Details for Gene PIKFYVE

GENE NAME PIKFYVE
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000115020
UNIPROT ACCESSION NUMBER Q9Y2I7
GO MOLECULAR FUNCTION ['zinc ion binding', 'phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity', 'protein serine/threonine/tyrosine kinase activity', 'protein binding', 'ATP hydrolysis activity', '1-phosphatidylinositol-3-phosphate 5-kinase activity', 'protein serine/threonine kinase activity', '1-phosphatidylinositol-4-phosphate 5-kinase activity', '1-phosphatidylinositol-5-kinase activity', 'protein serine kinase activity', 'ATP binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa00562; hsa01100; hsa04070; hsa04145; hsa04810; R-HSA-1430728; R-HSA-1483255; R-HSA-1483257; R-HSA-1660514; R-HSA-1660516; R-HSA-1660517; R-HSA-556833
1 combination linked to PIKFYVE OLI1674
1 variant linked to PIKFYVE PIKFYVE:c.3791+2T>C,
1 disease linked to PIKFYVE Non-Syndromic genetic keratoconus

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