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MUSK

Summary: 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].

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Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
Namemuscle associated receptor tyrosine kinase OMIM IDMIM:601296 Ensembl IDEnsembl:ENSG00000030304 HGNC IDHGNC:HGNC:7525 PHARMGKB IDPA31326 Map Location9q31.3

Gene Categories:

KINASE DRUGGABLE GENOME TYROSINE KINASE

GO terms in MUSK

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Term Type	Evidence Type	GO Term ID	GO Des.
MF	IBA	GO:0004709	MAP kinase kinase kinase activity
MF	IBA	GO:0004713	protein tyrosine kinase activity
MF	ISS	GO:0004713	protein tyrosine kinase activity
MF	IBA	GO:0004714	transmembrane receptor protein tyrosine kinase activity
MF	IEA	GO:0004714	transmembrane receptor protein tyrosine kinase activity
MF	IBA	GO:0004888	transmembrane signaling receptor activity

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Gene expression in normal tissue: MUSK

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in MUSK

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Database	Pathway ID	Pathway Des.
biocarta	achpathway	role of nicotinic acetylcholine receptors in the regulation of apoptosis
biocarta	agrpathway	agrin in postsynaptic differentiation
reactome	R-HSA-1474244	Extracellular matrix organization
reactome	R-HSA-3000178	ECM proteoglycans

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Gene-Drug: Aster Plot

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Drug ID	Drug Name	Model Num.
iGMDRD329	Merck60	3
iGMDRD552	AZD-1775	3
iGMDRD300	Tozasertib	3
iGMDRD202	Curcumin	1

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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in MUSK

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	Model	Level	Reference ID	Tissue	Cancer	Drug	Clinical Response	Source
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