MUSK (muscle associated receptor tyrosine kinase)

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
SNPs SNP information provided by dbSNP.
19
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601296 7525 ENSG00000030304
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bilateral ptosis Likely pathogenic; Pathogenic rs751889864 RCV000414863
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome 4C Pathogenic rs200783529 RCV000193437
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (49 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Delayed gross motor development Likely pathogenic; Pathogenic rs751889864 RCV000414863
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (20)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital Myasthenic Syndrome, Recessive Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FETAL AKINESIA DEFORMATION SEQUENCE — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (212)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absence of septum pellucidum Absence Of Septum Pellucidum HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 23555103
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 20703256
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 20703256
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 21613373
★★★★★
★☆☆☆☆
Found in Text Mining only
Akinesia Akinesia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic sensitization Allergic Sensitization BEFREE 21793953
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 31456060
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosis of the elbow joint Elbow ankylosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 31817859 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only