   UCSC   Ensembl
Aliases GDF8, MSLHP
Gene name myostatin
Alternate names growth/differentiation factor 8,
Gene location 2q32.2 (49046245: 49096959)     Exons: 25     NC_000020.11
Gene summary(Entrez) 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]
OMIM 601788

Protein Summary

Protein general information O14793  

Name: Growth/differentiation factor 8 (GDF-8) (Myostatin)

Length: 375  Mass: 42,750

Sequence MQKLQLCVYIYLFMLIVAGPVDLNENSEQKENVEKEGLCNACTWRQNTKSSRIEAIKIQILSKLRLETAPNISKD
VIRQLLPKAPPLRELIDQYDVQRDDSSDGSLEDDDYHATTETIITMPTESDFLMQVDGKPKCCFFKFSSKIQYNK
VVKAQLWIYLRPVETPTTVFVQILRLIKPMKDGTRYTGIRSLKLDMNPGTGIWQSIDVKTVLQNWLKQPESNLGI
EIKALDENGHDLAVTFPGPGEDGLNPFLEVKVTDTPKRSRRDFGLDCDEHSTESRCCRYPLTVDFEAFGWDWIIA
PKRYKANYCSGECEFVFLQKYPHTHLVHQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMVVDRCGCS
Structural information
Interpro:  IPR029034 IPR015616 IPR001839 IPR001111 IPR015615 IPR017948
Prosite:   PS00250 PS51362

Pfam:  
PF00019 PF00688

PDB:  
5F3B 5F3H 5NTU 5NXS
PDBsum:   5F3B 5F3H 5NTU 5NXS
MINT:  
STRING:   ENSP00000260950;
Other Databases GeneCards:  MSTN;  Malacards:  MSTN

