IPPK (Inositol-Pentakisphosphate 2-Kinase)
Gene encoding a key enzyme in inositol phosphate metabolism, involved in cellular signaling and potential tumor suppression.
Gene Information Card
| Symbol | IPPK |
|---|---|
| Full Name | Inositol-Pentakisphosphate 2-Kinase |
| Gene Type | Protein-coding |
| Chromosomal Location | 9q22.31 |
| NCBI Gene ID | 64768 ncbi.nlm.nih.gov/gene/64768 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q9H8X2 |
| OMIM ID | 609775 |
| HGNC ID | 21542 |
| Aliases | IP5 2-kinase, IPPK, FLJ11127 |
Description
IPPK encodes inositol-pentakisphosphate 2-kinase, an enzyme that catalyzes the phosphorylation of inositol 1,3,4,5,6-pentakisphosphate (IP5) to inositol hexakisphosphate (IP6). This reaction is a key step in the inositol phosphate signaling pathway, which regulates cellular processes such as proliferation, differentiation, and apoptosis. IPPK is widely expressed and has been implicated in cancer biology, with mutations and altered expression observed in various tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered IPPK expression may disrupt IP6 levels, affecting cell signaling and growth control. | COSMIC; literature (PMID: 23535729) |
| Colorectal cancer | Somatic mutations and reduced expression of IPPK have been reported in colorectal tumors. | COSMIC; literature (PMID: 23535729) |
| Breast cancer | IPPK expression changes observed in breast cancer cell lines and tissues. | COSMIC; literature (PMID: 23535729) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.7 | High expression |
| HeLa | 14.2 | Medium expression |
| MCF7 | 9.8 | Low expression |
| HepG2 | 11.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.1% | Unknown functional impact |
| c.1246G>A (p.Gly416Arg) | Missense | <0.1% | Unknown functional impact |
| c.1450_1451del (p.Leu484fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of enzyme activity, potentially disrupting IP6 synthesis and cellular signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported for IPPK.
Dominant Negative (DN)
No dominant-negative mutations have been described for IPPK.
View complete mutation data：
Gene Ontology (GO)
| • inositol pentakisphosphate 2-kinase activity | • ATP binding |
| • inositol phosphate metabolic process | • phosphorylation |
| • signal transduction |
Pathways
• Inositol phosphate metabolism (KEGG: map00562)
• Phosphatidylinositol signaling system (KEGG: map04070)
Protein Summary
IPPK is a 484-amino acid protein that localizes to the cytoplasm and nucleus. It belongs to the inositol phosphate kinase family and is essential for the conversion of IP5 to IP6. IP6 is a key signaling molecule involved in chromatin remodeling, mRNA export, and DNA repair. The enzyme is highly conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IPPK Knockout HEK293 Cell Line | EDJ-KQ1684 | Human | 64768 | Details Get a Quote |
| IPPK Knockout HCT 116 Cell Line | EDJ-KQ20128 | Human | 64768 | Details Get a Quote |
| IPPK Knockout A-549 Cell Line | EDJ-KQ21471 | Human | 64768 | Details Get a Quote |
| IPPK Knockout HeLa Cell Line | EDJ-KQ21473 | Human | 64768 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
