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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: dystrophia myotonica-protein kinase
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000104936 DMPK 9606 - 19:45769717-45782552 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000291270 DMPK-004 45769717-45782478 protein_coding
  ENST00000343373 DMPK-008 45769725-45780603 protein_coding
  ENST00000354227 DMPK-003 45770381-45782489 protein_coding
  ENST00000447742 DMPK-001 45769736-45782479 protein_coding
  ENST00000458663 DMPK-005 45769847-45782388 protein_coding
  ENST00000588522 DMPK-002 45769717-45782552 nonsense_mediated_decay
  ENST00000593574 DMPK-019 45770510-45777447 protein_coding
  ENST00000595361 DMPK-017 45774948-45777037 processed_transcript
  ENST00000596067 DMPK-012 45778635-45780541 protein_coding
  ENST00000596686 DMPK-010 45769720-45779619 retained_intron
  ENST00000596920 DMPK-014 45777770-45779168 processed_transcript
  ENST00000597660 DMPK-020 45770922-45772712 protein_coding
  ENST00000598180 DMPK-009 45778547-45780506 retained_intron
  ENST00000598191 DMPK-015 45777694-45778950 retained_intron
  ENST00000598272 DMPK-011 45769956-45771365 retained_intron
  ENST00000599002 DMPK-016 45777566-45777954 retained_intron
  ENST00000599392 DMPK-013 45778903-45779569 retained_intron
  ENST00000600370 DMPK-018 45771533-45775268 retained_intron
  ENST00000600757 DMPK-007 45769720-45780747 protein_coding
  ENST00000618091 DMPK-201 45769847-45782388 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000291270ENST00000354227ENST00000447742ENST00000596686ENST00000598180ENST00000598191ENST00000600757ENST00000618091
Transcript ID Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000291270 20.019±0.00 N/A 7.956±0.00 15.449±0.00 29.123±27.46 23.969±19.50 9.761±0.00 5.532±0.00 2.273±0.00 16.615±5.11 41.799±0.00 15.607±2.28 25.689±0.00
ENST00000354227 N/A N/A N/A N/A 1.778±0.00 N/A N/A 4.478±0.00 N/A N/A N/A N/A N/A
ENST00000447742 N/A N/A N/A N/A N/A N/A N/A 4.937±0.00 14.750±0.00 N/A N/A N/A N/A
ENST00000596686 N/A N/A N/A 2.811±0.00 N/A N/A N/A N/A N/A N/A 1.338±0.00 N/A N/A
ENST00000598180 N/A N/A N/A N/A N/A N/A 0.830±0.00 N/A N/A N/A N/A N/A N/A
ENST00000598191 N/A N/A N/A N/A N/A 5.400±0.00 N/A N/A N/A N/A N/A N/A N/A
ENST00000600757 N/A 1.051±0.00 N/A N/A N/A N/A N/A N/A N/A N/A 4.568±0.00 N/A N/A
ENST00000618091 26.642±0.00 N/A 9.473±0.00 13.566±0.00 56.417±0.00 50.592±0.00 9.433±0.00 N/A 20.540±0.00 26.558±0.00 7.738±0.00 14.343±0.00 32.104±0.00

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0002028 IEA regulation of sodium ion transport
GO:0004672 IEA protein kinase activity
GO:0004674 IDA:IEA protein serine/threonine kinase activity
GO:0004713 IEA protein tyrosine kinase activity
GO:0005515 IPI protein binding
GO:0005524 IDA:IEA ATP binding
GO:0005789 ISS endoplasmic reticulum membrane
GO:0005829 ISS cytosol
GO:0005886 ISS plasma membrane
GO:0006468 IDA:IEA protein phosphorylation
GO:0006874 ISS cellular calcium ion homeostasis
GO:0006998 IMP nuclear envelope organization
GO:0008016 IDA regulation of heart contraction
GO:0010657 IDA muscle cell apoptotic process
GO:0010830 ISS regulation of myotube differentiation
GO:0014722 IEA regulation of skeletal muscle contraction by calcium ion signaling
GO:0014853 IEA regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction
GO:0016772 IEA transferase activity, transferring phosphorus-containing groups
GO:0017020 IDA myosin phosphatase regulator activity
GO:0031072 IEA heat shock protein binding
GO:0031307 IDA integral component of mitochondrial outer membrane
GO:0031965 ISS nuclear membrane
GO:0033017 ISS sarcoplasmic reticulum membrane
GO:0046872 IEA metal ion binding
GO:0050790 IDA regulation of catalytic activity
GO:0051823 IEA regulation of synapse structural plasticity

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000074914 DMPK dystrophia myotonica-protein kinase protein_coding Danio_rerio
ENSMUSG00000030409 Dmpk dystrophia myotonica-protein kinase protein_coding Mus_musculus

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