MUSK (muscle associated receptor tyrosine kinase)

2003-11-01  

Identity

HGNC
MUSK
LOCATION
9q31.3
LOCUSID
4593
ALIAS
CMS9,FADS,FADS1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4593
MIM: 601296
HGNC: 7525
Ensembl: ENSG00000030304

Variants:

dbSNP: 4593
ClinVar: 4593
TCGA: ENSG00000030304
COSMIC: MUSK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000030304ENST00000189978O15146
ENSG00000030304ENST00000374439F6XAJ2
ENSG00000030304ENST00000374440Q5T0B5
ENSG00000030304ENST00000374448O15146
ENSG00000030304ENST00000416899A0A087WSY1

Expression (GTEx)

0
1
2
3
4
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
ECM proteoglycansREACTOMER-HSA-3000178

References

Pubmed IDYearTitleCitations
365259972023Proteolytic ectodomain shedding of muscle-specific tyrosine kinase in myasthenia gravis.0
365798332023A 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
373567212023The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.1
365259972023Proteolytic ectodomain shedding of muscle-specific tyrosine kinase in myasthenia gravis.0
365798332023A 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
373567212023The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.1
352460572022Spotlight on MuSK positive myasthenia gravis: clinical characteristics, treatment and outcomes.1
352460572022Spotlight on MuSK positive myasthenia gravis: clinical characteristics, treatment and outcomes.1
343479752021Differential Expression of miRNA in the Peripheral Blood Mononuclear Cells in Myasthenia Gravis with Muscle-Specific Receptor Tyrosine Kinase Antibodies.4
343893812021Steric 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
343479752021Differential Expression of miRNA in the Peripheral Blood Mononuclear Cells in Myasthenia Gravis with Muscle-Specific Receptor Tyrosine Kinase Antibodies.4
343893812021Steric 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
317650602020Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.13
322531452020Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review.3
325734882020Single-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