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 |