GENE NAME | PPIP5K2 |
CHROMOSOME | 5 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000145725 |
UNIPROT ACCESSION NUMBER | O43314 |
GO MOLECULAR FUNCTION | ['inositol hexakisphosphate kinase activity', 'diphosphoinositol-pentakisphosphate kinase activity', 'inositol hexakisphosphate 3-kinase activity', 'inositol hexakisphosphate 5-kinase activity', 'inositol heptakisphosphate kinase activity', 'inositol-1,3,4,5,6-pentakisphosphate kinase activity', 'inositol hexakisphosphate 1-kinase activity', '5-diphosphoinositol pentakisphosphate 3-kinase activity', 'ATP binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa04070; R-HSA-1430728; R-HSA-1483249; R-HSA-1855167; hsa04070; R-HSA-1430728; R-HSA-1483249; R-HSA-1855167 |
1 combination linked to PPIP5K2 | OLI1675 |
1 variant linked to PPIP5K2 | PPIP5K2:c.86A>C, p.Asp29Ala |
1 disease linked to PPIP5K2 | Non-Syndromic genetic keratoconus |