EPM2A

GENE INFORMATION

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Gene name

EPM2A (HGNC Symbol)

Synonyms

LD, LDE

Description

Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (HGNC Symbol)

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]

Chromosome

6

Cytoband

q24.3

Chromosome location (bp)

145501583 - 145736024

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000112425 (version 78.38)

Entrez gene

7957

UniProt

O95278 (UniProt - Evidence at protein level)

neXtProt

NX_O95278

Antibodypedia

EPM2A antibodies
 

PROTEIN VIEW

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EPM2A-001
 
EPM2A-002
 
EPM2A-004
 
EPM2A-201
 
EPM2A-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EPM2A-001 ENSP00000414900
ENST00000450221
Show » 170 19.5 No 0
EPM2A-002 ENSP00000356489
ENST00000367519
O95278
Show all »
Show » Show » 331 37.2 No 0
EPM2A-004 ENSP00000405913
ENST00000435470
Show » Show » 237 27.1 No 0
EPM2A-201 ENSP00000480268
ENST00000611340
O95278
Show all »
Show » Show » 193 22.2 No 0
EPM2A-202 ENSP00000480339
ENST00000618445
O95278
Show all »
Show » Show » 317 35.5 No 0