Gene table of MUSK : muscle associated receptor tyrosine kinase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MUSK	OMIM link	Number of associated genes	genes
PS601462	MYASTHENIC SYNDROME, CONGENITAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	23	LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2
208150	FETAL AKINESIA DEFORMATION SEQUENCE	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	MUSK, RAPSN, DOK7

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Annotation of the gene MUSK

Associated genes in ENSEMBL

ENSG00000030304

Associated proteins - SwissProt Accession ID

O15146

Associated PDB IDs

Cytogenetic Band

9q31.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
ECM proteoglycans	R-HSA-3000178	6.75
Extracellular matrix organization	R-HSA-1474244	4.91

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
purine ribonucleoside triphosphate binding	GO:0035639	2.22
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
transferase activity	GO:0016740	1.95
ion binding	GO:0043167	1.36
transmembrane receptor protein tyrosine kinase activity	GO:0004714	5.55
protein tyrosine kinase activity	GO:0004713	4.54
protein kinase activity	GO:0004672	3.27
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
kinase activity	GO:0016301	2.93
purine nucleoside binding	GO:0001883	2.22
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
adenyl nucleotide binding	GO:0030554	2.4
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
organic cyclic compound binding	GO:0097159	1.05
ribonucleoside binding	GO:0032549	2.22
carbohydrate derivative binding	GO:0097367	2.03
transmembrane signaling receptor activity	GO:0004888	2.57
adenyl ribonucleotide binding	GO:0032559	2.41
transmembrane receptor activity	GO:0099600	2.53
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
transmembrane receptor protein kinase activity	GO:0019199	5.32
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
receptor activity	GO:0004872	2.32