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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MSTN Gene

protein-coding   GIFtS: 61
GCID: GC02M190920

Myostatin

(Previous name: growth differentiation factor 8)
(Previous symbol: GDF8)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Myostatin3     GDF-82 3
myostatin1 2     MSLHP2
GDF81 2 3 5     Growth/Differentiation Factor 82
Growth Differentiation Factor 81 2     

External Ids:    HGNC: 42231   Entrez Gene: 26602   Ensembl: ENSG000001383797   OMIM: 6017885   UniProtKB: O147933   

Export aliases for MSTN gene to outside databases

Previous GC identifers: GC02M190629 GC02M182780


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MSTN Gene:
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta
superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved
to produce a mature protein containing seven conserved cysteine residues. The members of this family are
regulators of cell growth and differentiation in both embryonic and adult tissues. This gene is thought to encode
a secreted protein which negatively regulates skeletal muscle growth. (provided by RefSeq, Jul 2008)

GeneCards Summary for MSTN Gene: 
MSTN (myostatin) is a protein-coding gene. Diseases associated with MSTN include skeletal muscle cancer, and myostatin-related muscle hypertrophy. GO annotations related to this gene include cytokine activity and receptor binding. An important paralog of this gene is GDF11.

UniProtKB/Swiss-Prot: GDF8_HUMAN, O14793
Function: Acts specifically as a negative regulator of skeletal muscle growth

Gene Wiki entry for MSTN (Myostatin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MSTN gene promoter:
         LHX3b/Lhx3b   AP-4   Ik-3   Nkx6-1   FOXO1a   LHX3a/Lhx3a   TGIF   NF-kappaB1   MRF-2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMSTN promoter sequence
   Search SABiosciences Chromatin IP Primers for MSTN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MSTN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q32.2   Ensembl cytogenetic band:  2q32.2   HGNC cytogenetic band: 2q32.1

MSTN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MSTN gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M190920:  view genomic region     (about GC identifiers)

Start:
190,920,423 bp from pter      End:
190,927,455 bp from pter
Size:
7,033 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GDF8_HUMAN, O14793 (See protein sequence)
Recommended Name: Growth/differentiation factor 8 precursor  
Size: 375 amino acids; 42750 Da
Subunit: Homodimer; disulfide-linked (By similarity). Interacts with WFIKKN2, leading to inhibit its activity.
Interacts with FST3
Subcellular location: Secreted
Secondary accessions: A1C2J7 A1C2K0 Q6B0H2

Explore the universe of human proteins at neXtProt for MSTN: NX_O14793

Explore proteomics data for MSTN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14793

  • MSTN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MSTN Protein Expression
    REFSEQ proteins: NP_005250.1  
    ENSEMBL proteins: 
     ENSP00000260950  

    Human Recombinant Protein Products for MSTN: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for MSTN (GDF-8/Myostatin)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MSTN
    OriGene Protein Over-expression Lysate for MSTN
    OriGene MassSpec for MSTN 
    OriGene Custom Protein Services for MSTN
    GenScript Custom Purified and Recombinant Proteins Services for MSTN
    Novus Biologicals MSTN Proteins
    Novus Biologicals MSTN Lysate
    Sino Biological Recombinant Protein for MSTN
    Sino Biological Cell Lysate for MSTN 
    ProSpec Recombinant Protein for MSTN
    Cloud-Clone Corp. Proteins for MSTN 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm IEA--

    MSTN for ontologies           About GeneDecksing



    MSTN Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of MSTN
    R&D Systems Antibodies for MSTN (GDF-8/Myostatin)
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    GenScript Custom Superior Antibodies Services for MSTN
    Novus Biologicals MSTN Antibodies
    Abcam antibodies for MSTN
    Cloud-Clone Corp. Antibodies for MSTN 
    ThermoFisher Antibodies for MSTN
    LSBio Antibodies in human, mouse, rat for MSTN 

    Assay Products for MSTN: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MSTN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MSTN 
    Cloud-Clone Corp. CLIAs for MSTN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR001111 TGF-b_N
     IPR015615 TGF-beta-rel
     IPR015616 GDF_8
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS

    Graphical View of Domain Structure for InterPro Entry O14793

    ProtoNet protein and cluster: O14793

    2 Blocks protein domains:
    IPB001111 Transforming growth factor beta (TGFb)
    IPB001839 Transforming growth factor beta (TGFb)


