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MGI:Epm2a

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Contents

Species (Taxon ID) Mus musculus (house mouse) (taxon:10090)
Gene Name(s) Epm2a ( synonyms: laforin )
Protein Name(s) epilepsy, progressive myoclonic epilepsy, type 2 gene alpha,
External Links
MGI MGI:1341085

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0004722

protein serine/threonine phosphatase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:O95278

F

From MGI

GO:0004725

protein tyrosine phosphatase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:O95278

F

From MGI

GO:0005634

nucleus

MGI:MGI:3758968
PMID:17908927[1]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:3758968
PMID:17908927[1]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:O95278

C

From MGI

GO:0005829

cytosol

MGI:MGI:2675701
PMID:12915448[2]

ISA: Inferred from Sequence Alignment

UniProtKB:O95278

C

From MGI

GO:0005829

cytosol

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:O95278

C

From MGI

GO:0005844

polysome

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:O95278

C

From MGI

GO:0006470

protein dephosphorylation

MGI:MGI:4459044

PANTHER:PTHR10159

P

From MGI

GO:0006470

protein dephosphorylation

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:O95278

P

From MGI

GO:0007399

nervous system development

MGI:MGI:2179940
PMID:12019206[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2182627

P

From MGI

GO:0007610

behavior

MGI:MGI:2179940
PMID:12019206[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2182627

P

From MGI

GO:0008138

protein tyrosine/serine/threonine phosphatase activity

MGI:MGI:2179940
PMID:12019206[3]

TAS: Traceable Author Statement

F

From MGI

GO:0008138

protein tyrosine/serine/threonine phosphatase activity

MGI:MGI:4459044

PANTHER:PTHR10159

F

From MGI

GO:0016787

hydrolase activity

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0378

F

From MGI

GO:0035335

peptidyl-tyrosine dephosphorylation

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:O95278

P

From MGI


Notes

References

See Help:References for how to manage references in GONUTS.
  1. 1.0 1.1 Cheng A et al. (2007) A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease. Genes Dev 21: 2399-409 PubMed GONUTS page
  2. Ganesh S et al. (2003) The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. Hum Mol Genet 12: 2359-68 PubMed GONUTS page
  3. 3.0 3.1 3.2 Ganesh S et al. (2002) Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. Hum Mol Genet 11: 1251-62 PubMed GONUTS page
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