IMPA2: Inositol Monophosphatase 2
A key enzyme in phosphatidylinositol signaling and potential therapeutic target for bipolar disorder
Gene Information Card
| Symbol | IMPA2 |
|---|---|
| Full Name | Inositol Monophosphatase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.21 |
| NCBI Gene ID | 3613 ncbi.nlm.nih.gov/gene/3613 |
| Ensembl ID | ENSG00000141401 |
| UniProt ID | O14732 |
| OMIM ID | 605922 |
| HGNC ID | 6051 |
| Aliases | IMP 2, IMPase 2, inositol monophosphatase 2 |
Description
IMPA2 encodes inositol monophosphatase 2, an enzyme that catalyzes the dephosphorylation of inositol monophosphates to free inositol, a critical step in the phosphatidylinositol signaling pathway. This enzyme is a target of lithium, used in bipolar disorder treatment. IMPA2 is expressed in brain and other tissues, and genetic variants have been associated with bipolar disorder and lithium response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Genetic variants in IMPA2 may alter inositol metabolism, affecting lithium response and mood regulation | PMID: 11590528, ClinVar |
| Lithium response | IMPA2 polymorphisms influence therapeutic efficacy of lithium in bipolar patients | PMID: 17632507 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 10.2 | Medium |
| Testis | 8.9 | Low |
| Kidney | 6.3 | Low |
| Liver | 4.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| HEK293 (embryonic kidney) | 9.8 | Common expression system |
| HepG2 (hepatocellular carcinoma) | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2075820 (c.240C>T) | SNP | 0.15 (global) | May alter enzyme activity; associated with bipolar disorder |
| rs3786282 (c.456G>A) | SNP | 0.22 (global) | Linked to lithium response |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylinositol signaling system (KEGG: hsa04070)
• Inositol phosphate metabolism (KEGG: hsa00562)
Protein Summary
Inositol monophosphatase 2 (IMPA2) is a 288-amino acid enzyme that hydrolyzes inositol monophosphates to inositol, essential for phosphatidylinositol recycling. It is a homodimer requiring magnesium for activity. IMPA2 is inhibited by lithium, which is thought to underlie its therapeutic effect in bipolar disorder. The protein is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IMPA2 Knockout HEK293 Cell Line | EDJ-KQ1037 | Human | 3613 | Details Get a Quote |
| IMPA2 Knockout A-549 Cell Line | EDJ-KQ21487 | Human | 3613 | Details Get a Quote |
| IMPA2 Knockout HCT 116 Cell Line | EDJ-KQ21488 | Human | 3613 | Details Get a Quote |
| IMPA2 Knockout HeLa Cell Line | EDJ-KQ21489 | Human | 3613 | Details Get a Quote |
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