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Musk
Gene Detail
 Symbol
Name
ID
Musk
muscle, skeletal, receptor tyrosine kinase
MGI:103581
Synonyms MDK4, Nsk1, Nsk2, Nsk3
Feature Type protein coding gene
Genetic Map
Chromosome 4
31.87 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr4:58285962-58374303 bp, + strand
From VEGA annotation of GRCm38

  88342 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4084  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: muscle skeletal receptor tyrosine protein kinase
Gene Tree: Musk

Human
homologs
Human Homolog MUSK, muscle, skeletal, receptor tyrosine kinase
NCBI Gene ID 4593
neXtProt AC  NX_O15146
Human Chr (Location)  9q31.3-q32; chr9:110668655-110804106 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human MUSK
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted null mutation lack neuromuscular synapses and spontaneous movement, and die at birth of respiratory failure.
 
Human Diseases Modeled Using Mouse Musk (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Musk interacts with 141 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (62 annotations)
Process cell differentiation, long-term synaptic potentiation, ...
Component cell junction, cell projection, ...
Function ATP binding, kinase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (26 records)
Data Summary: Results (176)    Tissues (48)    Images (24)
Theiler Stages: 13, 17, 20, 22, 23, 26, 28
Assay TypeResults
Immunohistochemistry 3
RNA in situ 160
Northern blot 13
cDNA source data(16)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(21) Genomic(4) cDNA(17)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000007438 (Evidence)
Ensembl Gene ModelENSMUSG00000057280 (Evidence)
Entrez Gene18198 (Evidence)
UniGene16148
DFCITC1588133, TC1592529, TC1594798, TC1596327, TC1596406
DoTSDT.110792686, DT.110792688, DT.110792692, DT.482041, DT.91398545, DT.97407415
NIA Mouse Gene IndexU004368
EC2.7.10.1
PDB3ML4
Consensus CDS ProjectCCDS18210.1, CCDS18211.1, CCDS38770.1, CCDS51182.1
International Mouse Knockout Project StatusMusk
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000007438 VEGA Gene Model | MGI Sequence Detail 88342 C57BL/6J ±  kb
transcript OTTMUST00000017196 VEGA | MGI Sequence Detail 3347 Not Applicable 
polypeptide OTTMUSP00000007948 VEGA | MGI Sequence Detail 868 Not Applicable 

For the selected sequences
All sequences(77) RefSeq(18) UniProt(12)
Polymorphisms RFLP(2) : SNPs within 2kb(907 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR020067 Frizzled domain
InterPro IPR013098 Immunoglobulin I-set
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003598 Immunoglobulin subtype 2
InterPro IPR017441 Protein kinase, ATP binding site
InterPro IPR000719 Protein kinase, catalytic domain
InterPro IPR011009 Protein kinase-like domain
InterPro IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
InterPro IPR008266 Tyrosine-protein kinase, active site
InterPro IPR020635 Tyrosine-protein kinase, catalytic domain
Protein Ontology PR:000010780 muscle, skeletal receptor tyrosine-protein kinase
References (Earliest) J:27415 Ganju P, et al., Cloning and developmental expression of Nsk2, a novel receptor tyrosine kinase implicated in skeletal myogenesis. Oncogene. 1995 Jul 20;11(2):281-90
(Latest) J:207796 Choi HY, et al., APP interacts with LRP4 and agrin to coordinate the development of the neuromuscular junction in mice. Elife. 2013;2:e00220
All references(85)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-24192, MGD-MRK-24466, MGD-MRK-38403, MGI:103308, MGI:109358

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory