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Literature summary for 2.7.4.24 extracted from

  • Yousaf, R.; Gu, C.; Ahmed, Z.M.; Khan, S.N.; Friedman, T.B.; Riazuddin, S.; Shears, S.B.; Riazuddin, S.
    Mutations in diphosphoinositol-pentakisphosphate kinase PPIP5K2 are associated with hearing loss in human and mouse (2018), PLoS Genet., 14, e1007297 .
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine transition variant R837H segregates with DFNB100-associated hearing loss Homo sapiens
medicine transition variant R837H segregates with DFNB100-associated hearing loss Mus musculus

Protein Variants

Protein Variants Comment Organism
R837H variant R837H segregates with DFNB100-associated hearing loss. Mutation reduces the phosphatase activity of PPIP5K2 and elevates its kinase activity Homo sapiens
R837H variant R837H segregates with DFNB100-associated hearing loss. Mutation reduces the phosphatase activity of PPIP5K2 and elevates its kinase activity Mus musculus

Organism

Organism UniProt Comment Textmining
Homo sapiens O43314 cf. EC 2.7.4.21
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Mus musculus Q6ZQB6
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Source Tissue

Source Tissue Comment Organism Textmining
ear inner ear, PPIP5K2 is expressed in the cochlear and vestibular sensory hair cells, supporting cells and spiral ganglion neurons Mus musculus
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Synonyms

Synonyms Comment Organism
PPIP5K2 cf. EC 2.7.4.21 Homo sapiens
PPIP5K2 cf. EC 2.7.4.21 Mus musculus

General Information

General Information Comment Organism
physiological function mice homozygous for a targeted deletion of the Ppip5k2 phosphatase domain exhibit degeneration of cochlear outer hair cells and elevated hearing thresholds Mus musculus