    UniProtKB/Swiss-Prot: GDF8_HUMAN, O14793
    Similarity: Belongs to the TGF-beta family


    MSTN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GDF8_HUMAN, O14793
    Function: Acts specifically as a negative regulator of skeletal muscle growth

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102contributes to receptor binding IPI14517293
    GO:0005125cytokine activity IEA--
    GO:0005515protein binding IPI--
    GO:0008083growth factor activity IEA--
    GO:0008201heparin binding IEA--
         
    MSTN for ontologies           About GeneDecksing


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Mstn):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  growth/size  homeostasis/metabolism  immune system  limbs/digits/tail 
     liver/biliary system  mortality/aging  muscle  renal/urinary system  skeleton 

    MSTN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MSTN: Mstntm1.1Mgs Mstntm1Sjl Mstntm1.1Swel

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MSTN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MSTN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MSTN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MSTN 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MSTN
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate MSTN (see all 11):
    hsa-miR-3163 hsa-miR-520d-5p hsa-miR-3688-3p hsa-miR-29a hsa-miR-29c hsa-miR-508-3p hsa-miR-518a-5p hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidMSTN 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MSTN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MSTN

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of MSTN

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MSTN (see all 7)
    OriGene ORF clones in mouse, rat for MSTN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MSTN (NM_005259)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSTN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSTN
    Sirion Biotech Customized lentivirus for stable overexpression of MSTN 
                         Customized lentivirus expression plasmids for stable overexpression of MSTN 

    Cell Line
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    Search LifeMap BioReagents cell lines for MSTN
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSTN


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MSTN About                                                                                                See pathways by source

    SuperPathContained pathways About
    1TGF-beta Signaling Pathway
    TGF-beta Signaling Pathway


    1 Sino Biological Pathway for MSTN 
        TGF-beta Signaling Pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MSTN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/11 Interacting proteins for MSTN (O147932, 3 ENSP000002609504) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACVR2BQ137052, 3, ENSP000003403614MINT-8432603 MINT-8432640 MINT-8432783 MINT-8432617 I2D: score=2 STRING: ENSP00000340361
    WFIKKN1Q96NZ82MINT-8432687 MINT-8432804 MINT-8432657 MINT-8432707
    FSTL3O956333, ENSP000001661394I2D: score=2 STRING: ENSP00000166139
    SGTAO437653, ENSP000002215664I2D: score=2 STRING: ENSP00000221566
    TCAPO152733, ENSP000003126244I2D: score=1 STRING: ENSP00000312624
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007179transforming growth factor beta receptor signaling pathway IEA--
    GO:0007517muscle organ development TAS9843994
    GO:0009408response to heat IEA--
    GO:0009629response to gravity IEA--
    GO:0014732skeletal muscle atrophy IEA--

    MSTN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MSTN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MSTN (GDF8)

    8 Novoseek inferred chemical compound relationships for MSTN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    testosterone 24.5 28 18841527 (5), 11701429 (3), 17095559 (3), 19356623 (3) (see all 11)
    rapamycin 16.4 3 19533653 (1), 19071005 (1), 19357233 (1)
    glycerol 3-phosphate 13.2 5 11237745 (1), 16849634 (1)
    oxygen 2.06 2 18500383 (1), 15355854 (1)
    ribonucleic acid 0 1 16638502 (1)
    glucose 0 18 17711997 (5), 19295913 (2), 16464946 (2), 20103742 (1) (see all 6)
    glyceraldehyde 3-phosphate 0 1 12676749 (1)
    dexamethasone 0 1 11701425 (1)

    Search CenterWatch for drugs/clinical trials and news about MSTN / GDF8

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MSTN gene: 
    NM_005259.2  

    Unigene Cluster for MSTN:

    Myostatin
    Hs.41565  [show with all ESTs]
    Unigene Representative Sequence: AF104922
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000260950(uc002urp.3)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MSTN
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate MSTN (see all 11):
    hsa-miR-3163 hsa-miR-520d-5p hsa-miR-3688-3p hsa-miR-29a hsa-miR-29c hsa-miR-508-3p hsa-miR-518a-5p hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidMSTN 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MSTN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MSTN
    Clone
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    OriGene clones in human, mouse for MSTN (see all 7)
    OriGene ORF clones in mouse, rat for MSTN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MSTN (NM_005259)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSTN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSTN
    Sirion Biotech Customized lentivirus for stable overexpression of MSTN 
                         Customized lentivirus expression plasmids for stable overexpression of MSTN 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MSTN
    OriGene qSTAR qPCR primer pairs in human, mouse for MSTN
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MSTN
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MSTN
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MSTN

