InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: EPM2A

Summary

InnateDB Gene

IDBG-97515.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EPM2A

Gene Name

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

Synonyms

EPM2; MELF

Species

Homo sapiens

Ensembl Gene

ENSG00000112425

Encoded Proteins

IDBP-97517

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

IDBP-387664

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

IDBP-387666

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

IDBP-807053

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

IDBP-807059

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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 6:145501583-145736024

Strand

Reverse strand

Band

q24.3

Transcripts

ENST00000367519	ENSP00000356489
ENST00000450221	ENSP00000414900
ENST00000435470	ENSP00000405913
ENST00000496228
ENST00000489412
ENST00000461700
ENST00000618445	ENSP00000480339
ENST00000611340	ENSP00000480268

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	24 [view]
Protein-Protein	22 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0004722	protein serine/threonine phosphatase activity
GO:0004725	protein tyrosine phosphatase activity
GO:0005515	protein binding
GO:0008138	protein tyrosine/serine/threonine phosphatase activity
GO:0016791	phosphatase activity
GO:0019203	carbohydrate phosphatase activity
GO:0030246	carbohydrate binding
GO:2001070	starch binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0005977	glycogen metabolic process
GO:0005978	glycogen biosynthetic process
GO:0006006	glucose metabolic process
GO:0006470	protein dephosphorylation
GO:0006914	autophagy
GO:0007399	nervous system development
GO:0016311	dephosphorylation
GO:0035335	peptidyl-tyrosine dephosphorylation
GO:0044281	small molecule metabolic process
GO:0046855	inositol phosphate dephosphorylation
GO:0046959	habituation

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005783	endoplasmic reticulum
GO:0005829	cytosol
GO:0005844	polysome
GO:0005886	plasma membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000055493

View Gene Order

ENSBTAG00000015181

Not yet available

Pathways

NETPATH

REACTOME

REACT_200783

Myoclonic epilepsy of Lafora pathway

REACT_169208

Glycogen synthesis pathway

REACT_474

Metabolism of carbohydrates pathway

REACT_111217

Metabolism pathway

REACT_116125

Disease pathway

REACT_723

Glucose metabolism pathway

REACT_200833

Glycogen storage diseases pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.708565

RefSeq

NM_001018041 NM_005670

HUGO

OMIM

CCDS

CCDS5206

HPRD

06345

IMGT

EMBL

GenPept

RNA Seq Atlas