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MUSK Gene

protein-coding   GIFtS: 70
GCID: GC09P113431

Muscle, Skeletal, Receptor Tyrosine Kinase

  See MUSK-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)
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Aliases
Muscle, Skeletal, Receptor Tyrosine Kinase1 2     Muscle, Skeletal Receptor Tyrosine-Protein Kinase2
Muscle-Specific Kinase Receptor2 3     MuSK3
Muscle-Specific Tyrosine-Protein Kinase Receptor2 3     EC 2.7.108
EC 2.7.10.13 8     

External Ids:    HGNC: 75251   Entrez Gene: 45932   Ensembl: ENSG000000303047   OMIM: 6012965   UniProtKB: O151463   

Export aliases for MUSK gene to outside databases

Previous GC identifers: GC09P104229 GC09P105163 GC09P106888 GC09P108810 GC09P110510 GC09P112470 GC09P083032


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MUSK Gene:
This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of
the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been
associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been
described.(provided by RefSeq, Oct 2009)

GeneCards Summary for MUSK Gene:
MUSK (muscle, skeletal, receptor tyrosine kinase) is a protein-coding gene. Diseases associated with MUSK include musk-related congenital myasthenic syndrome, and progressive bulbar palsy. GO annotations related to this gene include transmembrane receptor protein tyrosine kinase activity and protein tyrosine kinase activity. An important paralog of this gene is ROR1.

UniProtKB/Swiss-Prot: MUSK_HUMAN, O15146
Function: Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the
neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN
by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex.
The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes
including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton
and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR
phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK.
DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR
clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which
promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and
of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May
also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and
memory formation (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MUSK gene promoter:
         C/EBPbeta   Nkx2-5   HNF-3beta   POU3F2   LCR-F1   Cdc5   CREB   Ik-2   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMUSK promoter sequence
   Search Chromatin IP Primers for MUSK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MUSK


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

Entrez Gene cytogenetic band: 9q31.3-q32   Ensembl cytogenetic band:  9q31.3   HGNC cytogenetic band: 9q31.3-q32

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P113431:  view genomic region     (about GC identifiers)

Start:
113,431,051 bp from pter      End:
113,563,859 bp from pter
Size:
132,809 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MUSK_HUMAN, O15146 (See protein sequence)
Recommended Name: Muscle, skeletal receptor tyrosine-protein kinase precursor  
Size: 869 amino acids; 97056 Da
Subunit: Monomer (By similarity). Homodimer (Probable). Interacts with LRP4; the heterodimer forms an AGRIN
receptor complex that binds AGRIN resulting in activation of MUSK (By similarity). Forms a heterotetramer
composed of 2 DOK7 and 2 MUSK molecules which facilitates MUSK trans-autophosphorylation on tyrosine residue and
activation. Interacts (via cytoplasmic part) with DOK7 (via IRS-type PTB domain); requires MUSK phosphorylation.
Interacts with DVL1 (via DEP domain); the interaction is direct and mediates the formation of a DVL1, MUSK and
PAK1 ternary complex involved in AChR clustering (By similarity). Interacts with PDZRN3; this interaction is
enhanced by agrin (By similarity). Interacts with FNTA; the interaction is direct and mediates AGRIN-induced
phosphorylation and activation of FNTA (By similarity). Interacts with CSNK2B; mediates regulation by CK2 (By
similarity). Interacts (via the cytoplasmic domain) with DNAJA3 (By similarity). Interacts with NSF; may regulate
MUSK endocytosis and activity (By similarity). Interacts with CAV3; may regulate MUSK signaling (By similarity).
Interacts with RNF31 (By similarity)
Sequence caution: Sequence=CAH69977.1; Type=Erroneous gene model prediction; Sequence=CAH69978.1; Type=Erroneous
gene model prediction; Sequence=CAI17349.1; Type=Erroneous gene model prediction; Sequence=CAI17350.1;
Type=Erroneous gene model prediction;
Secondary accessions: Q32MJ8 Q32MJ9 Q5VZW7 Q5VZW8
Alternative splicing: 3 isoforms:  O15146-1   O15146-2   O15146-3   

Explore the universe of human proteins at neXtProt for MUSK: NX_O15146

Explore proteomics data for MUSK at MOPED

Post-translational modifications: 

