• Gene id: 7957

Gene Summary

• Gene Symbol: EPM2A   Gene   UCSC   Ensembl
• Aliases: EPM2, MELF
• Gene name: EPM2A glucan phosphatase, laforin
• Alternate names: laforin, EPM2A, laforin glucan phosphatase, LAFPTPase, epilepsy, progressive myoclonus type 2, Lafora disease (laforin), epilepsy, progressive myoclonus type 2A, Lafora disease (laforin), glucan phosphatase, glycogen phosphatase, lafora PTPase,
• Gene location: 6q24.3 (145736022: 145382539)     Exons: 14     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 609213

Protein Summary

• Protein general information: O95278  
  • Name: Laforin (EC 3.1.3. ) (EC 3.1.3.16) (EC 3.1.3.48) (Glucan phosphatase) (Glycogen phosphatase) (Lafora PTPase) (LAFPTPase)
  • Length: 331  
  • Mass: 37158
  • Tissue specificity: Expressed in heart, skeletal muscle, kidney, pancreas and brain. Isoform 4 is also expressed in the placenta. {ECO
• Sequence:

  MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAGTAAGDGALALQEPGLWLGEVELAAEEAAQDG
  AEPGRVDTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDGVYCLPIGHWIEATGHTNEMKHTTDFYFNIA
  GHQAMHYSRILPNIWLGSCPRQVEHVTIKLKHELGITAVMNFQTEWDIVQNSSGCNRYPEPMTPDTMIKLYREEG
  LAYIWMPTPDMSTEGRVQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAAVCGWLQYVMGWNLRKVQYFLMAKR
  PAVYIDEEALARAQEDFFQKFGKVRSSVCSL

• Structural information:
  • Protein Domains: (1..12-)
    (/note="CBM20-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00594-)
    (243..31-)
    (/note="Tyrosine-protein-phosphatase")
  • Interpro: IPR013784  IPR034831  IPR002044  IPR000340  IPR013783   IPR042942  IPR029021  IPR016130  IPR000387  IPR020422  
  • Prosite: PS51166 PS00383 PS50056 PS50054
  • CDD: cd05806
  • PDB: 4R30 4RKK
  • PDBsum: 4R30 4RKK
  • STRING: ENSP00000356489
• Other Databases: GeneCards:  EPM2A  Malacards:  EPM2A

Gene ontology

GO accession	Term name	Evidence code	Go category

Diseases

Associated diseases	References
Progressive myoclonic epilepsy	KEGG:H00810
Lafora disease	KEGG:H01994
Progressive myoclonic epilepsy	KEGG:H00810
Lafora disease	KEGG:H01994
Progressive myoclonus epilepsy	PMID:9771710
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray