EPM2AIP1: EPM2A Interacting Protein 1
A gene encoding a protein involved in glycogen metabolism and associated with progressive myoclonus epilepsy.
Gene Information Card
| Symbol | EPM2AIP1 |
|---|---|
| Full Name | EPM2A Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 9852 ncbi.nlm.nih.gov/gene/9852 |
| Ensembl ID | ENSG00000163631 |
| UniProt ID | Q7L775 |
| OMIM ID | 609256 |
| HGNC ID | 19735 |
| Aliases | FLJ20574, MGC138290, MGC138292 |
Description
EPM2AIP1 encodes a protein that interacts with EPM2A (laforin), a dual-specificity phosphatase involved in glycogen metabolism. This interaction is critical for the regulation of glycogen synthesis and the prevention of polyglucosan accumulation. Mutations in EPM2AIP1 are associated with progressive myoclonus epilepsy (Lafora disease), a severe neurodegenerative disorder characterized by myoclonus, seizures, and cognitive decline.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive myoclonus epilepsy (Lafora disease) | Loss of function of EPM2AIP1 disrupts the laforin-EPM2AIP1 complex, leading to abnormal glycogen accumulation (Lafora bodies) in neurons. | OMIM #609256; ClinVar; PMID: 14574644 |
| Epilepsy, progressive myoclonic 2B (EPM2B) | Mutations in EPM2AIP1 cause a form of Lafora disease with autosomal recessive inheritance. | OMIM #254780; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Skeletal Muscle | 5.4 | Low |
| Kidney | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| HEK293 (embryonic kidney) | 7.8 | Common cell line |
| HepG2 (liver) | 5.3 | Hepatocyte model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205C>T (p.Arg69*) | Nonsense | Rare | Loss of function; associated with Lafora disease |
| c.436G>A (p.Gly146Arg) | Missense | Rare | Impaired interaction with laforin |
| c.724_725del (p.Leu242fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in EPM2AIP1 are loss-of-function (nonsense, frameshift, or missense that disrupt protein interaction), leading to Lafora disease.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • biological_process (GO:0008150) | • carbohydrate metabolic process (GO:0005975) |
| • glycogen metabolic process (GO:0005977) | • protein binding (GO:0005515) |
| • cytoplasm (GO:0005737) |
Pathways
• Glycogen metabolism (Reactome: R-HSA-8982491)
• Lafora disease pathway (KEGG: hsa05030)
Protein Summary
EPM2AIP1 is a 330-amino acid protein that localizes to the cytoplasm and interacts with laforin (EPM2A). This interaction is essential for laforin's phosphatase activity and its role in regulating glycogen metabolism. The EPM2AIP1 protein contains a carbohydrate-binding domain that may target the complex to glycogen particles. Loss of EPM2AIP1 function leads to accumulation of poorly branched glycogen (Lafora bodies) in neurons, causing progressive myoclonus epilepsy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPM2AIP1 Knockout HEK293 Cell Line | EDJ-KQ3529 | Human | 9852 | Details Get a Quote |
| EPM2AIP1 Knockout A-549 Cell Line | EDJ-KQ25370 | Human | 9852 | Details Get a Quote |
| EPM2AIP1 Knockout HCT 116 Cell Line | EDJ-KQ25371 | Human | 9852 | Details Get a Quote |
| EPM2AIP1 Knockout HeLa Cell Line | EDJ-KQ25372 | Human | 9852 | Details Get a Quote |
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