MUSK
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| muscle associated receptor tyrosine kinase | MIM:601296 | Ensembl:ENSG00000030304 | HGNC:HGNC:7525 | PA31326 | 9q31.3 |
GO terms in MUSK
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004709 | MAP kinase kinase kinase activity |
| MF | IBA | GO:0004713 | protein tyrosine kinase activity |
| MF | ISS | GO:0004713 | protein tyrosine kinase activity |
| MF | IBA | GO:0004714 | transmembrane receptor protein tyrosine kinase activity |
| MF | IEA | GO:0004714 | transmembrane receptor protein tyrosine kinase activity |
| MF | IBA | GO:0004888 | transmembrane signaling receptor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IBA | GO:0017147 | Wnt-protein binding |
| MF | IBA | GO:0031434 | mitogen-activated protein kinase kinase binding |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | IBA | GO:0001934 | positive regulation of protein phosphorylation |
| BP | IMP | GO:0001934 | positive regulation of protein phosphorylation |
| BP | ISS | GO:0001934 | positive regulation of protein phosphorylation |
| BP | TAS | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway |
| BP | IBA | GO:0007275 | multicellular organism development |
| BP | IEA | GO:0007275 | multicellular organism development |
| BP | IDA | GO:0007528 | neuromuscular junction development |
| BP | ISS | GO:0007528 | neuromuscular junction development |
| BP | ISS | GO:0007613 | memory |
| BP | ISS | GO:0008582 | regulation of synaptic growth at neuromuscular junction |
| BP | IBA | GO:0009968 | negative regulation of signal transduction |
| BP | ISS | GO:0010628 | positive regulation of gene expression |
| BP | IEA | GO:0018108 | peptidyl-tyrosine phosphorylation |
| BP | IBA | GO:0030154 | cell differentiation |
| BP | IEA | GO:0030154 | cell differentiation |
| BP | IBA | GO:0033674 | positive regulation of kinase activity |
| BP | IBA | GO:0043066 | negative regulation of apoptotic process |
| BP | ISS | GO:0046777 | protein autophosphorylation |
| BP | IBA | GO:0070374 | positive regulation of ERK1 and ERK2 cascade |
| BP | ISS | GO:0071340 | skeletal muscle acetylcholine-gated channel clustering |
| BP | ISS | GO:2000541 | positive regulation of protein geranylgeranylation |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | ISS | GO:0005887 | integral component of plasma membrane |
| CC | IEA | GO:0030054 | cell junction |
| CC | ISS | GO:0031594 | neuromuscular junction |
| CC | IBA | GO:0043235 | receptor complex |
| CC | IDA | GO:0043235 | receptor complex |
| CC | ISS | GO:0045211 | postsynaptic membrane |
Gene expression in normal tissue: MUSK
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MUSK
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | achpathway | role of nicotinic acetylcholine receptors in the regulation of apoptosis |
| biocarta | agrpathway | agrin in postsynaptic differentiation |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-3000178 | ECM proteoglycans |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD329 | Merck60 | 3 |
| iGMDRD552 | AZD-1775 | 3 |
| iGMDRD300 | Tozasertib | 3 |
| iGMDRD202 | Curcumin | 1 |
| iGMDRD158 | NSC141540 | 3 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD351 | GW843682X | 1 |
| iGMDRD123 | Isoevodiamine | 2 |
| iGMDRD511 | CHEMBL399379 | 3 |
| iGMDRD435 | BI-2536 | 3 |
| iGMDRD84 | Lovastatin acid | 2 |
| iGMDRD248 | BRD4354 | 1 |
| iGMDRD424 | Tamatinib | 2 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 4 |
| iGMDRD74 | Idarubicin | 2 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD100 | Zebularine | 4 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD64 | Parbendazole | 5 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD524 | ISX-9 | 3 |
| iGMDRD356 | PNU-74654 | 2 |
| iGMDRD138 | PX 12 | 3 |
| iGMDRD294 | Batimastat | 1 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD193 | Fqi1 | 3 |
| iGMDRD394 | BX-795 | 3 |
| iGMDRD280 | CYTOCHALASIN B | 8 |
| iGMDRD433 | Lexibulin | 3 |
| iGMDRD387 | CHIR-99021 | 2 |
| iGMDRD546 | BMS-754807 | 1 |
| iGMDRD670 | ML 210 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MUSK
CLASSFICATION
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