    Additional mRNA sequence: 

    AF019627.1 AF104922.1 AK291524.1 BC074757.2 

    1 DOTS entry:

    DT.211022 

    13 AceView cDNA sequences:

    AF019627 N80248 AA476419 BC074757 BX093210 AA476520 NM_005259 AA446796 
    AF104922 BE296886 AA432111 W07375 W24782 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MSTN expression in normal human tissues (normalized intensities)      MSTN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGGCTGTAT
    MSTN Expression
    About this image


    MSTN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 59 entries
             Mononuclear Myocytes Forelimb Dorsal Muscles
             vastus lateralis   
     
     Somite (Muscoskeletal System)    fully expand to see all 32 entries
             Mononuclear Myocytes Sacral Primary Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 12 entries
             Mononuclear Myocytes Hindlimb Dorsal Muscle
     
     Uterus
             uterus, post-menopause ; cells in endometrial stroma   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Hippocampus

    See MSTN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MSTN

    SOURCE GeneReport for Unigene cluster: Hs.41565
        SABiosciences Expression via Pathway-Focused PCR Arrays including MSTN: 
              Growth Factors in human mouse rat
              Cytokines & Chemokines in human mouse rat
              Common Cytokines in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MSTN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSTN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MSTN gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mstn1 , 5 myostatin1, 5 91.82(n)1
    96.27(a)1
      1 (26.99 cM)5
    177001  NM_010834.21  NP_034964.11 
     530616635 
    chicken
    (Gallus gallus)
    Aves MSTN1 myostatin 84.98(n)
    92(a)
      373964  NM_001001461.1  NP_001001461.1 
    lizard
    (Anolis carolinensis)
    Reptilia MSTN6
    Uncharacterized protein
    89(a)
    1 ↔ 1
    2(134860432-134873766)
    zebrafish
    (Danio rerio)
    Actinopterygii mstnb1 myostatin b 65.94(n)
    69.67(a)
      798441  NM_131019.3  NP_571094.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta myoglianin1 CG1838-PA 44.89(n)
    35.91(a)
      43811  NM_166788.1  NP_726606.1 


    ENSEMBL Gene Tree for MSTN (if available)
    TreeFam Gene Tree for MSTN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MSTN gene
    GDF112  INHBE2  TGFB22  INHBB2  TGFB32  INHBC2  INHBA2  TGFB12  
    2 SIMAP similar genes for MSTN using alignment to 1 protein entry:     GDF8_HUMAN:
    GDF8    GDF11

    MSTN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/214 SNPs in MSTN are shown (see all 214)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1820233271,2
    --190306345(+) AAAAAC/TCAAAC 1 -- ds50010--------
    rs1850475671,2
    --190306596(+) AAAATA/TAAAAA 1 -- ds50010--------
    rs1402304171,2
    --190306639(+) CTTTCA/GTATGT 1 -- ds50010--------
    rs1899395361,2
    --190306708(+) GCAGAA/CCTAAA 1 -- ds50010--------
    rs1813964711,2
    --190306761(+) AATAAA/TGTGAA 1 -- ds50010--------
    rs37917811,2
    C,F,H--190306768(+) TGAAAA/GTCAGA 1 -- ds500111Minor allele frequency- G:0.11EA NS NA 1522
    rs121051651,2
    F,H--190306852(+) ATACTG/CTTTCT 1 -- ut316Minor allele frequency- C:0.07NS EA WA NA 644
    rs1441677261,2
    C--190306916(+) TAACAA/GAATCC 1 -- ut310--------
    rs37917821,2
    C--190307034(+) GATAAT/CAGAGT 1 -- ut314Minor allele frequency- C:0.21EA NA WA 1548
    rs1864812381,2
    --190307148(+) TTATAC/TAGCCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MSTN (190920423 - 190927455 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MSTN: --

    Human Gene Mutation Database (HGMD): MSTN

    Locus Specific Mutation Databases (LSDB): MSTN
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MSTN
    DNA2.0 Custom Variant and Variant Library Synthesis for MSTN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601788    OMIM disorders: --

