| Gene Information | |
|---|---|
| Gene Name | EPM2A |
| Organism | Homo sapiens (Human) |
| Gene Length | 331 |
| Protein Names | Laforin (EC 3.1.3.-) (EC 3.1.3.16) (EC 3.1.3.48) (Glucan phosphatase) (Glycogen phosphatase) (Lafora PTPase) (LAFPTPase) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000112425 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | O95278 |
| Gene Card | EPM2A |
| Uniprot ID | O95278 |
| Pfam | PF00686; PF00782 |
| In ASD | no |
| Allosteric Prediction | no (-0.234344599) |
| Ortholog in Animals | Alpaca_ EPM2A ( ortholog_one2one ) GuineaPig_ EPM2A ( ortholog_one2one ) Macaque_ EPM2A ( ortholog_one2one ) Mouse_ Epm2a ( ortholog_one2one ) Pig_ EPM2A ( ortholog_one2one ) Rat_ Epm2a ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | DUSP6, DUSP4, DUSP12, DUSP10, STYXL2, SSH3, DUSP19, DUSP1, KASH5, SSH1, DUSP29, DUSP16, DUSP21, DUSP2, DUSP8, DUSP13, DUSP7, DUSP26, STYX, SSH2, PTPMT1, DUSP22, DUSP18, DUSP15, DUSP14, DUSP28, STYXL1, DUSP5, DUSP9, DUSP3 |
| Tissue | NA |
| Tissue Specificity | Expressed in heart, skeletal muscle, kidney, pancreas and brain. Isoform 4 is also expressed in the placenta. {ECO:0000269|PubMed:14532330, ECO:0000269|PubMed:9771710}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.002990(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 4R30 (X-ray 2.30A ) 4RKK (X-ray 2.40A ) |
| DBSNP | rs104893955 rs374338349 rs1362231306 rs1463000703 rs137852915 rs137852916 rs375544596 rs137852917 rs796052427 rs796052428 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:11220751, ECO:0000269|PubMed:11739371, ECO:0000269|PubMed:15102711, ECO:0000269|PubMed:17908927}. Note=Under glycogenolytic conditions localizes to the nucleus. {ECO:0000269|PubMed:17908927}.; [Isoform 1]: Cytoplasm {ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:11739371, ECO:0000269|PubMed:11883934, ECO:0000269|PubMed:14532330, ECO:0000269|PubMed:18311786, ECO:0000269|PubMed:18617530, ECO:0000269|PubMed:22036712}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:14722920, ECO:0000269|PubMed:18311786}; Peripheral membrane protein {ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:18311786}; Cytoplasmic side {ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:18311786}. Cell membrane {ECO:0000269|PubMed:11220751}. Note=Colocalizes with glycogen synthase in punctate structures in the cytoplasm (PubMed:11739371, PubMed:14532330). Primarily associated with polyribosomes at the rough endoplasmic reticulum, and also detected at the plasma membrane (PubMed:11001928, PubMed:11220751, PubMed:11883934, PubMed:18311786). {ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:11220751, ECO:0000269|PubMed:11739371, ECO:0000269|PubMed:11883934, ECO:0000269|PubMed:14532330, ECO:0000269|PubMed:18311786}.; [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:18617530}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:11883934}; Peripheral membrane protein {ECO:0000269|PubMed:11883934}; Cytoplasmic side {ECO:0000269|PubMed:11883934}. Cell membrane {ECO:0000269|PubMed:11883934}. Nucleus {ECO:0000269|PubMed:11883934, ECO:0000269|PubMed:14722920, ECO:0000269|PubMed:18617530}. Note=Also found in the nucleus. {ECO:0000269|PubMed:11883934, ECO:0000269|PubMed:18617530}.; [Isoform 4]: Cytoplasm {ECO:0000269|PubMed:22036712}. Nucleus {ECO:0000269|PubMed:22036712}.; [Isoform 5]: Cytoplasm {ECO:0000269|PubMed:22036712}. Nucleus {ECO:0000269|PubMed:22036712}.; [Isoform 7]: Cytoplasm {ECO:0000269|PubMed:22036712}. |
| Mouse PG classification | HPG |
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