diphosphoinositol pentakisphosphate kinase 2
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Moderate Evidence (Amber)
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalhearing loss, autosomal recessive
type 2 diabetes mellitus
diabetes mellitus
liver disorder
androgenetic alopecia
diabetic retinopathy
connective tissue disorder
osteoarthritis, knee
schizophrenia
hypothyroidism
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2
Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4 (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). Phosphorylates inositol hexakisphosphate (InsP6) at position 1 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4 (PubMed:17690096, PubMed:17702752). Alternatively, phosphorylates PP-InsP5 at position 1, produced by IP6Ks from InsP6, to produce (PP)2-InsP4 (PubMed:17690096, PubMed:17702752). Required for normal hearing (PubMed:29590114)
Curated MONDO disease pages that list PPIP5K2 among their top associated genes.
PPIP5K2 · O43314
Mean pLDDT
70.1/ 100
Confident
1,243 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
