Property Summary

NCBI Gene PubMed Count 53
Grant Count 154
R01 Count 119
Funding $13,275,944.23
PubMed Score 426.10
PubTator Score 231.18

Knowledge Summary

Patent (86,209)

Expression

  Differential Expression (3)

Disease log2 FC p
medulloblastoma, large-cell 1.100 0.000
posterior fossa group B ependymoma 1.500 0.000
lung carcinoma -1.400 0.000

Synonym

Accession O15146 Q32MJ8 Q32MJ9 Q5VZW7 Q5VZW8
Symbols CMS9
FADS

Gene

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448

Gene RIF (40)

PMID Text
26778359 Classical electromyography revealed the presence of myopathic changes more frequently in MuSK myasthenia gravis compared to acetylcholine receptor myasthenia gravis
25893403 Immunosuppression attenuates the Th1 response in AChR-myasthenia gravis (MG) and MuSK-MG, but otherwise modulates immune responses in AChR-MG and MuSK-MG patients differentially.
25612909 To our knowledge, this is the first report showing that a mutation in MuSK is associated with Fetal akinesia deformation sequence syndrome
25537362 A Dutch founder mutation in MUSK causing fetal akinesia deformation sequence has been found in 14 fetuses.
25354590 HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform.
24530233 [review] Recent discovery of two novel target proteins (MuSK and LRP4) has reduced the percentage of patients without known autoantibodies, although there are still some seronegative myasthenia gravis patients.
24447338 The amplified luminescent proximity homogeneous assay (AlphaScreen) identifies the interaction of HIV-1 Gag with MUSK
24416182 HEp-2 M4 cells revealed a high specificity for the detection of MuSK autoantibodies from 25 patient sera.
24297891 pathogenic IgG4 antibodies to MuSK bind to a structural epitope in the first Ig-like domain of MuSK, prevent binding between MuSK and Lrp4, and inhibit Agrin-stimulated MuSK phosphorylation.
24244707 MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters
More...

AA Sequence

MRELVNIPLVHILTLVAFSGTEKLPKAPVITTPLETVDALVEEVATFMCAVESYPQPEISWTRNKILIKL      1 - 70
FDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMKPKITRPPINVKIIEGLKAVL     71 - 140
PCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNVQKEDAGQYRCVAKNSLGTAYSKVVKLEVEV    141 - 210
FARILRAPESHNVTFGSFVTLHCTATGIPVPTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLY    211 - 280
TCIATNKHGEKFSTAKAAATISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQEL    281 - 350
LVHTAWNELKVVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLAVKELFCAKEWLVMEEKTHRG    351 - 420
LYRSEMHLLSVPECSKLPSMHWDPTACARLPHLDYNKENLKTFPPMTSSKPSVDIPNLPSSSSSSFSVSP    421 - 490
TYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLPSELLLDRLHPNPMYQRMPLL    491 - 560
LNPKLLSLEYPRNNIEYVRDIGEGAFGRVFQARAPGLLPYEPFTMVAVKMLKEEASADMQADFQREAALM    561 - 630
AEFDNPNIVKLLGVCAVGKPMCLLFEYMAYGDLNEFLRSMSPHTVCSLSHSDLSMRAQVSSPGPPPLSCA    631 - 700
EQLCIARQVAAGMAYLSERKFVHRDLATRNCLVGENMVVKIADFGLSRNIYSADYYKANENDAIPIRWMP    701 - 770
PESIFYNRYTTESDVWAYGVVLWEIFSYGLQPYYGMAHEEVIYYVRDGNILSCPENCPVELYNLMRLCWS    771 - 840
KLPADRPSFTSIHRILERMCERAEGTVSV                                             841 - 869
//

Text Mined References (58)

PMID Year Title
26778359 2016 Myopathic changes detected by quantitative electromyography in patients with MuSK and AChR positive myasthenia gravis.
25893403 2015 Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK.
25612909 2015 MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
25537362 2015 Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
25354590 2014 HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform.
25029443 2014 Evolutionary divergence in the catalytic activity of the CAM-1, ROR1 and ROR2 kinase domains.
24530233 Diagnostic and clinical classification of autoimmune myasthenia gravis.
24416182 2014 Stable expression of human muscle-specific kinase in HEp-2 M4 cells for automatic immunofluorescence diagnostics of myasthenia gravis.
24297891 2013 MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.
24244707 2013 MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.
More...