IPMK
Inositol Polyphosphate Multikinase
Gene Information Card
| Symbol | IPMK |
|---|---|
| Full Name | Inositol Polyphosphate Multikinase |
| Gene Type | protein-coding |
| Chromosomal Location | 10q21.3 |
| NCBI Gene ID | 253430 ncbi.nlm.nih.gov/gene/253430 |
| Ensembl ID | ENSG00000151247 |
| UniProt ID | Q8NFU5 |
| OMIM ID | 609275 |
| HGNC ID | 20777 |
| Aliases | IPK2, IPMK, MGC138290 |
Description
The IPMK gene encodes inositol polyphosphate multikinase, an enzyme that phosphorylates inositol phosphates to generate higher-order inositol polyphosphates such as IP4, IP5, and IP6. It plays a key role in inositol phosphate metabolism, cellular signaling, and regulation of the PI3K/AKT pathway. IPMK also functions as a nuclear coactivator and is involved in chromatin remodeling and gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered IPMK expression affects PI3K/AKT signaling and inositol phosphate levels, promoting cell proliferation and survival | COSMIC, PubMed |
| Neurodevelopmental disorders | IPMK mutations may disrupt inositol phosphate signaling critical for neuronal development | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Kidney | 8.9 | Low |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 11.2 | Medium expression |
| HepG2 | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact |
| c.452A>G (p.Asn151Ser) | Missense | <0.01% | Reported in COSMIC |
| c.784G>A (p.Gly262Arg) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain may reduce kinase activity, impairing inositol phosphate synthesis.
Gain of Function (GOF)
Not well documented; overexpression in some cancers suggests possible gain-of-function effects.
Dominant Negative (DN)
No evidence for dominant-negative mutations in IPMK.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K/AKT signaling pathway
• Inositol phosphate metabolism
• Phosphatidylinositol signaling system
Protein Summary
Inositol polyphosphate multikinase (IPMK) is a 416-amino acid enzyme that catalyzes the phosphorylation of inositol 1,4,5-trisphosphate (IP3) to generate inositol tetrakisphosphate (IP4), pentakisphosphate (IP5), and hexakisphosphate (IP6). It is a key regulator of the PI3K/AKT pathway and acts as a nuclear coactivator for transcription factors. IPMK is expressed in multiple tissues, with highest levels in brain and testis. Mutations and altered expression are associated with cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IPMK Knockout HEK293 Cell Line | EDJ-KQ1681 | Human | 253430 | Details Get a Quote |
| IPMK Knockout A-549 Cell Line | EDJ-KQ21462 | Human | 253430 | Details Get a Quote |
| IPMK Knockout HCT 116 Cell Line | EDJ-KQ21463 | Human | 253430 | Details Get a Quote |
| IPMK Knockout HeLa Cell Line | EDJ-KQ21464 | Human | 253430 | Details Get a Quote |
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