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
ENSG00000112425 EPM2A 9606 - 6:145501583-145736024 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000367519 EPM2A-002 145625305-145736024 protein_coding
  ENST00000435470 EPM2A-004 145625371-145735257 protein_coding
  ENST00000450221 EPM2A-001 145501583-145686296 protein_coding
  ENST00000461700 EPM2A-003 145671305-145686922 processed_transcript
  ENST00000489412 EPM2A-006 145635085-145671359 processed_transcript
  ENST00000496228 EPM2A-005 145633719-145686877 processed_transcript
  ENST00000611340 EPM2A-201 145625312-145721742 protein_coding
  ENST00000618445 EPM2A-202 145625312-145735855 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000367519ENST00000435470ENST00000611340
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000367519 0.806±0.00 1.366±0.00 N/A 2.519±1.78 3.285±2.47 2.103±1.37 4.365±1.62 1.536±0.00 2.415±1.06 0.650±0.00 10.386±6.29 1.923±1.42 0.566±0.50 2.046±0.05
ENST00000435470 N/A N/A 0.604±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000611340 N/A 0.512±0.00 0.660±0.00 0.919±0.00 0.376±0.00 0.326±0.00 N/A N/A N/A 0.888±0.00 1.106±0.00 0.367±0.23 N/A N/A

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:0007399 IEA nervous system development
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:0046959 IEA 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
ENSMUSG00000055493 Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha protein_coding Mus_musculus

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