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EPM2A

GENERAL INFORMATION

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 7957

UniProt

 O95278 (UniProt - Evidence at protein level)

neXtProt

 NX_O95278

Antibodypedia

 EPM2A antibodies

PROTEIN BROWSER
EPM2A-001
EPM2A-002
EPM2A-004
EPM2A-201
EPM2A-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
EPM2A-001
ENSP00000414900
ENST00000450221
H0Y7S8 [Direct mapping]
Laforin, isoform 9
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004439 [phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity]
GO:0005634 [nucleus]
GO:0006470 [protein dephosphorylation]
GO:0008138 [protein tyrosine/serine/threonine phosphatase activity]
GO:0046855 [inositol phosphate dephosphorylation]
Show all
 170 aa
19.5 kDa 		No 0
EPM2A-002
ENSP00000356489
ENST00000367519
O95278 [Direct mapping]
Laforin
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
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: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:0005978 [glycogen biosynthetic process]
GO:0006006 [glucose metabolic process]
GO:0006470 [protein dephosphorylation]
GO:0006914 [autophagy]
GO:0007399 [nervous system development]
GO:0008138 [protein tyrosine/serine/threonine phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0019203 [carbohydrate phosphatase activity]
GO:0030246 [carbohydrate binding]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0044281 [small molecule metabolic process]
GO:0046855 [inositol phosphate dephosphorylation]
GO:0046959 [habituation]
GO:2001070 [starch binding]
Show all
 331 aa
37.2 kDa 		No 0
EPM2A-004
ENSP00000405913
ENST00000435470
H0Y6I8 [Direct mapping]
Laforin, isoform 9
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004439 [phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity]
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005634 [nucleus]
GO:0006470 [protein dephosphorylation]
GO:0008138 [protein tyrosine/serine/threonine phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0030246 [carbohydrate binding]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0046855 [inositol phosphate dephosphorylation]
Show all
 237 aa
27.1 kDa 		No 0
EPM2A-201
ENSP00000480268
ENST00000611340
O95278 [Direct mapping]
Laforin
H0UI04 [Target identity:100%; Query identity:100%]
Epilepsy, progressive myoclonus type 2A, Lafora disease (Laforin), isoform CRA_a
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
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: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:0005978 [glycogen biosynthetic process]
GO:0006006 [glucose metabolic process]
GO:0006470 [protein dephosphorylation]
GO:0006914 [autophagy]
GO:0008138 [protein tyrosine/serine/threonine phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0019203 [carbohydrate phosphatase activity]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0044281 [small molecule metabolic process]
GO:0046855 [inositol phosphate dephosphorylation]
GO:2001070 [starch binding]
Show all
 193 aa
22.2 kDa 		No 0
EPM2A-202
ENSP00000480339
ENST00000618445
O95278 [Direct mapping]
Laforin
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
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: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:0005978 [glycogen biosynthetic process]
GO:0006006 [glucose metabolic process]
GO:0006470 [protein dephosphorylation]
GO:0006914 [autophagy]
GO:0008138 [protein tyrosine/serine/threonine phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0019203 [carbohydrate phosphatase activity]
GO:0030246 [carbohydrate binding]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0044281 [small molecule metabolic process]
GO:0046855 [inositol phosphate dephosphorylation]
GO:2001070 [starch binding]
Show all
 317 aa
35.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.