  • Ubiquitinated by PDZRN3. Ubiquitination promotes endocytosis and lysosomal degradation (By similarity)1
  • Phosphorylated. Phosphorylation is induced by AGRIN. Autophosphorylation at Tyr-554 is required for interaction
    with DOK7 which in turn stimulates the phosphorylation and the activation of MUSK1
  • Neddylated1
  • Glycosylation2 at Asn222, Asn338
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MUSK (O15146) (see all 21)
     GVVLWEI  VAVKMLK  PKITRPP  FVHRDLA 


    See MUSK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001159752.1  NP_001159753.1  NP_005583.1  

    ENSEMBL proteins: 
     ENSP00000189978   ENSP00000393608   ENSP00000363562   ENSP00000363561   ENSP00000363571  
     ENSP00000363563  
    Reactome Protein details: O15146

    MUSK Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant MUSK Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MUSK
    GenScript Custom Purified and Recombinant Proteins Services for MUSK
    Novus Biologicals MUSK Proteins
    Sino Biological Recombinant Protein for MUSK
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MUSK

     
    Search eBioscience for Proteins for MUSK 

     
    antibodies-online proteins for MUSK (4 products) 

     
    antibodies-online peptides for MUSK

    MUSK Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for MUSK
    OriGene Antibodies for MUSK
    OriGene Custom Antibody Services for MUSK
    Novus Biologicals MUSK Antibodies
    Abcam antibodies for MUSK
    Cloud-Clone Corp. Antibodies for MUSK
    ThermoFisher Antibodies for MUSK
    antibodies-online antibodies for MUSK (83 products) 

    MUSK Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MUSK
    R&D Systems Proteome Profiler Antibody Arrays for MUSK
    GenScript Custom Assay Services for MUSK
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MUSK
    Cloud-Clone Corp. CLIAs for MUSK
    Search eBioscience for ELISAs for MUSK 
    antibodies-online kits for MUSK (17 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: muscle, skeletal, receptor tyrosine kinase
    Musk family
    ROR family and other RTKs

    Selected InterPro protein domains (see all 11):
     IPR003598 Ig_sub2
     IPR017441 Protein_kinase_ATP_BS
     IPR013098 Ig_I-set
     IPR011009 Kinase-like_dom
     IPR020067 Frizzled_dom

    Graphical View of Domain Structure for InterPro Entry O15146

    ProtoNet protein and cluster: O15146

    1 Blocks protein domain: IPB008266 Tyrosine protein kinase

    UniProtKB/Swiss-Prot: MUSK_HUMAN, O15146
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family
    Similarity: Contains 1 FZ (frizzled) domain
    Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with MUSK           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MUSK_HUMAN, O15146
    Function: Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the
    neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN
    by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex.
    The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes
    including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton
    and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR
    phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK.
    DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR
    clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which
    promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and
    of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May
    also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and
    memory formation (By similarity)
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Positively regulated by CK2 (By similarity)

         Genatlas biochemistry entry for MUSK:
    skeletal muscle specific receptor tyrosine kinase,expressed in early myotomes and developing muscle and at the
    neuromuscular junction in mature muscle

         Enzyme Numbers (IUBMB): EC 2.7.10.11 2 EC 2.7.102

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity ISS--
    GO:0004714transmembrane receptor protein tyrosine kinase activity IEA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with MUSK           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for MUSK:
     Decreased viability  Decreased viability with TRAIL  Increased cell death HMECs cel  Upregulation of Wnt/beta-caten 

         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Musk):
     behavior/neurological  cellular  growth/size/body  homeostasis/metabolism  integument 
     mortality/aging  muscle  nervous system  respiratory system  skeleton 

    Find genes that share phenotypes with MUSK           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MUSK: Musktm1Gdy Musktm1.1Vwi

       genOway: Develop your customized and physiologically relevant rodent model for MUSK

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MUSK
    Predesigned siRNA for gene silencing in human, mouse, rat MUSK

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MUSK

    Clone
    Products:
         
    OriGene clones in human, mouse for MUSK (see all 21)
    OriGene ORF clones in mouse, rat for MUSK
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): MUSK (NM_001166280)
    Sino Biological Human cDNA Clone for MUSK
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MUSK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUSK

