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MUSK Gene(Protein Coding)

Muscle Associated Receptor Tyrosine Kinase

GCID:
GC09P110668
GIFtS:
52
This gene is investigated by the UDN
UDN Logo

Aliases for MUSK Gene

Aliases for MUSK Gene

  • Muscle Associated Receptor Tyrosine Kinase 2 3 5
  • Muscle-Specific Tyrosine-Protein Kinase Receptor 3 4
  • Muscle, Skeletal, Receptor Tyrosine Kinase 2 3
  • Muscle-Specific Kinase Receptor 3 4
  • Muscle, Skeletal Receptor Tyrosine-Protein Kinase 3
  • EC 2.7.10.1 4
  • CMS9 3
  • FADS 3
  • MuSK 4

External Ids for MUSK Gene

Previous GeneCards Identifiers for MUSK Gene

  • GC09P104229
  • GC09P105163
  • GC09P106888
  • GC09P108810
  • GC09P110510
  • GC09P112470
  • GC09P113431
  • GC09P083032

Summaries for MUSK Gene

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 Associated Receptor Tyrosine Kinase) is a Protein Coding gene. Diseases associated with MUSK include Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency and Fetal Akinesia Deformation Sequence. Among its related pathways are ERK Signaling and Akt Signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is NTRK2.

UniProtKB/Swiss-Prot for MUSK Gene

  • 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 (PubMed:25537362). 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).

Additional gene information for MUSK Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUSK Gene

Genomics for MUSK Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MUSK Gene

Promoters and enhancers for MUSK Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH09J110668 Promoter/Enhancer 0.9 EPDnew ENCODE 656.6 +0.8 768 2.4 GATA3 SCRT2 MUSK RPS21P5
GH09J110578 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 5.7 -88.1 -88112 4.5 INSM2 SIN3A ZNF335 ZNF366 RCOR1 ZBTB11 CEBPB ZNF398 REST KLF16 GC09P110579 SVEP1 MUSK ENSG00000232896
GH09J110742 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5.6 +76.0 75980 4.9 INSM2 FEZF1 RAD21 ZNF335 ZNF366 SCRT2 RCOR1 FOS DEK SMARCC1 MUSK RPS21P5 GC09P110867
GH09J110935 Enhancer 0.7 ENCODE dbSUPER 10.1 +268.3 268304 2.7 HDGF DPF2 CREM SPI1 RNU6-432P LPAR1 MUSK ENSG00000207401
GH09J110797 Enhancer 0.9 FANTOM5 ENCODE 7.7 +130.9 130903 4.4 FOXA2 SIX5 REST FOXA1 SP1 GATA3 JUND ATF3 ZFP36 ZBTB33 MUSK GC09P110867 RPS21P5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MUSK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MUSK gene promoter:
  • CREB
  • deltaCREB
  • C/EBPbeta
  • Nkx2-5
  • Ik-2
  • Cdc5
  • LCR-F1
  • POU3F2
  • HNF-3beta

Genomic Locations for MUSK Gene

Genomic Locations for MUSK Gene
chr9:110,668,545-110,806,542
(GRCh38/hg38)
Size:
137,998 bases
Orientation:
Plus strand
chr9:113,431,051-113,563,859
(GRCh37/hg19)
Size:
132,809 bases
Orientation:
Plus strand

Genomic View for MUSK Gene

Genes around MUSK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUSK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUSK Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MUSK Gene

Proteins for MUSK Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MUSK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15146-MUSK_HUMAN
    Recommended name:
    Muscle, skeletal receptor tyrosine-protein kinase
    Protein Accession:
    O15146
    Secondary Accessions:
    • Q32MJ8
    • Q32MJ9
    • Q5VZW7
    • Q5VZW8

    Protein attributes for MUSK Gene

    Size:
    869 amino acids
    Molecular mass:
    97056 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=CAH69977.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH69978.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI17349.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI17350.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for MUSK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MUSK Gene

Protein Expression for MUSK Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MUSK Gene

  • Ubiquitinated by PDZRN3. Ubiquitination promotes endocytosis and lysosomal degradation (By similarity).
  • Phosphorylated. Phosphorylation is induced by AGRIN in a LRP4-dependent manner (By similarity). Autophosphorylated (PubMed:25029443). Autophosphorylation at Tyr-554 is required for interaction with DOK7 which in turn stimulates the phosphorylation and the activation of MUSK (By similarity).
  • Neddylated.
  • Glycosylation at Asn338 and isoforms=2, 3222
  • Modification sites at PhosphoSitePlus

