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Gene: MUSK (muscle associated receptor tyrosine kinase) Homo sapiens
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Symbol: MUSK
Name: muscle associated receptor tyrosine kinase
Description: Predicted to have transmembrane receptor protein tyrosine kinase activity. Involved in neuromuscular junction development and positive regulation of protein phosphorylation. Localizes to the receptor complex. Implicated in congenital myasthenic syndrome 9.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMS9; FADS; FADS1; MGC126323; MGC126324; muscle, skeletal receptor tyrosine-protein kinase; muscle, skeletal, receptor tyrosine kinase; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor
Orthologs:
Mus musculus (house mouse) : Musk (muscle, skeletal, receptor tyrosine kinase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Musk (muscle associated receptor tyrosine kinase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Musk (muscle associated receptor tyrosine kinase)
Pan paniscus (bonobo/pygmy chimpanzee) : MUSK (muscle associated receptor tyrosine kinase)
Canis lupus familiaris (dog) : MUSK (muscle associated receptor tyrosine kinase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Musk (muscle associated receptor tyrosine kinase)
Sus scrofa (pig) : MUSK (muscle associated receptor tyrosine kinase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389110,668,189 - 110,806,633 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379113,430,935 - 113,566,386 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369112,470,960 - 112,603,099 (+)NCBINCBI36hg18NCBI36
Build 349110,510,693 - 110,642,833NCBI
Celera983,932,761 - 84,062,557 (+)NCBI
Cytogenetic Map9q31.3NCBI
HuRef983,032,852 - 83,161,644 (+)NCBIHuRef
CHM1_19113,577,505 - 113,709,694 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on MUSK
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731781
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.