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MUSK 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUSK


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MUSK_HUMAN, O15146: Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein
    (Probable). Note=Localizes to the postsynaptic cell membrane of the neuromuscular junction (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton2
    cytosol2
    extracellular2
    nucleus2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ----
    GO:0005887integral component of plasma membrane ISS--
    GO:0030054cell junction IEA--
    GO:0031594neuromuscular junction ISS--
    GO:0043235receptor complex IDA--

    Find genes that share ontologies with MUSK           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MUSK About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    P2Y Receptor Signaling0.38
    2ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    3Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    4Actin Nucleation by ARP-WASP Complex
    Actin Nucleation and Branching0.66
    CDC42 Pathway0.41
    Actin Nucleation by ARP-WASP Complex0.66
    5Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71


    Find genes that share SuperPaths with MUSK           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MUSK (see all 29)
        MAPK Signaling
    Paxillin Interactions
    Endothelin-1 Signaling Pathway
    Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling

    2 Sino Biological Pathways for MUSK
        Canonical Wnt Pathway
    Non-Canonical Wnt Pathway

    1 Reactome Pathway for MUSK
        ECM proteoglycans


        Pathway & Disease-focused RT2 Profiler PCR Array including MUSK: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MUSK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for MUSK (O151461, 2, 3 ENSP000003635714) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGRNO004683, ENSP000003686784I2D: score=1 STRING: ENSP00000368678
    COLQQ9Y2153, ENSP000003732984I2D: score=1 STRING: ENSP00000373298
    DOK7Q18PE13, ENSP000003444324I2D: score=1 STRING: ENSP00000344432
    PDZRN3Q9UPQ73, ENSP000002636664I2D: score=1 STRING: ENSP00000263666
    NEDD8Q158433, ENSP000002504954I2D: score=1 STRING: ENSP00000250495
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation ISS--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006468protein phosphorylation ----
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway TAS7546737
    GO:0007275multicellular organismal development IEA--

    Find genes that share ontologies with MUSK           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MUSK

    2 HMDB Compounds for MUSK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    Selected Novoseek inferred chemical compound relationships for MUSK gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetylcholine 84.5 87 10051737 (2), 16453324 (2), 9238066 (2), 19664639 (2) (see all 59)
    tyrosine 74.6 200 10781064 (4), 12399462 (4), 17452444 (3), 10712627 (3) (see all 99)
    edrophonium 73.8 6 19999149 (3), 20127579 (1)
    phosphotyrosine 35.6 2 10781064 (1), 18165682 (1)
    rituximab 23.9 4 16323216 (3), 17468964 (1)
    ryanodine 12.5 4 15834033 (1), 17307394 (1), 20030211 (1)
    calcium 3.25 6 14622909 (2), 10440735 (1), 17915563 (1), 11748634 (1)
    lipid 2.79 3 16672658 (2), 16932745 (1)
    potassium 1.9 1 17915563 (1)
    steroid 0 1 16672291 (1)



    Find genes that share compounds with MUSK           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MUSK gene (3 alternative transcripts): 
    NM_001166280.1  NM_001166281.1  NM_005592.3  

    Unigene Cluster for MUSK:

    Muscle, skeletal, receptor tyrosine kinase
    Hs.521653  [show with all ESTs]
    Unigene Representative Sequence: NM_005592
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000189978 ENST00000416899 ENST00000374439 ENST00000374438 ENST00000374448(uc022blt.1 uc004bez.2 uc022blu.1 uc022blv.1)
    ENST00000374440
    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): MUSK (NM_001166280)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUSK
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MUSK
      QuantiTect SYBR Green Assays in human, mouse, rat MUSK
      QuantiFast Probe-based Assays in human, mouse, rat MUSK

    Additional mRNA sequence: 

    AF006464.1 BC109098.1 BC109099.1 Z25436.1 

    7 DOTS entries:

    DT.91750862  DT.121208457  DT.86849559  DT.121208462  DT.40310791  DT.75101373  DT.40116269 

    1 AceView cDNA sequence:

    BG209775 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MUSK    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15
    SP1:                                -                                                     -         
    SP2:                                                  -           -                       -         
    SP3:                                -                 -           -                       -         
    SP4:                                                              -     -                           