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0002230 positive regulation of de
fense response to virus b
y host
IMP biological_process
GO:0005102 receptor binding
IPI molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005125 cytokine activity
IBA molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IBA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IEA biological_process
GO:0007517 muscle organ development
TAS biological_process
GO:0008083 growth factor activity
IEA molecular_function
GO:0008201 heparin binding
IEA molecular_function
GO:0009408 response to heat
IEA biological_process
GO:0009629 response to gravity
IEA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IBA biological_process
GO:0014732 skeletal muscle atrophy
IEA biological_process
GO:0014741 negative regulation of mu
scle hypertrophy
IEA biological_process
GO:0014850 response to muscle activi
ty
IEA biological_process
GO:0022602 ovulation cycle process
IEA biological_process
GO:0033574 response to testosterone
IEA biological_process
GO:0033673 negative regulation of ki
nase activity
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042981 regulation of apoptotic p
rocess
IBA biological_process
GO:0043403 skeletal muscle tissue re
generation
IEA biological_process
GO:0043408 regulation of MAPK cascad
e
IBA biological_process
GO:0043627 response to estrogen
IEA biological_process
GO:0045471 response to ethanol
IEA biological_process
GO:0045662 negative regulation of my
oblast differentiation
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0046627 negative regulation of in
sulin receptor signaling
pathway
IEA biological_process
GO:0046716 muscle cell cellular home
ostasis
IDA biological_process
GO:0048468 cell development
IBA biological_process
GO:0048632 negative regulation of sk
eletal muscle tissue grow
th
IMP biological_process
GO:0051602 response to electrical st
imulus
IEA biological_process
GO:0051898 negative regulation of pr
otein kinase B signaling
IDA biological_process
GO:0060395 SMAD protein signal trans
duction
IBA biological_process
GO:0071549 cellular response to dexa
methasone stimulus
IEA biological_process
GO:0098779 mitophagy in response to
mitochondrial depolarizat
ion
IGI biological_process
GO:0098792 xenophagy
IMP biological_process
GO:1902723 negative regulation of sk
eletal muscle satellite c
ell proliferation
ISS biological_process
GO:1902725 negative regulation of sa
tellite cell differentiat
ion
ISS biological_process
GO:2000818 negative regulation of my
oblast proliferation
ISS biological_process
GO:0002230 positive regulation of de
fense response to virus b
y host
IMP biological_process
GO:0005102 receptor binding
IEA molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005125 cytokine activity
IBA molecular_function
GO:0005125 cytokine activity
IEA molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IBA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IEA biological_process
GO:0007517 muscle organ development
TAS biological_process
GO:0008083 growth factor activity
IEA molecular_function
GO:0008083 growth factor activity
IEA molecular_function
GO:0008083 growth factor activity
TAS molecular_function
GO:0008201 heparin binding
IEA molecular_function
GO:0009408 response to heat
IEA biological_process
GO:0009629 response to gravity
IEA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IBA biological_process
GO:0014732 skeletal muscle atrophy
IEA biological_process
GO:0014741 negative regulation of mu
scle hypertrophy
IEA biological_process
GO:0014850 response to muscle activi
ty
IEA biological_process
GO:0022602 ovulation cycle process
IEA biological_process
GO:0033574 response to testosterone
IEA biological_process
GO:0033673 negative regulation of ki
nase activity
IEA biological_process
GO:0040007 growth
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042981 regulation of apoptotic p
rocess
IBA biological_process
GO:0043403 skeletal muscle tissue re
generation
IEA biological_process
GO:0043408 regulation of MAPK cascad
e
IBA biological_process
GO:0043627 response to estrogen
IEA biological_process
GO:0045471 response to ethanol
IEA biological_process
GO:0045662 negative regulation of my
oblast differentiation
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0046627 negative regulation of in
sulin receptor signaling
pathway
IEA biological_process
GO:0046716 muscle cell cellular home
ostasis
IDA biological_process
GO:0048468 cell development
IBA biological_process
GO:0048632 negative regulation of sk
eletal muscle tissue grow
th
IEA biological_process
GO:0048632 negative regulation of sk
eletal muscle tissue grow
th
IMP biological_process
GO:0051384 response to glucocorticoi
d
IEA biological_process
GO:0051602 response to electrical st
imulus
IEA biological_process
GO:0051898 negative regulation of pr
otein kinase B signaling
IDA biological_process
GO:0060395 SMAD protein signal trans
duction
IBA biological_process
GO:0071549 cellular response to dexa
methasone stimulus
IEA biological_process
GO:0098779 mitophagy in response to
mitochondrial depolarizat
ion
IGI biological_process
GO:0098792 xenophagy
IMP biological_process
GO:1902723 negative regulation of sk
eletal muscle satellite c
ell proliferation
ISS biological_process
GO:1902725 negative regulation of sa
tellite cell differentiat
ion
ISS biological_process
GO:2000818 negative regulation of my
oblast proliferation
ISS biological_process
GO:0002230 positive regulation of de
fense response to virus b
y host
IMP biological_process
GO:0005102 receptor binding
IPI molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005125 cytokine activity
IBA molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IBA cellular_component
GO:0007517 muscle organ development
TAS biological_process
GO:0008083 growth factor activity
TAS molecular_function
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IBA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042981 regulation of apoptotic p
rocess
IBA biological_process
GO:0043408 regulation of MAPK cascad
e
IBA biological_process
GO:0045662 negative regulation of my
oblast differentiation
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0046716 muscle cell cellular home
ostasis
IDA biological_process
GO:0048468 cell development
IBA biological_process
GO:0048632 negative regulation of sk
eletal muscle tissue grow
th
IMP biological_process
GO:0051898 negative regulation of pr
otein kinase B signaling
IDA biological_process
GO:0060395 SMAD protein signal trans
duction
IBA biological_process
GO:0098779 mitophagy in response to
mitochondrial depolarizat
ion
IGI biological_process
GO:0098792 xenophagy
IMP biological_process
GO:1902723 negative regulation of sk
eletal muscle satellite c
ell proliferation
ISS biological_process
GO:1902725 negative regulation of sa
tellite cell differentiat
ion
ISS biological_process
GO:2000818 negative regulation of my
oblast proliferation
ISS biological_process

Diseases

Associated diseases References
Endometriosis (Deep infiltrating, ovarian endometriosis) PMID: 28345488
Endometrial cancer INFBASE28345488
Ovarian endometriosis INFBASE28345488
Muscle hypertrophy OMIM601788

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28345488 Endometrio
sis (Deep
infiltrati
ng, ovaria
n endometr
iosis)


ALK5
ActRIIB
Show abstract