Other Protein References for MUSK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MUSK Gene

Domains & Families for MUSK Gene

Gene Families for MUSK Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MUSK Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MUSK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15146

UniProtKB/Swiss-Prot:

MUSK_HUMAN :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family.
genes like me logo Genes that share domains with MUSK: view

Function for MUSK Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MUSK Gene

UniProtKB/Swiss-Prot 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 (PubMed:25537362). 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).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Positively regulated by CK2.
GENATLAS Biochemistry:
skeletal muscle specific receptor tyrosine kinase,expressed in early myotomes and developing muscle and at the neuromuscular junction in mature muscle

Enzyme Numbers (IUBMB) for MUSK Gene

Phenotypes From GWAS Catalog for MUSK Gene

Gene Ontology (GO) - Molecular Function for MUSK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004709 MAP kinase kinase kinase activity IBA --
GO:0004713 protein tyrosine kinase activity ISS,IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA --
GO:0004888 transmembrane signaling receptor activity IBA --
genes like me logo Genes that share ontologies with MUSK: view
genes like me logo Genes that share phenotypes with MUSK: view

Human Phenotype Ontology for MUSK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MUSK Gene

MGI Knock Outs for MUSK:

Animal Model Products

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for MUSK Gene

Localization for MUSK Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUSK Gene

Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein. Note=Colocalizes with acetylcholine receptors (AChR) to the postsynaptic cell membrane of the neuromuscular junction. {ECO:0000269 PubMed:23326516}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUSK gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MUSK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MUSK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MUSK Gene

Pathways & Interactions for MUSK Gene

genes like me logo Genes that share pathways with MUSK: view

SIGNOR curated interactions for MUSK Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MUSK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation ISS --
GO:0006468 protein phosphorylation IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS 7546737
GO:0007275 multicellular organism development IEA --
GO:0007528 neuromuscular junction development ISS --
genes like me logo Genes that share ontologies with MUSK: view

Drugs & Compounds for MUSK Gene

Products:

  1. Drug

(11) Drugs for MUSK Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(4) Additional Compounds for MUSK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with MUSK: view

Transcripts for MUSK Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MUSK Gene

(8) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MUSK Gene

Muscle, skeletal, receptor tyrosine kinase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MUSK Gene

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

Relevant External Links for MUSK Gene

GeneLoc Exon Structure for
MUSK
ECgene alternative splicing isoforms for
MUSK

Expression for MUSK Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MUSK Gene

mRNA expression in normal human tissues for MUSK Gene
mRNA expression by GTEx for MUSK GenemRNA expression by BioGPS for MUSK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUSK Gene

This gene is overexpressed in Muscle - Skeletal (x12.0) and Small Intestine - Terminal Ileum (x4.5).

Protein differential expression in normal tissues from HIPED for MUSK Gene

This gene is overexpressed in Testis (35.0) and Pancreatic juice (28.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MUSK Gene



Protein tissue co-expression partners for MUSK Gene

NURSA nuclear receptor signaling pathways regulating expression of MUSK Gene:

MUSK

SOURCE GeneReport for Unigene cluster for MUSK Gene:

Hs.521653

Evidence on tissue expression from TISSUES for MUSK Gene

  • Muscle(3.4)
  • Nervous system(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MUSK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • kidney
  • stomach
Pelvis:
  • pelvis
  • placenta
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • hair
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MUSK: view

No data available for mRNA Expression by UniProt/SwissProt for MUSK Gene

Orthologs for MUSK Gene

This gene was present in the common ancestor of animals.

Orthologs for MUSK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MUSK 34 33
  • 99.58 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MUSK 34 33
  • 90.6 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Musk 33
  • 88.63 (n)
mouse
(Mus musculus)
 Mammalia Musk 16 34 33
  • 87.75 (n)
dog
(Canis familiaris)
 Mammalia MUSK 33
  • 86.71 (n)
oppossum
(Monodelphis domestica)
 Mammalia MUSK 34
  • 83 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MUSK 34
  • 80 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MUSK 34 33
  • 74.94 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MUSK 34
  • 70 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia musk 33
  • 70.29 (n)
African clawed frog
(Xenopus laevis)
 Amphibia musk-A 33
zebrafish
(Danio rerio)
 Actinopterygii musk 34 33
  • 61.43 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Nrk 34 35 33
  • 56.35 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006988 33
  • 54.43 (n)
worm
(Caenorhabditis elegans)
 Secernentea kin-23 35
  • 33 (a)
Species where no ortholog for MUSK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MUSK Gene

