Epm2a MGI Mouse Gene Detail - MGI:1341085 - epilepsy, progressive myoclonic epilepsy, type 2 gene alpha

Symbol

Epm2a
Name

epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
Synonyms

laforin

Feature Type

protein coding gene
IDs

MGI:1341085
NCBI Gene: 13853
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr10:11219148-11335388 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 3.66 cM, cytoband A
Mapping Data

1 experiment

SNPs within 2kb

3678 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1341085	protein coding gene	Chr10:11218435-11335408 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017014	protein coding gene	Chr10:8716463-8833107 (+)
A/J	MGP_AJ_G0016992	protein coding gene	Chr10:8321840-8434746 (+)
AKR/J	MGP_AKRJ_G0016956	protein coding gene	Chr10:8528431-8653150 (+)
BALB/cJ	MGP_BALBcJ_G0016950	protein coding gene	Chr10:8337510-8457572 (+)
C3H/HeJ	MGP_C3HHeJ_G0016775	protein coding gene	Chr10:8691805-8810510 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017412	protein coding gene	Chr10:8926429-9049101 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015117	protein coding gene	Chr10:7721504-7827388 (+)
CAST/EiJ	MGP_CASTEiJ_G0016357	protein coding gene	Chr10:8556862-8678459 (+)
CBA/J	MGP_CBAJ_G0016747	protein coding gene	Chr10:9228029-9372998 (+)
DBA/2J	MGP_DBA2J_G0016855	protein coding gene	Chr10:8238674-8356114 (+)
FVB/NJ	MGP_FVBNJ_G0016850	protein coding gene	Chr10:8144170-8254582 (+)
LP/J	MGP_LPJ_G0016930	protein coding gene	Chr10:8511110-8636844 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016880	protein coding gene	Chr10:9181416-9304872 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017450	protein coding gene	Chr10:8468505-8580289 (+)
PWK/PhJ	MGP_PWKPhJ_G0016142	protein coding gene	Chr10:8162131-8277440 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015925	protein coding gene	Chr10:8517583-8641981 (+)
WSB/EiJ	MGP_WSBEiJ_G0016419	protein coding gene	Chr10:8488239-8611815 (+)

Human Ortholog

EPM2A, EPM2A glucan phosphatase, laforin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EPM2A, EPM2A glucan phosphatase, laforin
Synonyms

EPM2, MELF, MELF2
Links

HGNC:3413

NCBI Gene ID: 7957

neXtProt AC: NX_O95278

UniProt: B3EWF7, O95278
Chr Location

6q24.3; chr6:145382535-145736023 (-) GRCh38

MGI Vertebrate Homology

Epm2a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EPM2A
Gene Tree

Epm2a

Diseases

1 with Epm2a mouse models; 1 with human EPM2A associations

Human Disease

Mouse Models

Lafora disease

IDs

View 1 model

progressive myoclonus epilepsy

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

3 with disease annotations

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Phenotype Summary

35 phenotypes from 1 allele in 2 genetic backgrounds
11 phenotypes from multigenic genotypes
61 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Endonuclease-mediated

3
Gene trapped

4
Targeted

4
Transgenic

1
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

28 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a targeted null mutation exhibit behavioral deficits, ataxia, myoclonus epilepsy, and widespread degeneration of neurons in the presence of only a few small Lafora inclusions, providing a putative mouse model of human Lafora disease.

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All GO Annotations

103
GO References

33

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

725
Tissues

15
cDNA Data

8
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase epm2a

ZFIN epm2a

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All Sequences

35
RefSeq

4
UniProt

1
CCDS

CCDS23698.1

Ensembl

ENSMUSG00000055493 (Evidence)
NCBI Gene

13853

			Length	Strain/Species	Flank
genomic	ENSMUSG00000055493	Ensembl Gene Model \| MGI Sequence Detail	116241	C57BL/6J	± kb
transcript	ENSMUST00000069106	Ensembl \| MGI Sequence Detail	3287	Not Applicable
polypeptide	ENSMUSP00000066050	Ensembl \| MGI Sequence Detail	330	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000007136 laforin

(term hierarchy)
EC

3.1.3.-, 3.1.3.16, 3.1.3.48
InterPro Domains

IPR013784 Carbohydrate-binding-like fold

IPR002044 Carbohydrate binding module family 20

IPR000340 Dual specificity phosphatase, catalytic domain

IPR020422 Dual specificity protein phosphatase domain

IPR013783 Immunoglobulin-like fold

IPR042942 Laforin

IPR034831 Laforin, CBM20 domain

IPR045204 Laforin-like, dual specificity phosphatase domain

IPR016130 Protein-tyrosine phosphatase, active site

IPR029021 Protein-tyrosine phosphatase-like

IPR000387 Tyrosine-specific protein phosphatases domain

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All nucleic 9

Genomic 1

cDNA 8

Microarray probesets 4

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MGI:3764831

Summaries

All 95

Developmental Gene Expression 1

Diseases 3

Gene Ontology 33

Phenotypes 61
Earliest

J:107545 Geiger T, et al., T-cell responsiveness to an oncogenic peripheral protein and spontaneous autoimmunity in transgenic mice. Proc Natl Acad Sci U S A. 1992 Apr 1;89(7):2985-9
Latest

J:348085 Skurat AV, et al., Impaired malin expression and interaction with partner proteins in Lafora disease. J Biol Chem. 2024 Apr 7;300(5):107271

TSS for Epm2a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr92362	Chr10:11219131-11219250 (+)	43 bp
Tssr92363	Chr10:11231867-11231872 (+)	12,722 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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