1. Gene
  2. EPM2A - EPM2A glucan phosphatase, laforin Gene

EPM2A - EPM2A glucan phosphatase, laforin Gene

Homo sapiens

Also known as EPM2; MELF

Gene ID: 7957 | Gene type: protein coding

About EPM2A

Cytogenetic location: 6q24.3 Genomic coordinates (GRCh38): 6:145,383,353-145,736,023 (from NCBI)

This gene has 28 transcripts (splice variants), 195 orthologues, 30 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 6.9), kidney (RPKM 4.5) and 24 other tissues.

Summary

This gene encodes a dual-specificity Phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]

EPM2A Products(9)

mRNA Protein Name
NM_001018041.2 NP_001018051.1 laforin isoform b
NM_001360057.2 NP_001346986.1 laforin isoform c
NM_001360064.2 NP_001346993.1 laforin isoform d
NM_001360071.2 NP_001347000.1 laforin isoform d
NM_001368129.2 NP_001355058.1 laforin isoform e
NM_001368130.1 NP_001355059.1 laforin isoform f
NM_001368131.1 NP_001355060.1 laforin isoform d
NM_001368132.1 NP_001355061.1 laforin isoform e
NM_005670.4 NP_005661.1 laforin isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables carbohydrate binding IDA
IDA: Inferred from direct assay
25538239 GOA
enables carbohydrate phosphatase activity EXP
EXP: Inferred from Experiment
16901901 GOA
enables carbohydrate phosphatase activity IDA
IDA: Inferred from direct assay
25538239 GOA
NOT enables glycogen binding IDA
IDA: Inferred from direct assay
18617530 GOA
enables glycogen binding IDA
IDA: Inferred from direct assay
11739371 GOA
NOT enables phosphatase activity IDA
IDA: Inferred from direct assay
18617530 GOA
enables phosphatase activity IDA
IDA: Inferred from direct assay
18617530 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12915448 GOA
enables protein dimerization activity IPI
IPI: Inferred from physical interaction
18617530 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
18617530 GOA
enables protein serine/threonine phosphatase activity IDA
IDA: Inferred from direct assay
12915448 GOA
enables protein tyrosine phosphatase activity IDA
IDA: Inferred from direct assay
11001928 GOA
enables protein tyrosine phosphatase activity IMP
IMP: Inferred from mutant phenotype
11739371 GOA
Biological Process GO Annotation Evidence Reference Source
involved in dephosphorylation IDA
IDA: Inferred from direct assay
18617530 GOA
involved in glycogen metabolic process IMP
IMP: Inferred from mutant phenotype
25538239 GOA
acts upstream of or within negative regulation of TOR signaling IMP
IMP: Inferred from mutant phenotype
20453062 GOA
involved in negative regulation of dephosphorylation IDA
IDA: Inferred from direct assay
18617530 GOA
involved in negative regulation of phosphatase activity IDA
IDA: Inferred from direct assay
18617530 GOA
involved in peptidyl-tyrosine dephosphorylation IMP
IMP: Inferred from mutant phenotype
11739371 GOA
acts upstream of or within positive regulation of macroautophagy IMP
IMP: Inferred from mutant phenotype
20453062 GOA
involved in protein dephosphorylation IDA
IDA: Inferred from direct assay
11001928 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
11739371 GOA
located in cytoplasmic side of rough endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
11001928 GOA
located in cytosol IDA
IDA: Inferred from direct assay
12915448 GOA
located in nucleus IDA
IDA: Inferred from direct assay
18617530 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EPM2A Protein Structure

CBM_20

CBM_20: Starch binding domain (19 - 105)

DSPc

DSPc: Dual specificity phosphatase, catalytic domain (164 - 304)

  • 0
  • 100
  • 200
  • 300
  • 331 a.a.
Protein Preferred Names Protein Names

laforin

EPM2A, laforin glucan phosphatase

EPM2A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
EPM2A O95278 PPP1R3C Homo sapiens Q9UQK1
Y2H
14532330
Intra
EPM2A O95278 PPP1R3C Homo sapiens Q9UQK1
Fluorescence
14532330
Intra
EPM2A O95278 PPP1R3C Homo sapiens Q9UQK1
Pull Down
14532330
Intra
EPM2A O95278 NHLRC1 Homo sapiens Q6VVB1
Y2H
21505799
Intra
EPM2A O95278 NHLRC1 Homo sapiens Q6VVB1
Confocal
21505799
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Myoclonic Epilepsy Of Lafora