    UniProtKB/Swiss-Prot: GDF8_HUMAN, O14793
  • Muscle hypertrophy (MSLHP) [MIM:614160]: A condition characterized by increased muscle bulk and strength.
    Affected individuals are exceptionally strong. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/31 diseases for MSTN (see all 31):    About MalaCards
    skeletal muscle cancer    myostatin-related muscle hypertrophy    inclusion body myositis    peyronie's disease
    peyronies disease    mitochondrial encephalomyopathy    myotonia    myositis
    alcoholic cardiomyopathy    duchenne muscular dystrophy    encephalomyopathy    neuromuscular disease
    gestational diabetes    metabolic disorders    rhabdomyosarcoma    muscular dystrophy
    insulin resistance    myopathy    muscular atrophy    obesity

    2 diseases from the University of Copenhagen DISEASES database for MSTN:
    Myopathy     Neuropathy

    MSTN for disorders           About GeneDecksing

    10/23 Novoseek inferred disease relationships for MSTN gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lgmd1c 78.3 7 19108573 (3), 17039257 (2), 17432227 (1)
    muscular dystrophies 74.4 21 19108572 (3), 16231730 (2), 16638502 (2), 17432227 (2) (see all 15)
    hypertrophy 73.6 47 19383783 (4), 16883577 (2), 12717734 (1), 15215484 (1) (see all 35)
    atrophy disuse 67.1 2 19656243 (1), 17376604 (1)
    atrophy 66.3 50 18335407 (4), 16533345 (3), 17039257 (3), 15726494 (2) (see all 26)
    myopathy 60.7 9 19383783 (2), 16436040 (2), 18248537 (1), 16793037 (1) (see all 7)
    muscular dystrophy duchenne 60.6 5 17432227 (1), 20161803 (1), 18288893 (1), 15221330 (1) (see all 5)
    wasting syndrome 49.6 2 17432227 (1), 16246158 (1)
    neuromuscular diseases 46.6 2 19783146 (1), 17261282 (1)
    mitochondrial encephalomyopathies 28.5 3 16638502 (2), 16996410 (1)

    GeneTests: MSTN
    GeneReviews: MSTN
    Genetic Association Database (GAD): MSTN
    Human Genome Epidemiology (HuGE) Navigator: MSTN (17 documents)

    Export disorders for MSTN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MSTN gene, integrated from 9 sources (see all 330):
    (articles sorted by number of sources associating them with MSTN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human adaptive evolution at myostatin (GDF8), a regulator of muscle growth. (PubMed id 17186467)1, 2, 9 Saunders M.A....Nachman M.W. (2006)
    2. Organization of the human myostatin gene and expression in healthy men and HIV-infected men with muscle wasting. (PubMed id 9843994)1, 2, 9 Gonzalez-Cadavid N.F.... Bhasin S. (1998)
    3. Regulation of myostatin in vivo by growth and differentiation factor- associated serum protein-1: a novel protein with protease inhibitor and follistatin domains. (PubMed id 12595574)1, 2, 9 Hill J.J.... Wolfman N.M. (2003)
    4. Frequent sequence variation in the human myostatin (GDF8) gene as a marker for analysis of muscle-related phenotypes. (PubMed id 10610713)1, 3, 9 Ferrell R.E....Hurley B.F. (1999)
    5. Myostatin and Follistatin Polymorphisms Interact with Muscle Phenotypes and Ethnicity. (PubMed id 19346981)1, 4, 9 Kostek M.A....Pescatello L.S. (2009)
    6. Does the polygenic profile determine the potential for becoming a world-class athlete? Insights from the sport of rowing. (PubMed id 19422651)1, 4, 9 Santiago C....Lucia A. (2009)
    7. Myostatin mutation associated with gross muscle hypertrophy in a child. (PubMed id 15215484)1, 2, 9 Schuelke M....Lee S.J. (2004)
    8. Can we identify a power-oriented polygenic profile? (PubMed id 20044471)1, 4 Ruiz J.R....Lucia A. (2010)
    9. Polymorphisms in the IGF1 signalling pathway including the myostatin gene are associated with left ventricular mass in male athletes. (PubMed id 19136503)1, 4 Karlowatz R.J....Zang K.D. (2009)
    10. Is there an optimum endurance polygenic profile? (PubMed id 19237423)1, 4 Ruiz J.R....Lucia A. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2660 HGNC: 4223 AceView: GDF8 Ensembl:ENSG00000138379 euGenes: HUgn2660
    ECgene: MSTN H-InvDB: MSTN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MSTN Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MSTN
    Wikipedia http://en.wikipedia.org/wiki/Myostatin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MSTN gene:
    Search GeneIP for patents involving MSTN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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