    ECgene alternative splicing isoforms for MUSK

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    MUSK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
    MUSK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MUSK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521653
        Pathway & Disease-focused RT2 Profiler PCR Array including MUSK: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for MUSK gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Musk1 , 5 muscle, skeletal, receptor tyrosine kinase1, 5 87.75(n)1
    92.86(a)1
      4 (31.87 cM)5
    181981  NM_001037127.21  NP_001032204.21 
     582859625 
    chicken
    (Gallus gallus)
    Aves MUSK1 muscle, skeletal, receptor tyrosine kinase 74.94(n)
    78.09(a)
      373897  NM_204108.1  NP_989439.1 
    lizard
    (Anolis carolinensis)
    Reptilia MUSK6
    muscle, skeletal, receptor tyrosine kinase
    70(a)
    1 ↔ 1
    GL343463.1(583408-651541)
    African clawed frog
    (Xenopus laevis)
    Amphibia musk-A2 muscle, skeletal, receptor tyrosine kinase 77.54(n)    AJ222795.1 
    zebrafish
    (Danio rerio)
    Actinopterygii musk1 muscle, skeletal, receptor tyrosine kinase 61.43(n)
    61.94(a)
      334526  NM_001004503.1  NP_001004503.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nrk1 , 3 protein amino acid phosphorylation
    protein tyrosine more3
    Neurospecific receptor kinase1
    59(a)3
    56.35(n)1
    54.29(a)1
      49F43
    364451  NM_057907.31  NP_477255.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MUSK gene
    ROR12  INSR2  ROS12  NTRK22  LTK2  IGF1R2  DDR12  NTRK32  
    INSRR2  ROR22  DDR22  ALK2  NTRK12  
    Selected SIMAP similar genes for MUSK using alignment to 3 protein entries:     MUSK_HUMAN (see all proteins) (see all similar genes):
    CNTN2    CNTN5    EPHA2    HMCN1    PTK7    CDON
    CNTN6    NGL1    PXDNL    ROR2    MDGA2    CNTN4
    NEO1    PTPRF    SDK2    IGFN1    LAR    LRFN5

    Find genes that share paralogs with MUSK           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MUSK (see all 2889)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0666044
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)4--see VAR_0666042 M I mis40--------
    VAR_0417584
    A lung neuroendocrine carcinoma sample4--see VAR_0417582 N S mis40--------
    VAR_0666054
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)4--see VAR_0666052 A V mis40--------
    VAR_0230464
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)4--see VAR_0230462 V M mis40--------
    rs1994760831,2
    Cpathogenic1113563026(+) ATGGCA/GTGGTC 6 M V mis10--------
    rs1432243371,2
    C--113429109(+) AAACTA/GGGTAT 3 -- us2k10--------
    rs96960531,2
    C,F,H--113429129(+) CCATCT/GAAAAA 3 -- us2k13Minor allele frequency- G:0.40WA NA EA 358
    rs44513801,2
    C--113429136(+) aaaaaA/Tatgag 3 -- us2k11Minor allele frequency- T:0.00NA 2
    rs46299461,2
    C--113429138(+) aaaaaT/Agagct 3 -- us2k11Minor allele frequency- A:0.00NA 2
    rs2009847981,2
    C--113429138(+) AAAAT-/AAGAGCT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for MUSK (113431051 - 113563859 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MUSK (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2738928CNV Deletion23290073
    esv2665360CNV Deletion23128226
    nsv436600CNV Deletion17901297
    esv2677020CNV Deletion23128226
    esv2298654CNV Deletion18987734
    esv2738927CNV Deletion23290073
    esv1003568CNV Deletion20482838
    esv2614598CNV Deletion19546169
    esv271869CNV Insertion20981092
    esv272528CNV Insertion20981092

    Human Gene Mutation Database (HGMD): MUSK
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MUSK
    DNA2.0 Custom Variant and Variant Library Synthesis for MUSK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601296   
    OMIM disorders: 608931  
    UniProtKB/Swiss-Prot: MUSK_HUMAN, O15146
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
    [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited
    disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic
    proteins. Note=The disease is caused by mutations affecting the gene represented in this entry. MUSK mutations
    lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular
    junction

