Details for Gene PPIP5K2

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

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