MUSK

GENE INFORMATION

? »

Gene name

MUSK

Synonyms

Description

Muscle, skeletal, receptor tyrosine kinase (HGNC Symbol)

Entrez gene 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]

Chromosome

9

Cytoband

q31.3

Chromosome location (bp)

113431051 - 113563859

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000030304 (version 75.37)

Entrez gene

4593

UniProt

O15146 (UniProt - Evidence at protein level)

neXtProt

NX_O15146

Antibodypedia

MUSK antibodies
 

PROTEIN VIEW

? »
 
 
 
MUSK-001
 
MUSK-002
 
MUSK-003
 
MUSK-004
 
MUSK-201
 
MUSK-202
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MUSK-001 ENSP00000189978
ENST00000189978
Show » Show » 869 97 Yes 1
MUSK-002 ENSP00000393608
ENST00000416899
Show » Show » 861 95.9 Yes 1
MUSK-003 ENSP00000363562
ENST00000374439
Q5T0B5
Show all »
Show » 116 12.6 No 0
MUSK-004 ENSP00000363561
ENST00000374438
Q5VZW9
Show all »
Show » 189 21.1 No 0
MUSK-201 ENSP00000363563
ENST00000374440
Q5T0B5
Show all »
Show » 116 12.6 No 0
MUSK-202 ENSP00000363571
ENST00000374448
O15146
Show all »
Show » Show » 869 97.1 Yes 1