  • 9 diseases for MUSK:    
    About MalaCards
    musk-related congenital myasthenic syndrome    progressive bulbar palsy    myasthenia gravis    lambert-eaton myasthenic syndrome
    myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency    congenital myasthenic syndrome associated with acetylcholine receptor deficiency    endplate acetylcholinesterase deficiency    congenital myasthenic syndrome
    myasthenic syndrome, congenital, with pre- and postsynaptic defects

    6 diseases from the University of Copenhagen DISEASES database for MUSK:
    Myasthenia gravis     Lambert-Eaton myasthenic syndrome     Leukemia     Congenital myasthenic syndrome
    Thymoma     Progressive bulbar palsy

    Find genes that share disorders with MUSK           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MUSK gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myasthenia gravis 92.2 104 16155434 (4), 17081697 (3), 17221882 (3), 17056627 (3) (see all 64)
    myasthenic syndromes congenital 90.5 10 20371544 (2), 18718936 (1), 16114265 (1), 16237673 (1) (see all 6)
    myasthenia gravis generalized 89.8 14 18096854 (1), 15956173 (1), 15989843 (1), 15732104 (1) (see all 8)
    lambert-eaton myasthenic syndrome 62.5 1 17915563 (1)
    neuromyotonia 57.9 1 17915563 (1)
    autoimmune diseases 47.1 8 17266132 (1), 11754179 (1), 19260048 (1), 19332416 (1) (see all 5)
    neuromuscular diseases 44.2 3 18848351 (1)
    atrophy 27.9 6 16213598 (1), 17510484 (1), 16637918 (1), 17157556 (1) (see all 6)
    respiratory failure 27.9 2 16323216 (1)
    muscular dystrophies 18.9 2 18957220 (1), 7546737 (1)

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

    Export disorders for MUSK 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)
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    PubMed articles for MUSK gene, integrated from 10 sources (see all 240):
    (articles sorted by number of sources associating them with MUSK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury. (PubMed id 7546737)1, 2, 3, 9 Valenzuela D.M.... Yancopoulos G.D. (Neuron 1995)
    2. Mutations in MUSK causing congenital myasthenic syndrome impair MuSK- Dok-7 interaction. (PubMed id 20371544)1, 2, 9 Maselli R.A.... Wollmann R.L. (Hum. Mol. Genet. 2010)
    3. MUSK, a new target for mutations causing congenital myasthenic syndrome. (PubMed id 15496425)1, 2, 9 Chevessier F.... Hantai D. (Hum. Mol. Genet. 2004)
    4. Development and validation of a method for profiling post-translational modification activities using protein microarrays. (PubMed id 20596523)1, 2 Del RincA^n S.V....Spruck C. (PLoS ONE 2010)
    5. Expression of MuSK in in vitro-innervated human muscle. (PubMed id 17192614)1, 9 Gajsek N....Grubic Z. (J. Mol. Neurosci. 2006)
    6. Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7. (PubMed id 18165682)1, 9 Hamuro J....Yamanashi Y. (J. Biol. Chem. 2008)
    7. MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction. (PubMed id 15159418)1, 9 Cartaud A....Legay C. (J. Cell Biol. 2004)
    8. The effect of plasma from muscle-specific tyrosine kinase myasthenia patients on regenerating endplates. (PubMed id 19745065)1, 9 ter Beek W.P....Molenaar P.C. (Am. J. Pathol. 2009)
    9. Identification of agrinSN isoform and muscle-specific receptor tyrosine kinase (MuSK) in sperm. (PubMed id 16487930)1, 9 Kumar P.... Meizel S. (Biochem. Biophys. Res. Commun. 2006)
    10. Activation of muscle-specific receptor tyrosine kinase and binding to dystroglycan are regulated by alternative mRNA splicing of agrin. (PubMed id 17012237)1, 9 Scotton P....Ruegg M.A. (J. Biol. Chem. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4593 HGNC: 7525 AceView: MUSK.1 Ensembl:ENSG00000030304 euGenes: HUgn4593
    ECgene: MUSK H-InvDB: MUSK

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MUSK Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MUSK Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MUSK[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/MuSK_protein

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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