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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSDARG00000059044 epm2a 7955 - 23:1549226-1579713 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSDART00000136436 epm2a-001 1549226-1579713 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartKidneyMuscleENSDART00000136436
Transcript ID Brain Heart Kidney Muscle
ENSDART00000136436 0.951±0.45 0.757±0.55 0.241±0.00 3.371±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00030K CIL_00030K_0001 CGP 23:1384085-1579713

Gene Ontology

GO IDEvidence TypeGO Description
GO:0004725 IEA protein tyrosine phosphatase activity
GO:0006470 IEA protein dephosphorylation
GO:0008138 IEA protein tyrosine/serine/threonine phosphatase activity
GO:0016311 IEA dephosphorylation
GO:0016787 IEA hydrolase activity
GO:0016791 IEA phosphatase activity
GO:0030246 IEA carbohydrate binding
GO:2001070 IEA starch binding

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSG00000112425 EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) protein_coding Homo_sapiens
ENSMUSG00000055493 Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha protein_coding Mus_musculus

Loading