Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	4593
Gene name	Muscle associated receptor tyrosine kinase
Gene symbol	MUSK
Synonyms (NCBI Gene)	CMS9FADSFADS1
Chromosome	9
Chromosome location	9q31.3
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 myastheni

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41279055	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs55980069	T>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs199476083	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs200750233	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs200783529	T>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs375737188	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs376837791	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs397515450	C>T	Pathogenic	Missense variant, coding sequence variant
rs551423795	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs756877019	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs766640370	G>A	Pathogenic	Coding sequence variant, missense variant
rs863223335	->A	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs879255561	->C	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1057518966	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1204788520	G>A,C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1487680236	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554757211	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1554757237	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1587986079	A>G	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	25537362
GO:0001934	Process	Positive regulation of protein phosphorylation	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	ISS
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	22939624, 25036637, 35384245, 36931259
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	TAS	7546737
GO:0007528	Process	Neuromuscular junction development	IDA	25537362
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007528	Process	Neuromuscular junction development	ISS
GO:0007613	Process	Memory	ISS
GO:0008582	Process	Regulation of synaptic assembly at neuromuscular junction	ISS
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017147	Function	Wnt-protein binding	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0031594	Component	Neuromuscular junction	ISS
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0071340	Process	Skeletal muscle acetylcholine-gated channel clustering	ISS
GO:2000541	Process	Positive regulation of protein geranylgeranylation	ISS

MIM	HGNC	e!Ensembl
601296	7525	ENSG00000030304

O15146

Protein name

Muscle, skeletal receptor tyrosine-protein kinase (EC 2.7.10.1) (Muscle-specific tyrosine-protein kinase receptor) (MuSK) (Muscle-specific kinase receptor)

Protein 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 MUS

PDB

8S9P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07679	I-set	28 → 117	Immunoglobulin I-set domain	Domain
PF07679	I-set	121 → 208	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	213 → 286		Domain
PF01392	Fz	317 → 442	Fz domain	Domain
PF07714	PK_Tyr_Ser-Thr	575 → 856	Protein tyrosine and serine/threonine kinase	Domain

Sequence

MRELVNIPLVHILTLVAFSGTEKLPKAPVITTPLETVDALVEEVATFMCAVESYPQPEIS
WTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMK
PKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNV
QKEDAGQYRCVAKNSLGTAYSKVVKLEVEVFARILRAPESHNVTFGSFVTLHCTATGIPV
PTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAAT
ISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQELLVHTAWNELK
VVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLAVKELFCAKEWLVMEEKTHRG
LYRSEMHLLSVPECSKLPSMHWDPTACARLPHLDYNKENLKTFPPMTSSKPSVDIPNLPS
SSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLP
SELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDIGEGAFGRVFQARAPGLLPY
EPFTMVAVKMLKEEASADMQADFQREAALMAEFDNPNIVKLLGVCAVGKPMCLLFEYMAY
GDLNEFLRSMSPHTVCSLSHSDLSMRAQVSSPGPPPLSCAEQLCIARQVAAGMAYLSERK
FVHRDLATRNCLVGENMVVKIADFGLSRNIYSADYYKANENDAIPIRWMPPESIFYNRYT
TESDVWAYGVVLWEIFSYGLQPYYGMAHEEVIYYVRDGNILSCPENCPVELYNLMRLCWS
KLPADRPSFTSIHRILERMCERAEGTVSV

