Epm2a
Gene Detail

Symbol Name ID

Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha MGI:1341085

Synonyms

laforin, TG-B, Tg(TcraK,TcrbK)TG-BFlv

Feature Type

protein coding gene

Genetic Map

Chromosome 10

3.66 cM, cytoband A
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr10:11343404-11459644 bp, + strand From VEGA annotation of GRCm38   116241 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:38087  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken; 1 zebrafish

Gene Tree: Epm2a

Human homologs

Human Homolog		EPM2A, epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
NCBI Gene ID		7957
neXtProt AC		NX_O95278
Human Synonyms		EPM2, MELF
Human Chr (Location)		6q24; chr6:145946440-146056991 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human EPM2A

Alleles and phenotypes

All alleles(8) : Targeted(3) Gene trapped(4) Transgenic(1)
 

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.

 
Human Diseases Modeled Using Mouse Epm2a (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (27 annotations)

Process	carbohydrate metabolic process, dephosphorylation, ...
Component	cytoplasm, cytosol, ...
Function	carbohydrate binding, hydrolase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (19)    Tissues (14)   
Theiler Stages: 10, 18, 23, 25, 28

Assay Type	Results
RNA in situ	9
Northern blot	10

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(9) Genomic(1) cDNA(7) Other(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000031733 (Evidence)
Ensembl Gene Model	ENSMUSG00000055493 (Evidence)
Entrez Gene	13853 (Evidence)
DFCI	TC1592280, TC1607411, TC1686641
DoTS	DT.60102951, DT.91330379, DT.94122787
NIA Mouse Gene Index	U011263, U293292
EC	3.1.3.16, 3.1.3.48
Consensus CDS Project	CCDS23698.1
International Mouse Knockout Project Status	Epm2a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031733	VEGA Gene Model | MGI Sequence Detail	116241	C57BL/6J
transcript	OTTMUST00000078597	VEGA | MGI Sequence Detail	3287	Not Applicable
polypeptide	OTTMUSP00000041817	VEGA | MGI Sequence Detail	330	Not Applicable

All sequences(28) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(509 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR013784	Carbohydrate-binding-like fold
InterPro	IPR002044	Carbohydrate binding module family 20
InterPro	IPR024950	Dual specificity phosphatase
InterPro	IPR000340	Dual specificity phosphatase, catalytic domain
InterPro	IPR020422	Dual specificity phosphatase, subgroup, catalytic domain
InterPro	IPR013783	Immunoglobulin-like fold
InterPro	IPR000387	Protein-tyrosine/Dual-specificity phosphatase
InterPro	IPR016130	Protein-tyrosine phosphatase, active site
Protein Ontology	PR:000007136	laforin

References

(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:191025 Newman B, et al., HSP90 inhibitor 17-AAG selectively eradicates lymphoma stem cells. Cancer Res. 2012 Sep 1;72(17):4551-61
All references(55)

Other accession IDs

MGI:3764831