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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | O43314 | cf. EC 2.7.4.21 | - |
Mus musculus | Q6ZQB6 | - |
- |
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 | - |
Synonyms | Comment | Organism |
---|---|---|
PPIP5K2 | cf. EC 2.7.4.21 | Homo sapiens |
PPIP5K2 | cf. EC 2.7.4.21 | Mus musculus |
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 |