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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 myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
MUSK (Muscle Associated Receptor Tyrosine Kinase) is a Protein Coding gene. Diseases associated with MUSK include Fetal Akinesia Deformation Sequence 1 and Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Degradation of the extracellular matrix and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ROS1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004713 | protein tyrosine kinase activity | IEA,ISS | -- |
GO:0004714 | transmembrane receptor protein tyrosine kinase activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IEA,IPI | 22939624 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0005887 | integral component of plasma membrane | IBA,ISS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
|
2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
3 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
4 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
|
CDC42 Pathway
.41
|
5 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
|
Activation of PKA through GPCR
.71
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001934 | positive regulation of protein phosphorylation | ISS | -- |
GO:0006468 | protein phosphorylation | IEA | -- |
GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | TAS,IBA | 21873635 |
GO:0007275 | multicellular organism development | IBA | 21873635 |
GO:0007399 | nervous system development | IBA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||
SP4: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MUSK 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MUSK 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Musk 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Musk 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MUSK 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MUSK 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MUSK 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MUSK 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MUSK 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | musk 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | musk-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | musk 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Nrk 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006988 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | kin-23 32 |
|
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639738 | Uncertain Significance: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 110,747,635(+) | T/A | INTRON_VARIANT | |
640198 | Uncertain Significance: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 110,800,895(+) | G/C | MISSENSE_VARIANT | |
641151 | Uncertain Significance: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 110,775,827(+) | A/G | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
641945 | Uncertain Significance: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 110,682,805(+) | G/A | INTRON_VARIANT | |
642369 | Uncertain Significance: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 110,800,586(+) | C/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
fetal akinesia deformation sequence 1 |
|
|
myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency |
|
|
myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency |
|
|
postsynaptic congenital myasthenic syndromes |
|
|
congenital myasthenic syndrome |
|