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MSTN (myostatin)

Identity

Other namesGDF8
MSLHP
HGNC (Hugo) MSTN
LocusID (NCBI) 2660
Atlas_Id 40703
Location 2q32.2  [Link to chromosome band 2q32]
Location_base_pair Starts at 190920426 and ends at 190927455 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MSTN   4223
Cards
Entrez_Gene (NCBI)MSTN  2660  myostatin
AliasesGDF8; MSLHP
GeneCards (Weizmann)MSTN
Ensembl hg19 (Hinxton)ENSG00000138379 [Gene_View]  chr2:190920426-190927455 [Contig_View]  MSTN [Vega]
Ensembl hg38 (Hinxton)ENSG00000138379 [Gene_View]  chr2:190920426-190927455 [Contig_View]  MSTN [Vega]
ICGC DataPortalENSG00000138379
TCGA cBioPortalMSTN
AceView (NCBI)MSTN
Genatlas (Paris)MSTN
WikiGenes2660
SOURCE (Princeton)MSTN
Genomic and cartography
GoldenPath hg19 (UCSC)MSTN  -     chr2:190920426-190927455 -  2q32.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MSTN  -     2q32.2   [Description]    (hg38-Dec_2013)
EnsemblMSTN - 2q32.2 [CytoView hg19]  MSTN - 2q32.2 [CytoView hg38]
Mapping of homologs : NCBIMSTN [Mapview hg19]  MSTN [Mapview hg38]
OMIM601788   614160   
Gene and transcription
Genbank (Entrez)AF019627 AF104922 AK291524 BC074757 BX093210
RefSeq transcript (Entrez)NM_005259
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_009800 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)MSTN
Cluster EST : UnigeneHs.41565 [ NCBI ]
CGAP (NCI)Hs.41565
Alternative Splicing GalleryENSG00000138379
Gene ExpressionMSTN [ NCBI-GEO ]   MSTN [ EBI - ARRAY_EXPRESS ]   MSTN [ SEEK ]   MSTN [ MEM ]
Gene Expression Viewer (FireBrowse)MSTN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2660
GTEX Portal (Tissue expression)MSTN
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14793 (Uniprot)
NextProtO14793  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14793
Splice isoforms : SwissVarO14793 (Swissvar)
PhosPhoSitePlusO14793
Domaine pattern : Prosite (Expaxy)TGF_BETA_1 (PS00250)    TGF_BETA_2 (PS51362)   
Domains : Interpro (EBI)Cystine-knot_cytokine    GDF_8    TGF-b_C    TGF-b_N    TGF-beta-rel    TGFb_CS   
Domain families : Pfam (Sanger)TGF_beta (PF00019)    TGFb_propeptide (PF00688)   
Domain families : Pfam (NCBI)pfam00019    pfam00688   
Domain families : Smart (EMBL)TGFB (SM00204)  
DMDM Disease mutations2660
Blocks (Seattle)MSTN
SuperfamilyO14793
Human Protein AtlasENSG00000138379
Peptide AtlasO14793
HPRD03474
IPIIPI00023751   
Protein Interaction databases
DIP (DOE-UCLA)O14793
IntAct (EBI)O14793
FunCoupENSG00000138379
BioGRIDMSTN
STRING (EMBL)MSTN
ZODIACMSTN
Ontologies - Pathways
QuickGOO14793
Ontology : AmiGOpositive regulation of defense response to virus by host  receptor binding  cytokine activity  transforming growth factor beta receptor binding  protein binding  extracellular space  cytoplasm  transforming growth factor beta receptor signaling pathway  muscle organ development  growth factor activity  heparin binding  response to heat  response to gravity  positive regulation of pathway-restricted SMAD protein phosphorylation  skeletal muscle atrophy  negative regulation of muscle hypertrophy  response to muscle activity  ovulation cycle process  response to testosterone  negative regulation of kinase activity  identical protein binding  regulation of apoptotic process  skeletal muscle tissue regeneration  regulation of MAPK cascade  response to estrogen  response to ethanol  negative regulation of myoblast differentiation  positive regulation of transcription, DNA-templated  negative regulation of insulin receptor signaling pathway  muscle cell cellular homeostasis  cell development  negative regulation of skeletal muscle tissue growth  response to electrical stimulus  negative regulation of protein kinase B signaling  SMAD protein signal transduction  cellular response to dexamethasone stimulus  mitophagy in response to mitochondrial depolarization  xenophagy  negative regulation of skeletal muscle satellite cell proliferation  negative regulation of satellite cell differentiation  negative regulation of myoblast proliferation  
Ontology : EGO-EBIpositive regulation of defense response to virus by host  receptor binding  cytokine activity  transforming growth factor beta receptor binding  protein binding  extracellular space  cytoplasm  transforming growth factor beta receptor signaling pathway  muscle organ development  growth factor activity  heparin binding  response to heat  response to gravity  positive regulation of pathway-restricted SMAD protein phosphorylation  skeletal muscle atrophy  negative regulation of muscle hypertrophy  response to muscle activity  ovulation cycle process  response to testosterone  negative regulation of kinase activity  identical protein binding  regulation of apoptotic process  skeletal muscle tissue regeneration  regulation of MAPK cascade  response to estrogen  response to ethanol  negative regulation of myoblast differentiation  positive regulation of transcription, DNA-templated  negative regulation of insulin receptor signaling pathway  muscle cell cellular homeostasis  cell development  negative regulation of skeletal muscle tissue growth  response to electrical stimulus  negative regulation of protein kinase B signaling  SMAD protein signal transduction  cellular response to dexamethasone stimulus  mitophagy in response to mitochondrial depolarization  xenophagy  negative regulation of skeletal muscle satellite cell proliferation  negative regulation of satellite cell differentiation  negative regulation of myoblast proliferation  
NDEx NetworkMSTN
Atlas of Cancer Signalling NetworkMSTN
Wikipedia pathwaysMSTN
Orthology - Evolution
OrthoDB2660
GeneTree (enSembl)ENSG00000138379
Phylogenetic Trees/Animal Genes : TreeFamMSTN
Homologs : HomoloGeneMSTN
Homology/Alignments : Family Browser (UCSC)MSTN
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMSTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MSTN
dbVarMSTN
ClinVarMSTN
1000_GenomesMSTN 
Exome Variant ServerMSTN
ExAC (Exome Aggregation Consortium)MSTN (select the gene name)
Genetic variants : HAPMAP2660
Genomic Variants (DGV)MSTN [DGVbeta]
Mutations
ICGC Data PortalMSTN 
TCGA Data PortalMSTN 
Broad Tumor PortalMSTN
OASIS PortalMSTN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMSTN 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MSTN
DgiDB (Drug Gene Interaction Database)MSTN
DoCM (Curated mutations)MSTN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MSTN (select a term)
intoGenMSTN
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:190920426-190927455  ENSG00000138379
CONAN: Copy Number AnalysisMSTN 
Mutations and Diseases : HGMDMSTN
OMIM601788    614160   
MedgenMSTN
Genetic Testing Registry MSTN
NextProtO14793 [Medical]
TSGene2660
GENETestsMSTN
Huge Navigator MSTN [HugePedia]
snp3D : Map Gene to Disease2660
BioCentury BCIQMSTN
ClinGenMSTN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2660
Chemical/Pharm GKB GenePA162396253
Clinical trialMSTN
Miscellaneous
canSAR (ICR)MSTN (select the gene name)
Probes
Litterature
PubMed126 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMSTN
EVEXMSTN
GoPubMedMSTN
iHOPMSTN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 19:03:17 CEST 2016

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