C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: muscle, skeletal, receptor tyrosine kinase
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000030304 MUSK 9606 + 9:110668771-110801579 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000189978 MUSK-201 110668771-110800998 protein_coding
  ENST00000374438 MUSK-004 110775347-110788101 protein_coding
  ENST00000374439 MUSK-003 110687217-110706188 protein_coding
  ENST00000374440 MUSK-202 110668859-110800998 protein_coding
  ENST00000374448 MUSK-001 110668771-110800998 protein_coding
  ENST00000416899 MUSK-002 110668779-110801579 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeBladderBrainBreastColonHeartLiverLungMuscleOvaryPlacentaTestisENST00000189978ENST00000374438ENST00000374439ENST00000374440ENST00000374448ENST00000416899
Transcript ID Adipose Bladder Brain Breast Colon Heart Liver Lung Muscle Ovary Placenta Testis
ENST00000189978 N/A N/A N/A 0.022±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000374438 N/A N/A 0.179±0.00 N/A N/A N/A N/A N/A N/A 0.019±0.00 0.090±0.00 N/A
ENST00000374439 N/A N/A N/A N/A N/A N/A 0.837±0.00 2.106±0.00 N/A 0.070±0.00 0.088±0.00 N/A
ENST00000374440 0.019±0.00 0.022±0.00 0.030±0.00 0.103±0.09 N/A 0.105±0.00 0.028±0.00 N/A N/A 0.043±0.03 0.116±0.06 N/A
ENST00000374448 N/A N/A N/A N/A 0.271±0.00 N/A N/A 0.373±0.00 0.131±0.00 N/A N/A N/A
ENST00000416899 N/A N/A N/A 0.302±0.00 0.774±0.00 0.268±0.00 0.192±0.00 0.141±0.00 0.205±0.16 N/A 0.052±0.00 0.459±0.02

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00016G CIL_00016G_0001 CGP 9:110365251-110801579
CIL_00016H CIL_00016H_0001 CGP 9:110668771-111038458

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001934 ISS positive regulation of protein phosphorylation
GO:0004672 IEA protein kinase activity
GO:0004713 ISS:IEA protein tyrosine kinase activity
GO:0004714 IEA transmembrane receptor protein tyrosine kinase activity
GO:0005515 IPI:IEA protein binding
GO:0005524 IEA ATP binding
GO:0005886 IEA plasma membrane
GO:0005887 ISS integral component of plasma membrane
GO:0006355 IEA regulation of transcription, DNA-templated
GO:0006468 IEA protein phosphorylation
GO:0007169 TAS transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007275 IEA multicellular organismal development
GO:0007528 ISS neuromuscular junction development
GO:0007613 ISS memory
GO:0008582 ISS regulation of synaptic growth at neuromuscular junction
GO:0010628 ISS positive regulation of gene expression
GO:0016772 IEA transferase activity, transferring phosphorus-containing groups
GO:0018108 IEA peptidyl-tyrosine phosphorylation
GO:0030054 IEA cell junction
GO:0030154 IEA cell differentiation
GO:0030198 TAS extracellular matrix organization
GO:0031594 ISS neuromuscular junction
GO:0043113 IEA receptor clustering
GO:0043235 IDA receptor complex
GO:0043525 IEA positive regulation of neuron apoptotic process
GO:0045211 ISS postsynaptic membrane
GO:0046777 ISS protein autophosphorylation
GO:0071340 ISS skeletal muscle acetylcholine-gated channel clustering
GO:2000541 ISS positive regulation of protein geranylgeranylation

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000000102 musk muscle, skeletal, receptor tyrosine kinase protein_coding Danio_rerio
ENSMUSG00000057280 Musk muscle, skeletal, receptor tyrosine kinase protein_coding Mus_musculus

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