ENSEMBL:
Gene Tree for MUSK (if available)
TreeFam:
Gene Tree for MUSK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MUSK: view image

Paralogs for MUSK Gene

Variants for MUSK Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MUSK Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1057518966 likely-pathogenic, Bilateral ptosis, Delayed gross motor development, Respiratory insufficiency, Stridor 110,800,743(+) G/A coding_sequence_variant, missense_variant
rs10980531 benign, not specified, Congenital Myasthenic Syndrome, Recessive 110,695,446(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs114362384 likely-benign, Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Pena-Shokeir syndrome type I 110,787,683(+) C/T intron_variant
rs116884176 uncertain-significance, Congenital Myasthenic Syndrome, Recessive 110,668,862(+) G/A/C 5_prime_UTR_variant, genic_upstream_transcript_variant
rs139945437 uncertain-significance, benign, Congenital Myasthenic Syndrome, Recessive, not specified 110,767,961(+) G/A coding_sequence_variant, intron_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for MUSK Gene

Variant ID Type Subtype PubMed ID
nsv957749 CNV deletion 24416366
nsv615175 CNV loss 21841781
nsv615174 CNV loss 21841781
nsv510201 OTHER sequence alteration 20534489
nsv476606 CNV novel sequence insertion 20440878
nsv466482 CNV gain 19166990
nsv436600 CNV deletion 17901297
nsv1146085 CNV deletion 26484159
nsv1142708 CNV deletion 24896259
nsv1136020 CNV deletion 24896259
nsv1117524 CNV tandem duplication 24896259
nsv1075265 CNV deletion 25765185
esv999248 CNV loss 20482838
esv994960 CNV loss 20482838
esv3621470 CNV loss 21293372
esv3621469 CNV loss 21293372
esv3545312 CNV deletion 23714750
esv3308254 CNV mobile element insertion 20981092
esv3307595 CNV mobile element insertion 20981092
esv3266273 CNV deletion 24192839
esv28185 CNV loss 19812545
esv2738928 CNV deletion 23290073
esv2738927 CNV deletion 23290073
esv2677020 CNV deletion 23128226
esv2665360 CNV deletion 23128226
esv2614598 CNV deletion 19546169
esv2298654 CNV deletion 18987734
esv1003568 CNV deletion 20482838
dgv12848n54 CNV loss 21841781
dgv12847n54 CNV loss 21841781

Variation tolerance for MUSK Gene

Residual Variation Intolerance Score: 77.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.77; 78.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUSK Gene

Human Gene Mutation Database (HGMD)
MUSK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUSK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUSK Gene

Disorders for MUSK Gene

MalaCards: The human disease database

(20) MalaCards diseases for MUSK Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MUSK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MUSK_HUMAN
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. {ECO:0000269 PubMed:15496425, ECO:0000269 PubMed:19949040, ECO:0000269 PubMed:20371544, ECO:0000269 PubMed:23326516, ECO:0000269 PubMed:24183479}. 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.
  • Fetal akinesia deformation sequence (FADS) [MIM:208150]: A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. {ECO:0000269 PubMed:25537362, ECO:0000269 PubMed:25612909}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MUSK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MUSK: view

No data available for Genatlas for MUSK Gene

Publications for MUSK Gene

  1. Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury. (PMID: 7546737) Valenzuela DM … Gies DR (Neuron 1995) 2 3 4 22 58
  2. Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. (PMID: 20371544) Maselli RA … Wollmann RL (Human molecular genetics 2010) 3 4 22 58
  3. MUSK, a new target for mutations causing congenital myasthenic syndrome. (PMID: 15496425) Chevessier F … Hantaï D (Human molecular genetics 2004) 3 4 22 58
  4. MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). (PMID: 25612909) Wilbe M … Bondeson ML (Journal of medical genetics 2015) 3 4 58
  5. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. (PMID: 25537362) Tan-Sindhunata MB … Groffen AJ (European journal of human genetics : EJHG 2015) 3 4 58

Products for MUSK Gene

Sources for MUSK Gene

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