Lafora Disease

Epilepsy, Progressive Myoclonic 2b

EPM2

Melf

Epilepsy, Progressive Myoclonic 2a

Epm2a

Lafora'S Disease

Lafora Body Disease

Lbd

Epilepsy, Progressive Myoclonic, 2a

Lafora Progressive Myoclonic Epilepsy

Epilepsy Progressive Myoclonic 2

Lafora Body Disorder

Pme Type 2

Progressive Myoclonic Epilepsy Type 2

Progressive Myoclonus Epilepsy Type 2

Epilepsy, Progressive Myoclonic 2

Epm2b

Ld

Progressive Myoclonic Epilepsy 2

Progressive Myoclonic Epilepsy 2a

Progressive Myoclonic Epilepsy 2b

Progressive Myoclonic Epilepsy Lafora Type

Epilepsy, Myoclonic, Of Lafora

Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome

Myoclonus Epilepsy

Epilepsies, Myoclonic

Myoclonic Epilepsy Of Unverricht And Lundborg

Progressive Myoclonic Epilepsy

Uld

EPM1

Pme

Epm1a

Baltic Myoclonic Epilepsy

Progressive Myoclonic Epilepsy Type 1

Unverricht-Lundborg Disease

Familial Progressive Myoclonic Epilepsy

Epilepsy, Progressive Myoclonic 1

Epilepsy, Progressive Myoclonic, 1a

Epilepsy, Progressive Myoclonic, 1

Myoclonic Epilepsy, Progressive

Epilepsy, Progressive Myoclonic 1a

Progressive Myoclonus Epilepsy Type 1

Progressive Myoclonus Epilepsy

Epilepsy Progressive Myoclonic

Progressive Myoclonic Epilepsy 1

Progressive Myoclonic Epilepsy 1a

Progressive Myoclonic Epilepsy Unverricht-Lundborg Type

Epilepsy, Myoclonic, Progressive

Epilepsy, Myoclonic, Progressive, Type 1a

Unverricht-Lundborg Syndrome

Myoclonic Epilepsies, Progressive

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Myoclonus
Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

Progressive Myoclonus Epilepsy 10

Early-Onset Lafora Body Disease

Epm10

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease

Epm1

Myoclonic Epilepsy Of Unverricht And Lundborg

Myoclonus Progressive Epilepsy Of Unverricht And Lundborg

Unverricht - Lundborg Disease

Unverricht'S Disease

Epilepsy, Progressive Myoclonic Type 1

Epilepsy, Progressive Myoclonus 1

Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy

Baltic Myoclonic Epilepsy

Baltic Myoclonus

Baltic Myoclonus Epilepsy

Lundborg-Unverricht Syndrome

Mediterranean Myoclonic Epilepsy

Pme

Progressive Myoclonic Epilepsy

Progressive Myoclonus Epilepsy 1

Uld

Myoclonic Epilepsies, Progressive

Ovary Transitional Cell Carcinoma

Malignant Ovarian Transitional Cell Neoplasm

Ovarian Transitional Cell Cancer

Ovarian Transitional Cell Neoplasm

Transitional Cell Carcinoma Of Ovary

Ovarian Transitional Cell Carcinoma

Malignant Ovarian Transitional Cell Tumor

Ovarian Transitional Cell Tumor

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Progressive Myoclonus Epilepsy 6

Progressive Myoclonic Epilepsy Type 6

Epm6

Gosr2-Related Progressive Myoclonus Ataxia

North Sea Progressive Myoclonus Epilepsy

Pme Type 6

Progressive Myoclonus Epilepsy Type 6

Epilepsy, Progressive Myoclonic, 6

Arthrogryposis, Distal, Type 2b2

DA2B2

Distal Arthrogryposis Type 2b2

Arthrogryposis, Distal, 2b2

Arthrogryposis, Distal, Type 2b1

Sheldon-Hall Syndrome

Freeman-Sheldon Syndrome Variant

Distal Arthrogryposis Type 2b1

DA2B1

Arthrogryposis Multiplex Congenita, Distal, Type 2b

Shs

Distal Arthrogryposis Type 2b

Fssv

Arthrogryposis Multiplex Congenita Distal Type 2b

Arthrogryposis Multiplex Congenita Distal Type Ii With Craniofacial Abnormalities

Da2b

Arthrogryposis Multiplex Congenita, Distal, Type Ii, With Craniofacial Abnormalities

Distal Arthrogryposis Type Iib

Freeman Sheldon Syndrome, Variant

Freeman Sheldon Variant

Arthrogryposis, Distal, 2b1

Amcd2b

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Progressive Myoclonus Epilepsy 4

