MUSK (muscle associated receptor tyrosine kinase)

2003-11-01  

Identity

HGNC
LOCATION
9q31.3
LOCUSID
ALIAS
CMS9,FADS,FADS1
FUSION GENES

Other Information

Locus ID:

NCBI: 4593
MIM: 601296
HGNC: 7525
Ensembl: ENSG00000030304

Variants:

dbSNP: 4593
ClinVar: 4593
TCGA: ENSG00000030304
COSMIC: MUSK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000030304ENST00000189978O15146
ENSG00000030304ENST00000374439F6XAJ2
ENSG00000030304ENST00000374440Q5T0B5
ENSG00000030304ENST00000374448O15146
ENSG00000030304ENST00000416899A0A087WSY1

Expression (GTEx)

0
1
2
3
4

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
ECM proteoglycansREACTOMER-HSA-3000178

References

Pubmed IDYearTitleCitations
167940802006The muscle protein Dok-7 is essential for neuromuscular synaptogenesis.121
242978912013MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.50
219693642011Agrin binds to the N-terminal region of Lrp4 protein and stimulates association between Lrp4 and the first immunoglobulin-like domain in muscle-specific kinase (MuSK).49
154964252004MUSK, a new target for mutations causing congenital myasthenic syndrome.47
183841682008Anti-MuSK patient antibodies disrupt the mouse neuromuscular junction.47
245302332014Diagnostic and clinical classification of autoimmune myasthenia gravis.45
242447072013MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.35
203715442010Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.32
185678562008Response to therapy in myasthenia gravis with anti-MuSK antibodies.28
209742782011Muscle specific kinase: organiser of synaptic membrane domains.26

Citation

Dessen P

MUSK (muscle associated receptor tyrosine kinase)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41463/musk