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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000618445 EPM2A-202 ENSG00000112425 9606 - 6:145625312-145735855 protein_coding

Expression Patterns

No expression data.

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00030K CIL_00030K_0002 CGP 6:144285701-145736024

Gene Ontology

GO IDEvidence TypeGO Description
GO:0004439 IBA phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0004722 TAS protein serine/threonine phosphatase activity
GO:0004725 IDA protein tyrosine phosphatase activity
GO:0005515 IPI protein binding
GO:0005634 IBA nucleus
GO:0005737 IDA cytoplasm
GO:0005783 IEA endoplasmic reticulum
GO:0005829 IDA cytosol
GO:0005844 IDA polysome
GO:0005886 IEA plasma membrane
GO:0005975 TAS carbohydrate metabolic process
GO:0005977 NAS glycogen metabolic process
GO:0005978 TAS glycogen biosynthetic process
GO:0006006 TAS glucose metabolic process
GO:0006470 IDA:IEA protein dephosphorylation
GO:0006914 IEA autophagy
GO:0008138 IBA:IEA protein tyrosine/serine/threonine phosphatase activity
GO:0016311 IEA dephosphorylation
GO:0016791 IEA phosphatase activity
GO:0019203 EXP carbohydrate phosphatase activity
GO:0030246 IEA carbohydrate binding
GO:0035335 IEA peptidyl-tyrosine dephosphorylation
GO:0044281 TAS small molecule metabolic process
GO:0046855 IBA inositol phosphate dephosphorylation
GO:2001070 IEA starch binding

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000069106 Epm2a-001 protein_coding Mus_musculus 0 1096
ENSMUST00000161438 Epm2a-002 processed_transcript Mus_musculus 8e-16 90

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