Gene

musk

ID
ZDB-GENE-030131-6458
Name
muscle, skeletal, receptor tyrosine kinase
Symbol
musk Nomenclature History
Previous Names
  • fj98e12
  • si:busm1-57f23.3 (1)
  • si:dz46m7.2
  • si:dz57f23.3
  • unp
  • unplugged
  • wu:fj98e12
  • zgc:63467
Type
protein_coding_gene
Location
Chr: 10 Mapping Details/Browsers
Description
Exhibits identical protein binding activity. Involved in generation of neurons and neuromuscular junction development. Localizes to postsynaptic membrane. Is expressed in adaxial cell; musculature system; pectoral fin; and somite. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 9 and fetal akinesia deformation sequence syndrome 1. Orthologous to human MUSK (muscle associated receptor tyrosine kinase).
Genome Resources
Note
None
Expression
All Expression Data
10 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 6 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With musk Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital myasthenic syndrome 9 Alliance Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325
fetal akinesia deformation sequence syndrome 1 Alliance Fetal akinesia deformation sequence 1 208150
Associated With musk Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR008266 Tyrosine-protein kinase, active site
Binding_site IPR017441 Protein kinase, ATP binding site
Conserved_site IPR018056 Kringle, conserved site
Domain IPR000001 Kringle
Domain IPR000719 Protein kinase domain
Domain IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain
Domain IPR003598 Immunoglobulin subtype 2
Domain IPR003599 Immunoglobulin subtype
Domain IPR007110 Immunoglobulin-like domain
Domain IPR013098 Immunoglobulin I-set
Domain IPR020067 Frizzled domain
Domain IPR020635 Tyrosine-protein kinase, catalytic domain
Homologous_superfamily IPR011009 Protein kinase-like domain superfamily
Homologous_superfamily IPR013783 Immunoglobulin-like fold
Homologous_superfamily IPR013806 Kringle-like fold
Homologous_superfamily IPR036179 Immunoglobulin-like domain superfamily
Homologous_superfamily IPR036790 Frizzled cysteine-rich domain superfamily
Homologous_superfamily IPR038178 Kringle superfamily
Domain Details Per Protein
Protein Length Frizzled cysteine-rich domain superfamily Frizzled domain Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin-like domain superfamily Immunoglobulin-like fold Immunoglobulin subtype Immunoglobulin subtype 2 Kringle Kringle, conserved site Kringle-like fold Kringle superfamily Protein kinase, ATP binding site Protein kinase domain Protein kinase-like domain superfamily Serine-threonine/tyrosine-protein kinase, catalytic domain Tyrosine-protein kinase, active site Tyrosine-protein kinase, catalytic domain
UniProtKB:A0A0R4IZ74 941
UniProtKB:A4JYH3 300
UniProtKB:Q5J1R9 941
UniProtKB:A0A0R4IJJ5 248
UniProtKB:Q5J1R8 676
UniProtKB:A4JYH2 565
UniProtKB:Q7SY58 351
UniProtKB:Q7ZZ92 553
UniProtKB:Q8JFU3 351
UniProtKB:A0A0R4IEH7 513
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations