MUSK

GENERAL INFORMATION

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Gene name

MUSK

Gene description

Muscle, skeletal, receptor tyrosine kinase

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Tissue enhanced (skeletal muscle, small intestine)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (skeletal muscle, small intestine)

Organ

Expression



GENE INFORMATION

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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)

110668771 - 110801579

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000030304 (version 78.38)

Entrez gene

4593

UniProt

O15146 (UniProt - Evidence at protein level)

neXtProt

NX_O15146

Antibodypedia

MUSK antibodies


PROTEIN BROWSER

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ENST00000189978
 
ENST00000374438
 
ENST00000374439
 
ENST00000374440
 
ENST00000374448
 
ENST00000416899
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MUSK-001 ENSP00000363571
ENST00000374448
O15146
Show all »
Show » Show » 869 97.1 Yes 1
MUSK-002 ENSP00000393608
ENST00000416899
Show » Show » 861 96 Yes 1
MUSK-003 ENSP00000363562
ENST00000374439
Q5T0B5
Show all »
Show » Show » 116 12.6 No 0
MUSK-004 ENSP00000363561
ENST00000374438
Q5VZW9
Show all »
Show » Show » 189 21.1 No 0
MUSK-201 ENSP00000189978
ENST00000189978
O15146
Show all »
Show » Show » 783 87.6 Yes 1
MUSK-202 ENSP00000363563
ENST00000374440
Show » Show » 783 87.5 Yes 1