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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
CRRD ID: 731781
Description: Predicted to have PDZ domain binding activity; collagen binding activity; and protein tyrosine kinase collagen receptor activity. Involved in neuromuscular junction development and positive regulation of protein phosphorylation. Localizes to receptor complex. Implicated in congenital myasthenic syndrome 9 and fetal akinesia deformation sequence syndrome 1. Biomarker of myasthenia gravis.
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)
Chlorocebus sabaeus (African green monkey) : MUSK (muscle associated receptor tyrosine kinase)
Heterocephalus glaber (naked mole-rat) : 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
GRCh38.p13 Ensembl9110,668,779 - 110,806,558 (+)EnsemblGRCh38hg38GRCh38
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
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ 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: 2020-11-10
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.