PPIP5K2 Gene - Inositol Pyrophosphate Biosynthesis
Comprehensive gene card for PPIP5K2, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | PPIP5K2 |
|---|---|
| Full Name | Diphosphoinositol pentakisphosphate kinase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q21.1 |
| NCBI Gene ID | 23262 ncbi.nlm.nih.gov/gene/23262 |
| Ensembl ID | ENSG00000145782 |
| UniProt ID | Q6PFW1 |
| OMIM ID | 611648 |
| HGNC ID | 26039 |
| Aliases | IP6K2, HISPPD2A, VIP2, KIAA0377 |
Description
PPIP5K2 encodes an inositol pyrophosphate kinase that catalyzes the conversion of diphosphoinositol pentakisphosphate (IP7) to bis-diphosphoinositol tetrakisphosphate (IP8). The enzyme plays a key role in cellular signaling, phosphate homeostasis, and energy metabolism. It is widely expressed and has been implicated in cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered inositol pyrophosphate signaling may affect cell proliferation and apoptosis. | COSMIC; literature |
| Metabolic syndrome | Dysregulation of IP8 levels linked to insulin signaling. | UniProt; literature |
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 |
|---|---|---|
| HEK293 | 18.5 | High expression |
| HeLa | 12.3 | Medium expression |
| HepG2 | 14.7 | Medium expression |
| K562 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional effect |
| c.567_568del (p.Glu190fs) | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu190fs) likely result in truncated, non-functional protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • inositol hexakisphosphate kinase activity (GO:0000828) |
| • kinase activity (GO:0016301) | • inositol phosphate biosynthetic process (GO:0032958) |
| • cytoplasm (GO:0005737) |
Pathways
• Inositol phosphate metabolism (Reactome: R-HSA-1483249)
• Synthesis of IP3 and IP4 in the cytosol (Reactome: R-HSA-1855191)
Protein Summary
PPIP5K2 is a 460-amino acid protein containing an N-terminal kinase domain and a C-terminal histidine acid phosphatase-like domain. It phosphorylates IP7 to generate IP8, a high-energy inositol pyrophosphate involved in cellular signaling, vesicle trafficking, and phosphate sensing. The protein is predominantly cytoplasmic and ubiquitously expressed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPIP5K2 Knockout HEK293 Cell Line | EDJ-KQ1687 | Human | 23262 | Details Get a Quote |
| PPIP5K2 Knockout A-549 Cell Line | EDJ-KQ21481 | Human | 23262 | Details Get a Quote |
| PPIP5K2 Knockout HCT 116 Cell Line | EDJ-KQ21482 | Human | 23262 | Details Get a Quote |
| PPIP5K2 Knockout HeLa Cell Line | EDJ-KQ21483 | Human | 23262 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
