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; chr9:113431051-113563278 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human MUSK

Alleles and phenotypes

All alleles(4) : Targeted(4)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (58 annotations)

Process	cell differentiation, long-term synaptic potentiation, ...
Component	cell junction, cell projection, ...
Function	ATP binding, kinase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (25 records)
Data Summary: Results (176)    Tissues (48)    Images (24)
Theiler Stages: 13, 17, 20, 22, 23, 26, 28

Assay Type	Results
Immunohistochemistry	3
RNA in situ	160
Northern blot	13

cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(21) Genomic(4) cDNA(17)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000007438 (Evidence)
Ensembl Gene Model	ENSMUSG00000057280 (Evidence)
Entrez Gene	18198 (Evidence)
UniGene	16148
DFCI	TC1588133, TC1592529, TC1594798, TC1596327, TC1596406
DoTS	DT.110792686, DT.110792688, DT.110792692, DT.482041, DT.91398545, DT.97407415
NIA Mouse Gene Index	U004368
EC	2.7.10.1
PDB	3ML4
Consensus CDS Project	CCDS18210.1, CCDS18211.1, CCDS38770.1, CCDS51182.1
International Mouse Knockout Project Status	Musk

Sequences

Length	Strain/Species
genomic	OTTMUSG00000007438	VEGA Gene Model | MGI Sequence Detail	88342	C57BL/6J
transcript	OTTMUST00000017196	VEGA | MGI Sequence Detail	3347	Not Applicable
polypeptide	OTTMUSP00000007948	VEGA | MGI Sequence Detail	868	Not Applicable

All sequences(70) RefSeq(12) UniProt(11)

Polymorphisms

RFLP(2) : SNPs(553 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR020067	Frizzled domain
InterPro	IPR013098	Immunoglobulin I-set
InterPro	IPR007110	Immunoglobulin-like
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:194894 Couesnon A, et al., CLIPR-59: a protein essential for neuromuscular junction stability during mouse late embryonic development. Development. 2013 Apr;140(7):1583-93
All references(81)

Other accession IDs

MGD-MRK-24192, MGD-MRK-24466, MGD-MRK-38403, MGI:103308, MGI:109358