Sequence length

869

Interactions

View interactions

1399

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bilateral ptosis	Likely pathogenic; Pathogenic	rs751889864	RCV000414863
Congenital myasthenic syndrome 4C	Pathogenic	rs200783529	RCV000193437
Congenital myasthenic syndrome 9	Pathogenic; Likely pathogenic	rs1395885868, rs1255531873, rs2131720596, rs2132026515, rs2491048213, rs2491213298, rs867146882, rs751889864, rs1220602405, rs532285449, rs2490470325, rs200783529, rs2491146787, rs2491147739, rs756877019 View all (39 more)	RCV001380456 RCV001994540 RCV001956509 RCV002021473 RCV002285226 RCV002285227 RCV003066491 RCV002515221 RCV003104206 RCV002745770 RCV002862118 RCV001064004 RCV002880647 RCV002999013 RCV000202616 RCV000008723 RCV003447738 RCV003783067 RCV003795734 RCV003793156 RCV003793173 RCV003789269 RCV003789666 RCV003790438 RCV003785260 RCV003792672 RCV003796125 RCV003796367 RCV003791585 RCV003792424 RCV003806220 RCV003806951 RCV003793684 RCV003800134 RCV003804015 RCV003798602 RCV003802948 RCV003807019 RCV003802057 RCV003804580 RCV003812668 RCV003812975 RCV003810192 RCV003810302 RCV003810341 RCV000023093 RCV003767843 RCV000814197 RCV000823163 RCV000054418 RCV001053740 RCV001064003 RCV001218791 RCV001237058
Delayed gross motor development	Likely pathogenic; Pathogenic	rs751889864	RCV000414863
Fetal akinesia deformation sequence 1	Pathogenic; Likely pathogenic	rs1395885868, rs2131877883, rs1255531873, rs2131720596, rs2132026515, rs1412657094, rs867146882, rs863223335, rs751889864, rs1220602405, rs532285449, rs2490470325, rs200783529, rs2491146787, rs2491147739 View all (36 more)	RCV001380456 RCV003225978 RCV001994540 RCV001956509 RCV002021473 RCV002269798 RCV003066491 RCV000170587 RCV000170588 RCV003104206 RCV002745770 RCV002862118 RCV001064004 RCV002880647 RCV002999013 RCV003783067 RCV003795734 RCV003793156 RCV003793173 RCV003789269 RCV003789666 RCV003790438 RCV003785260 RCV003792672 RCV003796125 RCV003796367 RCV003791585 RCV003792424 RCV003806220 RCV003806951 RCV003793684 RCV003800134 RCV003804015 RCV003798602 RCV003802948 RCV003807019 RCV003802057 RCV003804580 RCV003812668 RCV003812975 RCV003810192 RCV003810302 RCV003810341 RCV003767843 RCV000677722 RCV000814197 RCV000823163 RCV001053740 RCV001064003 RCV001218791 RCV001237058
MUSK-related disorder	Likely pathogenic	rs775587809	RCV005407260
Respiratory insufficiency	Likely pathogenic; Pathogenic	rs751889864	RCV000414863
Stridor	Likely pathogenic; Pathogenic	rs751889864	RCV000414863

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Congenital Myasthenic Syndrome, Recessive	Conflicting classifications of pathogenicity	rs555725730, rs56181115	RCV000351550 RCV000337999
Malignant lymphoma, large B-cell, diffuse	Benign	rs2767011	RCV005902152
Uterine carcinosarcoma	Benign	rs12551974	RCV005906887

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amniotic Band Syndrome	Associate	36652541
Breast Neoplasms	Associate	35687718
Dropped Head Syndrome	Associate	25900532
Fetal akinesia syndrome X linked	Associate	30719842
Glycosuria Renal	Associate	37640745
Hashimoto Disease	Associate	32573488
Limb Deformities Congenital	Associate	37640745
Lung Neoplasms	Associate	27931220
Motor Neuron Disease	Associate	35468848
Muscle Weakness	Associate	37640745
Muscular Dystrophies Limb Girdle	Associate	24183479
Myasthenia Gravis	Associate	24244707, 24416182, 25893403, 30882021, 32820331
Myasthenia Gravis Autoimmune Experimental	Associate	32820331
Myasthenic syndrome congenital type Id	Associate	30719842
Myasthenic Syndromes Congenital	Associate	24183479, 24244707, 25900532, 30719842, 36308527, 36579833, 37640745, 37721175
Neoplasm Metastasis	Associate	35687718
Neoplasms	Inhibit	27931220
Neuromuscular Diseases	Associate	24244707
Neuromuscular Junction Diseases	Associate	37640745
Pena Shokeir syndrome type 1	Associate	25537362
Pneumonia Lipid	Associate	36652541
Pulmonary Disease Chronic Obstructive	Associate	30111857
Respiratory Insufficiency	Associate	25900532
Split Hand Foot Malformation With Sensorineural Hearing Loss	Associate	37640745
Syndactyly Cenani Lenz type	Associate	37640745
Thyroid Cancer Papillary	Associate	28402931
Vocal Cord Paralysis	Associate	30719842

MUSK (muscle associated receptor tyrosine kinase)