EPM2A - EPM2A glucan phosphatase, laforin Gene

Also Known as EPM2; MELF

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7957

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	References	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	References	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	References	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

DSPc

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	References
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04441	EPM2A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09286	NHLRC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	EPM2A	NCBI