EPM2A

GENERAL INFORMATION

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Gene name

EPM2A

Gene description

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

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in salivary gland and a subset of leukocytes. Additional secreted positivity in cerebral cortex and expression lateral ventricle neuropil.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA053643 , HPA055468
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Salivary gland

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000367519
 
ENST00000435470
 
ENST00000450221
 
ENST00000611340
 
ENST00000618445
 
 
 
 


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