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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPIP5K2
diphosphoinositol pentakisphosphate kinase 2
Chromosome 5 · 5q21.1
NCBI Gene: 23262Ensembl: ENSG00000145725.21HGNC: HGNC:29035UniProt: A0A087WZV0
45PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ATP binding5-diphosphoinositol pentakisphosphate 1-kinase activitycytosolinositol hexakisphosphate kinase activityhearing loss, autosomal recessivetype 2 diabetes mellitusdiabetes mellitusliver disease
✦AI Summary

PPIP5K2 (diphosphoinositol pentakisphosphate kinase 2) is a bifunctional inositol kinase that synthesizes inositol pyrophosphates (PP-InsPs), including PP-InsP5 (InsP7) and (PP)2-InsP4 (InsP8), working in concert with IP6K kinases 1234. The enzyme phosphorylates inositol hexakisphosphate (InsP6) at position 1 to produce PP-InsP5, which is further phosphorylated by IP6Ks to generate (PP)2-InsP4 12. PPIP5K2 possesses both kinase and phosphatase activities, with kinetic properties insulated from cellular bioenergetic stress 5. These PP-InsP products regulate diverse cellular processes including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling, and neutrophil activation 1234. PPIP5K2 is essential for normal hearing; mutations cause autosomal recessive sensorineural hearing loss (DFNB100), with the gene expressed in cochlear and vestibular hair cells 4. Beyond auditory function, PPIP5K2 promotes tumorigenesis in multiple cancers: it facilitates colorectal cancer through DNA homologous recombination repair 6 and non-small cell lung cancer via AKT/mTOR signaling 7. Machine learning studies nominate PPIP5K2 within the inositol phosphate biosynthetic pathway as potentially involved in Parkinson's disease 8, while variants have been identified in keratoconus 9.

Sources cited
1
PPIP5K2 possesses both kinase and phosphatase activities, with kinetic properties insulated from cellular bioenergetic stress .
PMID: 23240582
2
PPIP5K2 (diphosphoinositol pentakisphosphate kinase 2) is a bifunctional inositol kinase that synthesizes inositol pyrophosphates (PP-InsPs), including PP-InsP5 (InsP7) and (PP)2-InsP4 (InsP8), working in concert with IP6K kinases , , , .
PMID: 29590114
3
Beyond auditory function, PPIP5K2 promotes tumorigenesis in multiple cancers: it facilitates colorectal cancer through DNA homologous recombination repair and non-small cell lung cancer via AKT/mTOR signaling .
PMID: 34645979
4
Beyond auditory function, PPIP5K2 promotes tumorigenesis in multiple cancers: it facilitates colorectal cancer through DNA homologous recombination repair and non-small cell lung cancer via AKT/mTOR signaling .
PMID: 38339341
5
Machine learning studies nominate PPIP5K2 within the inositol phosphate biosynthetic pathway as potentially involved in Parkinson's disease , while variants have been identified in keratoconus .
PMID: 37804111
6
Machine learning studies nominate PPIP5K2 within the inositol phosphate biosynthetic pathway as potentially involved in Parkinson's disease , while variants have been identified in keratoconus .
PMID: 31852976
Disease Associationsⓘ21
hearing loss, autosomal recessiveOpen Targets
0.49Moderate
type 2 diabetes mellitusOpen Targets
0.40Weak
diabetes mellitusOpen Targets
0.37Weak
liver diseaseOpen Targets
0.31Weak
diabetic retinopathyOpen Targets
0.25Weak
connective tissue diseaseOpen Targets
0.24Weak
androgenetic alopeciaOpen Targets
0.24Weak
intelligenceOpen Targets
0.22Weak
osteoarthritis, kneeOpen Targets
0.21Weak
mathematical abilityOpen Targets
0.21Weak
diabetic neuropathyOpen Targets
0.21Weak
schizophreniaOpen Targets
0.21Weak
hypothyroidismOpen Targets
0.20Weak
Abnormality of the skeletal systemOpen Targets
0.18Weak
diabetic eye diseaseOpen Targets
0.18Weak
autism spectrum disorderOpen Targets
0.17Weak
total knee arthroplastyOpen Targets
0.17Weak
osteoarthritis, hipOpen Targets
0.17Weak
total joint arthroplastyOpen Targets
0.17Weak
attention deficit hyperactivity disorderOpen Targets
0.15Weak
Deafness, autosomal recessive, 100UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPIP5K1Protein interaction97%ADCYAP1Protein interaction85%VIPProtein interaction85%VIPR2Protein interaction85%IPPKProtein interaction84%IP6K3Protein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
35%
Heart
34%
Liver
27%
Brain
22%
Lung
20%
Gene Interaction Network
Click a node to explore
PPIP5K2PPIP5K1ADCYAP1VIPVIPR2IPPKIP6K3
PROTEIN STRUCTURE
Preparing viewer…
PDB3T7A · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.66–0.97]
RankingsWhere PPIP5K2 stands among ~20K protein-coding genes
  • #9,503of 20,598
    Most Researched45
  • #9,253of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedPPIP5K2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
PMID: 29590114
PLoS Genet · 2018
1.00
2
Comprehensive Analysis of Diabetes Mellitus-related Gene Expression and Associated Prognoses in Human Lung Cancer.
PMID: 37254545
Curr Cancer Drug Targets · 2023
0.90
3
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.
PMID: 31852976
Sci Rep · 2019
0.80
4
Suppressing MDSC Infiltration in Tumor Microenvironment Serves as an Option for Treating Ovarian Cancer Metastasis.
PMID: 35813475
Int J Biol Sci · 2022
0.70
5
The kinetic properties of a human PPIP5K reveal that its kinase activities are protected against the consequences of a deteriorating cellular bioenergetic environment.
PMID: 23240582
Biosci Rep · 2013
0.60