Action Myoclonus-Renal Failure Syndrome

Amrf

Epm4

Myoclonus-Nephropathy Syndrome

Neonatal Period Electroclinical Syndrome
Glycoproteinosis

Sialidosis

Mucolipidosis Type I

Mucolipidoses

Cherry Red Spot Myoclonus Syndrome

Mucolipidosis I

Myoclonus Cherry Red Spot Syndrome

Type I Mucolipidosis

Lipomucopolysaccharidosis

Disorders Of Glycoprotein Metabolism

Glycoprotein Storage Disorder

Glycogen Storage Disease Iv

Gsd Iv

Glycogen Branching Enzyme Deficiency

Andersen Disease

Amylopectinosis

Glycogen Storage Disease Type Iv

GSD4

Brancher Deficiency

Glycogen Storage Disease, Type Iv

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Gbe1 Deficiency

Glycogenosis Iv

Cirrhosis, Familial, With Deposition Of Abnormal Glycogen

Glycogen Storage Disease Type 4

Glycogenosis 4

Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features

Andersen'S Disease

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Brancher Deficiency Glycogenosis

Branching-Transferase Deficiency Glycogenosis

Deficiency Of 1,4-Alpha-Glucan Branching Enzyme

Andersen-Tawil Syndrome

Gsd 4

Andersen Cardiodysrhythmic Periodic Paralysis

Lqt7

Long Qt Syndrome 7

Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

Andersen Glycogenosis

Branching Enzyme Deficiency

Glycogenosis, Type Iv

Gsd Type Iv

Type Iv Glycogenosis

Gbe Deficiency, Childhood Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Gsd Type 4, Childhood Neuromuscular Form

Gsdiv, Childhood Neuromuscular Form

Glycogen Storage Disease Type 4, Childhood Neuromuscular Form

Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Glycogenosis Type 4, Childhood Neuromuscular Form

Glycogenosis Type Iv, Childhood Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Gbe Deficiency, Adult Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Gsd Type 4, Adult Neuromuscular Form

Gsdiv, Adult Neuromuscular Form

Glycogen Storage Disease Type 4, Adult Neuromuscular Form

Glycogen Storage Disease Type Iv, Adult Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Glycogenosis Type 4, Adult Neuromuscular Form

Glycogenosis Type Iv, Adult Neuromuscular Form

Gbe Deficiency, Congenital Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Gsd Type 4, Congenital Neuromuscular Form

Gsdiv, Congenital Neuromuscular Form

Glycogen Storage Disease Type 4, Congenital Neuromuscular Form

Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Glycogenosis Type 4, Congenital Neuromuscular Form

Glycogenosis Type Iv, Congenital Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Gsd Type 4, Childhood Combined Hepatic And Myopathic Form

Gsdiv, Childhood Combined Hepatic And Myopathic Form

Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form

Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form

Gbe Deficiency, Fatal Perinatal Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Gsd Type 4, Fatal Perinatal Neuromuscular Form

Gsdiv, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form

Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Gbe Deficiency, Non Progressive Hepatic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Gsd Type 4, Non Progressive Hepatic Form

Gsdiv, Non Progressive Hepatic Form

Glycogen Storage Disease Type 4, Non Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Glycogenosis Type 4, Non Progressive Hepatic Form

Glycogenosis Type Iv, Non Progressive Hepatic Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Gbe Deficiency, Progressive Hepatic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Gsd Type 4, Progressive Hepatic Form

Gsdiv, Progressive Hepatic Form

Glycogen Storage Disease Type 4, Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Progressive Hepatic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Glycogenosis Type 4, Progressive Hepatic Form

Glycogenosis Type Iv, Progressive Hepatic Form

Glycogen Storage Disease 4

Gsd-Iv

Storage Disease, Glycogen, Type Iv

Endometrial Adenocarcinoma

Endometrial Endometrioid Adenocarcinoma

Endometrial Adenoacanthoma

Endometrial Endometrioid Adenocarcinoma, Variant With Squamous Differentiation

Adenocarcinoma Of Endometrium

Adenocarcinoma Of The Endometrium

Adenocarcinoma Of Uterus

Endometrial Endometrioid Adenocarcinoma With Squamous Differentiation

Endometrioid Adenoma Or Carcinoma

Endometrioid Adenomas And Carcinomas

Endometrioid Carcinoma Of Endometrium

Endometrium Adenocarcinoma

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus EPM2A MGD MGI:1341085
Bos taurus EPM2A VGNC VGNC:53790
Canis familiaris EPM2A VGNC VGNC:53700
Rattus norvegicus EPM2A RGD RGD:71047