Identity
HGNC
LOCATION
9q31.3
LOCUSID
ALIAS
CMS9,FADS,FADS1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4593
MIM: 601296
HGNC: 7525
Ensembl: ENSG00000030304
Variants:
dbSNP: 4593
ClinVar: 4593
TCGA: ENSG00000030304
COSMIC: MUSK
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Extracellular matrix organization | REACTOME | R-HSA-1474244 |
| ECM proteoglycans | REACTOME | R-HSA-3000178 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36525997 | 2023 | Proteolytic ectodomain shedding of muscle-specific tyrosine kinase in myasthenia gravis. | 0 |
| 36579833 | 2023 | A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells. | 4 |
| 37356721 | 2023 | The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction. | 1 |
| 36525997 | 2023 | Proteolytic ectodomain shedding of muscle-specific tyrosine kinase in myasthenia gravis. | 0 |
| 36579833 | 2023 | A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells. | 4 |
| 37356721 | 2023 | The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction. | 1 |
| 35246057 | 2022 | Spotlight on MuSK positive myasthenia gravis: clinical characteristics, treatment and outcomes. | 1 |
| 35246057 | 2022 | Spotlight on MuSK positive myasthenia gravis: clinical characteristics, treatment and outcomes. | 1 |
| 34347975 | 2021 | Differential Expression of miRNA in the Peripheral Blood Mononuclear Cells in Myasthenia Gravis with Muscle-Specific Receptor Tyrosine Kinase Antibodies. | 4 |
| 34389381 | 2021 | Steric and energetic characterizations of mouse and human musk receptors activated by nitro musk smelling compounds at molecular level: Statistical physics treatment and molecular docking analysis. | 1 |
| 34347975 | 2021 | Differential Expression of miRNA in the Peripheral Blood Mononuclear Cells in Myasthenia Gravis with Muscle-Specific Receptor Tyrosine Kinase Antibodies. | 4 |
| 34389381 | 2021 | Steric and energetic characterizations of mouse and human musk receptors activated by nitro musk smelling compounds at molecular level: Statistical physics treatment and molecular docking analysis. | 1 |
| 31765060 | 2020 | Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure. | 13 |
| 32253145 | 2020 | Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review. | 3 |
| 32573488 | 2020 | Single-cell repertoire tracing identifies rituximab-resistant B cells during myasthenia gravis relapses. | 30 |
Citation
Dessen P
MUSK (muscle associated receptor tyrosine kinase)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/41463/musk
