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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000055493 Epm2a 10090 + 10:11343404-11459644 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000069106 Epm2a-001 11343404-11459644 protein_coding
  ENSMUST00000161438 Epm2a-002 11343453-11448698 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000069106ENSMUST00000161438
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000069106 4.616±0.64 4.724±0.66 3.147±0.05 2.426±0.87 4.194±1.67 0.762±0.18 7.387±0.30 4.054±0.26 1.120±0.86 3.975±0.33 28.744±1.69 3.370±1.13 0.706±0.41 0.861±0.53
ENSMUST00000161438 5.620±0.00 23.315±16.86 N/A N/A 6.817±0.29 1.544±0.76 N/A 5.164±0.05 1.744±0.53 5.663±1.52 N/A 7.267±2.15 N/A N/A

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0004439 IBA phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0004725 IDA protein tyrosine phosphatase activity
GO:0005515 IPI protein binding
GO:0005634 IDA nucleus
GO:0005737 ISS cytoplasm
GO:0005783 IEA endoplasmic reticulum
GO:0005829 ISA cytosol
GO:0005844 IEA polysome
GO:0005977 IEA glycogen metabolic process
GO:0006914 IEA autophagy
GO:0007399 IMP nervous system development
GO:0008138 IBA protein tyrosine/serine/threonine phosphatase activity
GO:0019203 IEA carbohydrate phosphatase activity
GO:0035335 IEA peptidyl-tyrosine dephosphorylation
GO:0046855 IBA inositol phosphate dephosphorylation
GO:0046959 IMP habituation
GO:2001070 IEA starch binding

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000059044 epm2a epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) protein_coding Danio_rerio
ENSG00000112425 EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) protein_coding Homo_sapiens

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