Gene table of INPP5E : inositol polyphosphate-5-phosphatase E

Gene-disease associations table

Disease IDDisease nameSource of annotation with INPP5EOMIM linkNumber of associated genesgenes
610156MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROMEClinVar, OMIM link to OMIM 1INPP5E
PS213300JOUBERT SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 27TCTN1, C5orf42, PDE6D, ARL13B, KIF7, TMEM231, TMEM67, KIAA0586, CC2D2A, MKS1, CEP104, AHI1, CEP41, ZNF423, EXOC8, CEP290, TCTN3, NPHP1, INPP5E, OFD1, TMEM237, TMEM216, KIAA0556, CSPP1, TMEM138, RPGRIP1L, TCTN2

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Annotation of the gene INPP5E

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Inositol phosphate metabolismhsa005626.72
Metabolic pathwayshsa011002.49
Phosphatidylinositol signaling systemhsa040706.38
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Synthesis of PIPs at the Golgi membraneR-HSA-16605148.81
ARL13B-mediated ciliary trafficking of INPP5ER-HSA-562495811.4
Organelle biogenesis and maintenanceR-HSA-18522414.63
Phospholipid metabolismR-HSA-14832575.83
PI MetabolismR-HSA-14832557.31
MetabolismR-HSA-14307282.34
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Cargo trafficking to the periciliary membraneR-HSA-56209207.31
Assembly of the primary ciliumR-HSA-56178335.44
Associated GO terms for Molecular function
GO termGO IDGO IC
phosphoric ester hydrolase activityGO:00425783.82
phosphatase activityGO:00167914.11
hydrolase activityGO:00167871.9
inositol trisphosphate phosphatase activityGO:00460307.34
hydrolase activity, acting on ester bondsGO:00167883.1
inositol phosphate phosphatase activityGO:00527456.74
phosphatidylinositol bisphosphate phosphatase activityGO:00345936.44
catalytic activityGO:00038241.05
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityGO:00044397.66
phosphatidylinositol phosphate 5-phosphatase activityGO:00345957.17
inositol-polyphosphate 5-phosphatase activityGO:00044458.13
phosphatidylinositol phosphate phosphatase activityGO:00528666.34