MUSK (muscle associated receptor tyrosine kinase)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4593
Gene name Gene Name - the full gene name approved by the HGNC.
Muscle associated receptor tyrosine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MUSK
Synonyms (NCBI Gene) Gene synonyms aliases
CMS9, FADS, FADS1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMS9, FADS1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(29)
GO ID Ontology Definition Evidence Reference
GO:0001934 Process Positive regulation of protein phosphorylation IMP 25537362
GO:0001934 Process Positive regulation of protein phosphorylation ISS
GO:0004713 Function Protein tyrosine kinase activity ISS
GO:0004714 Function Transmembrane receptor protein tyrosine kinase activity IBA 21873635
GO:0005515 Function Protein binding IPI 22939624
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601296 7525 ENSG00000030304
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (9)
Causal
Disease term Disease name dbSNP ID References
Akinesia Akinesia rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335
View all (33 more)
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Myasthenic syndrome Postsynaptic congenital myasthenic syndromes, Myasthenic Syndromes, Congenital, MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922
View all (237 more)		 19949040
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Show/Hide Unknown Diseases (6)
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Myasthenic Syndrome congenital myasthenic syndrome 9, postsynaptic congenital myasthenic syndrome GenCC
Fetal Akinesia Deformation Sequence fetal akinesia deformation sequence 1 GenCC
Show/Hide Text Mining Associations (27)
Associations from Text Mining
Disease Name Relationship Type References
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