Details for Gene INPP5E

GENE NAME INPP5E
CHROMOSOME 9
ENSEMBL ID ENSG00000148384
ENTREZ ID 56623
UNIPROT ACCESSION NUMBER Q9NRR6
GO MOLECULAR FUNCTION phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity; phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa01100; R-HSA-1483255; R-HSA-556833; R-HSA-5620920; R-HSA-1430728; hsa04070; R-HSA-1660514; hsa00562; R-HSA-1852241; R-HSA-5617833; R-HSA-5624958; R-HSA-1483257
1 combination linked to INPP5E OLI322
1 variant linked to INPP5E INPP5E:c.532G>A, p.Val178Met
1 disease linked to INPP5E Bardet-Biedl syndrome

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