Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MUSK (muscle, skeletal, receptor tyrosine kinase)

Identity

Other names-
HGNC (Hugo) MUSK
LocusID (NCBI) 4593
Location 9q31.3
Location_base_pair Starts at 113431051 and ends at 113563278 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)MUSK   7525
Cards
Entrez_Gene (NCBI)MUSK  4593  muscle, skeletal, receptor tyrosine kinase
GeneCards (Weizmann)MUSK
Ensembl hg19 (Hinxton)ENSG00000030304 [Gene_View]  chr9:113431051-113563278 [Contig_View]  MUSK [Vega]
Ensembl hg38 (Hinxton)ENSG00000030304 [Gene_View]  chr9:113431051-113563278 [Contig_View]  MUSK [Vega]
ICGC DataPortalENSG00000030304
cBioPortalMUSK
AceView (NCBI)MUSK
Genatlas (Paris)MUSK
WikiGenes4593
SOURCE (Princeton)MUSK
Genomic and cartography
GoldenPath hg19 (UCSC)MUSK  -     chr9:113431051-113563278 +  9q31.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MUSK  -     9q31.3   [Description]    (hg38-Dec_2013)
EnsemblMUSK - 9q31.3 [CytoView hg19]  MUSK - 9q31.3 [CytoView hg38]
Mapping of homologs : NCBIMUSK [Mapview hg19]  MUSK [Mapview hg38]
OMIM601296   608931   
Gene and transcription
Genbank (Entrez)AA448972 AF006464 BC109098 BC109099 BG825304
RefSeq transcript (Entrez)NM_001166280 NM_001166281 NM_005592
RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NG_016016 NT_008470 NW_001839236 NW_004929366
Consensus coding sequences : CCDS (NCBI)MUSK
Cluster EST : UnigeneHs.521653 [ NCBI ]
CGAP (NCI)Hs.521653
Alternative Splicing : Fast-db (Paris)GSHG0030359
Alternative Splicing GalleryENSG00000030304
Gene ExpressionMUSK [ NCBI-GEO ]     MUSK [ SEEK ]   MUSK [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15146 (Uniprot)
NextProtO15146  [Medical]
With graphics : InterProO15146
Splice isoforms : SwissVarO15146 (Swissvar)
Catalytic activity : Enzyme2.7.10.1 [ Enzyme-Expasy ]   2.7.10.12.7.10.1 [ IntEnz-EBI ]   2.7.10.1 [ BRENDA ]   2.7.10.1 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)FZ (PS50038)    IG_LIKE (PS50835)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)   
Domains : Interpro (EBI)Frizzled_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub2    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser-Thr/Tyr_kinase_cat_dom    Tyr_kinase_AS    Tyr_kinase_cat_dom   
Related proteins : CluSTrO15146
Domain families : Pfam (Sanger)Fz (PF01392)    I-set (PF07679)    Pkinase_Tyr (PF07714)   
Domain families : Pfam (NCBI)pfam01392    pfam07679    pfam07714   
Domain families : Smart (EMBL)IGc2 (SM00408)  TyrKc (SM00219)  
DMDM Disease mutations4593
Blocks (Seattle)O15146
Human Protein AtlasENSG00000030304
Peptide AtlasO15146
HPRD03190
IPIIPI00655599   IPI00915471   IPI00640270   IPI01014838   IPI00289243   IPI00514895   IPI00478800   
Protein Interaction databases
DIP (DOE-UCLA)O15146
IntAct (EBI)O15146
FunCoupENSG00000030304
BioGRIDMUSK
IntegromeDBMUSK
STRING (EMBL)MUSK
Ontologies - Pathways
QuickGOO15146
Ontology : AmiGOpositive regulation of protein phosphorylation  protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  protein binding  ATP binding  integral component of plasma membrane  regulation of transcription, DNA-templated  transmembrane receptor protein tyrosine kinase signaling pathway  multicellular organismal development  neuromuscular junction development  memory  regulation of synaptic growth at neuromuscular junction  positive regulation of gene expression  peptidyl-tyrosine phosphorylation  peptidyl-tyrosine phosphorylation  cell junction  cell differentiation  extracellular matrix organization  neuromuscular junction  receptor complex  positive regulation of neuron apoptotic process  postsynaptic membrane  protein autophosphorylation  skeletal muscle acetylcholine-gated channel clustering  positive regulation of protein geranylgeranylation  
Ontology : EGO-EBIpositive regulation of protein phosphorylation  protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  protein binding  ATP binding  integral component of plasma membrane  regulation of transcription, DNA-templated  transmembrane receptor protein tyrosine kinase signaling pathway  multicellular organismal development  neuromuscular junction development  memory  regulation of synaptic growth at neuromuscular junction  positive regulation of gene expression  peptidyl-tyrosine phosphorylation  peptidyl-tyrosine phosphorylation  cell junction  cell differentiation  extracellular matrix organization  neuromuscular junction  receptor complex  positive regulation of neuron apoptotic process  postsynaptic membrane  protein autophosphorylation  skeletal muscle acetylcholine-gated channel clustering  positive regulation of protein geranylgeranylation  
Pathways : BIOCARTAAgrin in Postsynaptic Differentiation [Genes]    Role of nicotinic acetylcholine receptors in the regulation of apoptosis [Genes]   
Protein Interaction DatabaseMUSK
DoCM (Curated mutations)MUSK
Wikipedia pathwaysMUSK
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMUSK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MUSK
dbVarMUSK
ClinVarMUSK
1000_GenomesMUSK 
Exome Variant ServerMUSK
SNP (GeneSNP Utah)MUSK
SNP : HGBaseMUSK
Genetic variants : HAPMAPMUSK
Genomic VariantsMUSK  MUSK [DGVbeta]
Mutations
ICGC Data PortalENSG00000030304 
Somatic Mutations in Cancer : COSMICMUSK 
CONAN: Copy Number AnalysisMUSK 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:113431051-113563278
Mutations and Diseases : HGMDMUSK
OMIM601296    608931   
MedgenMUSK
NextProtO15146 [Medical]
GENETestsMUSK
Disease Genetic AssociationMUSK
Huge Navigator MUSK [HugePedia]  MUSK [HugeCancerGEM]
snp3D : Map Gene to Disease4593
DGIdb (Drug Gene Interaction db)MUSK
General knowledge
Homologs : HomoloGeneMUSK
Homology/Alignments : Family Browser (UCSC)MUSK
Phylogenetic Trees/Animal Genes : TreeFamMUSK
Chemical/Protein Interactions : CTD4593
Chemical/Pharm GKB GenePA31326
Clinical trialMUSK
Cancer Resource (Charite)ENSG00000030304
Other databases
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
CoreMineMUSK
GoPubMedMUSK
iHOPMUSK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:21:23 CET 2014
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