Browse MUSK

Summary
SymbolMUSK
Namemuscle, skeletal, receptor tyrosine kinase
Aliases CMS9; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor; Muscle, skeletal re ......
Chromosomal Location9q31.3-q32
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Cell junction, synapse, postsynaptic cell membrane Single-pass type I membrane protein Note=Colocalizes with acetylcholine receptors (AChR) to the postsynaptic cell membrane of the neuromuscular junction.
Domain PF01392 Fz domain
PF07679 Immunoglobulin I-set domain
PF07714 Protein tyrosine kinase
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 MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation (By similarity).

> Gene Ontology
 
Biological Process GO:0001941 postsynaptic membrane organization
GO:0007416 synapse assembly
GO:0007528 neuromuscular junction development
GO:0007611 learning or memory
GO:0007613 memory
GO:0008582 regulation of synaptic growth at neuromuscular junction
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0018212 peptidyl-tyrosine modification
GO:0018342 protein prenylation
GO:0018344 protein geranylgeranylation
GO:0043113 receptor clustering
GO:0044708 single-organism behavior
GO:0046777 protein autophosphorylation
GO:0048638 regulation of developmental growth
GO:0050803 regulation of synapse structure or activity
GO:0050807 regulation of synapse organization
GO:0050808 synapse organization
GO:0050890 cognition
GO:0051124 synaptic growth at neuromuscular junction
GO:0051668 localization within membrane
GO:0051963 regulation of synapse assembly
GO:0071340 skeletal muscle acetylcholine-gated channel clustering
GO:0072657 protein localization to membrane
GO:0097354 prenylation
GO:1904396 regulation of neuromuscular junction development
GO:2000539 regulation of protein geranylgeranylation
GO:2000541 positive regulation of protein geranylgeranylation
Molecular Function GO:0004713 protein tyrosine kinase activity
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0019199 transmembrane receptor protein kinase activity
Cellular Component GO:0031594 neuromuscular junction
GO:0043235 receptor complex
GO:0045211 postsynaptic membrane
GO:0097060 synaptic membrane
GO:0098794 postsynapse
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-3000178: ECM proteoglycans
R-HSA-1474244: Extracellular matrix organization
Summary
SymbolMUSK
Namemuscle, skeletal, receptor tyrosine kinase
Aliases CMS9; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor; Muscle, skeletal re ......
Chromosomal Location9q31.3-q32
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between MUSK and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 

There is no record.

Summary
SymbolMUSK
Namemuscle, skeletal, receptor tyrosine kinase
Aliases CMS9; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor; Muscle, skeletal re ......
Chromosomal Location9q31.3-q32
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of MUSK in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolMUSK
Namemuscle, skeletal, receptor tyrosine kinase
Aliases CMS9; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor; Muscle, skeletal re ......
Chromosomal Location9q31.3-q32
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of MUSK in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)141201
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)6501
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)8701
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.1520.707
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-0.6290.653
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470.4540.801
729033130MelanomaallAnti-PD-1 (nivolumab) 26231.5190.0487
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15111.1130.454
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11122.1630.221
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 48-0.0390.925
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 28-0.0390.951
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 682300.0020.995
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of MUSK in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27737.48.2-0.81
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27597.410.2-2.81
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)211714.311.82.51
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)8612.5012.51
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)131115.418.2-2.81
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160001
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590001
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 38272.602.61
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22134.504.51
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 111307.7-7.71
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 51208.3-8.31
Summary
SymbolMUSK
Namemuscle, skeletal, receptor tyrosine kinase
Aliases CMS9; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor; Muscle, skeletal re ......
Chromosomal Location9q31.3-q32
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of MUSK. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolMUSK
Namemuscle, skeletal, receptor tyrosine kinase
Aliases CMS9; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor; Muscle, skeletal re ......
Chromosomal Location9q31.3-q32
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of MUSK. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by MUSK.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolMUSK
Namemuscle, skeletal, receptor tyrosine kinase
Aliases CMS9; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor; Muscle, skeletal re ......
Chromosomal Location9q31.3-q32
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of MUSK. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolMUSK
Namemuscle, skeletal, receptor tyrosine kinase
Aliases CMS9; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor; Muscle, skeletal re ......
Chromosomal Location9q31.3-q32
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of MUSK expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolMUSK
Namemuscle, skeletal, receptor tyrosine kinase
Aliases CMS9; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor; Muscle, skeletal re ......
Chromosomal Location9q31.3-q32
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between MUSK and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolMUSK
Namemuscle, skeletal, receptor tyrosine kinase
Aliases CMS9; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor; Muscle, skeletal re ......
Chromosomal Location9q31.3-q32
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting MUSK collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.