IP6K2
Inositol Hexakisphosphate Kinase 2
Gene Information Card
| Symbol | IP6K2 |
|---|---|
| Full Name | Inositol Hexakisphosphate Kinase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 51447 ncbi.nlm.nih.gov/gene/51447 |
| Ensembl ID | ENSG00000114520 |
| UniProt ID | Q9UHH9 |
| OMIM ID | 606992 |
| HGNC ID | 17291 |
| Aliases | IP6K2, IHPK2, PiUS, IP6K2A, IP6K2B |
Description
The IP6K2 gene encodes inositol hexakisphosphate kinase 2, an enzyme that phosphorylates inositol hexakisphosphate (IP6) to generate diphosphoinositol pentakisphosphate (IP7). This protein is involved in cellular signaling, apoptosis, and energy metabolism. It is located on chromosome 3p21.31 and is widely expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered IP6K2 expression affects apoptosis and cell proliferation; loss of function may promote tumorigenesis. | COSMIC, ClinVar |
| Neurodegenerative disorders | IP6K2 modulates inositol pyrophosphate signaling, impacting neuronal survival. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 22.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.7 | Medium expression |
| HepG2 | 11.3 | Medium expression |
| K562 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | <0.1% | Potential loss of kinase activity |
| c.832_833del (p.Leu278fs) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the kinase domain lead to loss of enzymatic activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in IP6K2.
Dominant Negative (DN)
No evidence for dominant-negative effects in IP6K2.
View complete mutation data：
Gene Ontology (GO)
| • inositol hexakisphosphate kinase activity (GO:0000828) | • ATP binding (GO:0005524) |
| • phosphorylation (GO:0016310) | • phosphatidylinositol dephosphorylation (GO:0046856) |
| • cytoplasm (GO:0005737) |
Pathways
• Inositol phosphate metabolism (Reactome: R-HSA-1483249)
• IP6 and IP7 signaling (Reactome: R-HSA-1660662)
Protein Summary
IP6K2 is a 426-amino acid protein with a molecular weight of approximately 48 kDa. It contains a conserved inositol phosphate kinase domain and catalyzes the conversion of IP6 to IP7. The protein is predominantly cytoplasmic and is involved in regulating apoptosis, vesicular trafficking, and cellular energy homeostasis. Structural studies indicate a two-domain architecture with an N-terminal ATP-binding lobe and a C-terminal substrate-binding lobe.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IP6K2 Knockout HEK293 Cell Line | EDJ-KQ1686 | Human | 51447 | Details Get a Quote |
| IP6K2 Knockout A-549 Cell Line | EDJ-KQ21477 | Human | 51447 | Details Get a Quote |
| IP6K2 Knockout HCT 116 Cell Line | EDJ-KQ21478 | Human | 51447 | Details Get a Quote |
| IP6K2 Knockout HeLa Cell Line | EDJ-KQ21479 | Human | 51447 | Details Get a Quote |
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