EPM2A (EPM2A glucan phosphatase, laforin)

2007-02-01 Affiliation

Identity

HGNC

EPM2A

LOCATION

6q24.3

LOCUSID

7957

ALIAS

EPM2,MELF

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7957
MIM: 607566
HGNC: 3413
Ensembl: ENSG00000112425

Variants:

dbSNP: 7957
ClinVar: 7957
TCGA: ENSG00000112425
COSMIC: EPM2A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000112425	ENST00000367519	O95278
ENSG00000112425	ENST00000435470	O95278
ENSG00000112425	ENST00000450221	H0Y7S8
ENSG00000112425	ENST00000611340	O95278
ENSG00000112425	ENST00000611340	H0UI04
ENSG00000112425	ENST00000618445	O95278
ENSG00000112425	ENST00000638262	O95278
ENSG00000112425	ENST00000638554	A0A1W2PRS5
ENSG00000112425	ENST00000638717	A0A1W2PPT8
ENSG00000112425	ENST00000638778	O95278
ENSG00000112425	ENST00000638778	H0UI04
ENSG00000112425	ENST00000638783	O95278
ENSG00000112425	ENST00000638783	H0UI04
ENSG00000112425	ENST00000639049	A0A1W2PQ84
ENSG00000112425	ENST00000639423	O95278
ENSG00000112425	ENST00000639423	H0UI04
ENSG00000112425	ENST00000639465	O95278
ENSG00000112425	ENST00000639465	H0UI04
ENSG00000112425	ENST00000639849	A0A1W2PRC9
ENSG00000112425	ENST00000640225	A0A1W2PRC9
ENSG00000112425	ENST00000640351	A0A1W2PP62
ENSG00000112425	ENST00000640980	A0A1W2PPJ6
ENSG00000112425	ENST00000650914	O95278
ENSG00000112425	ENST00000650914	H0UI04

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Diseases of metabolism	REACTOME	R-HSA-5668914
Diseases of carbohydrate metabolism	REACTOME	R-HSA-5663084
Glycogen storage diseases	REACTOME	R-HSA-3229121
Myoclonic epilepsy of Lafora	REACTOME	R-HSA-3785653
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glucose metabolism	REACTOME	R-HSA-70326
Glycogen synthesis	REACTOME	R-HSA-3322077

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA447216	Schizophrenia	Disease	ClinicalAnnotation	associated	PD	27092952
PA448964	chlorpromazine	Chemical	ClinicalAnnotation	associated	PD	27092952
PA449061	clozapine	Chemical	ClinicalAnnotation	associated	PD	27092952
PA449841	haloperidol	Chemical	ClinicalAnnotation	associated	PD	27092952
PA450688	olanzapine	Chemical	ClinicalAnnotation	associated	PD	27092952
PA451201	quetiapine	Chemical	ClinicalAnnotation	associated	PD	27092952
PA451257	risperidone	Chemical	ClinicalAnnotation	associated	PD	27092952
PA451771	trifluoperazine	Chemical	ClinicalAnnotation	associated	PD	27092952

References

Pubmed ID	Year	Title	Citations
34147889	2021	EPM2A in-frame deletion slows neurological decline in Lafora Disease.	2
34147889	2021	EPM2A in-frame deletion slows neurological decline in Lafora Disease.	2
31758957	2020	Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease.	15
31758957	2020	Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease.	15
26578817	2016	Biophysical characterization of laforin-carbohydrate interaction.	5
27092952	2016	PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-Control and Pharmacogenetics Study.	4
26578817	2016	Biophysical characterization of laforin-carbohydrate interaction.	5
27092952	2016	PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-Control and Pharmacogenetics Study.	4
25538239	2015	Dimeric quaternary structure of human laforin.	7
25544560	2015	Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.	32
26102034	2015	Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway.	4
26216881	2015	Muscle glycogen remodeling and glycogen phosphate metabolism following exhaustive exercise of wild type and laforin knockout mice.	18
26648032	2015	Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease.	3
25538239	2015	Dimeric quaternary structure of human laforin.	7
25544560	2015	Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.	32

Citation

Dessen P

EPM2A (EPM2A glucan phosphatase, laforin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43825/js/lib/favicon/css/template-nav.css