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Gene basic information

LiverAtlas Gene ID

HuLG005349

Entrez Gene ID

7957

Official Gene Symbol

EPM2A

Synonyms

EPM2|MELF

Gene name

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

Gene Type

protein-coding

Chromosome

6

Genomics Location

6q24

Known cancer genes

Yes

Protein products

Epilepsy, progressive myoclonus type 2A, Lafora disease (Laforin), isoform CRA a

Laforin

Epilepsy, progressive myoclonus type 2A, Lafora disease (Laforin)

Database cross reference

HGNC:3413
MIM:607566
Ensembl:ENSG00000112425
HPRD:06345
RefSeq Genomic nucleotide accession:AC_000049
RefSeq Genomic nucleotide gi:89161209

 

Ontology annotation

GO ID

GO annotation

GO:0004722

protein serine/threonine phosphatase activity

GO:0004725

protein tyrosine phosphatase activity

GO:0005515

protein binding

GO:0005634

nucleus

GO:0005737

cytoplasm

GO:0005783

endoplasmic reticulum

GO:0005829

cytosol

GO:0005844

polysome

GO:0005886

plasma membrane

GO:0005975

carbohydrate metabolic process

GO:0005977

glycogen metabolic process

GO:0006470

protein dephosphorylation

GO:0007399

nervous system development

GO:0007610

behavior

GO:0008138

protein tyrosine/serine/threonine phosphatase activity

GO:0016787

hydrolase activity

GO:0030246

carbohydrate binding

GO:0035335

peptidyl-tyrosine dephosphorylation

GO:0042802

identical protein binding