Gene: INPP5E

Alternate names for this Gene: CORS1|CPD4|JBTS1|MORMS|PPI5PIV|pharbin

Gene Summary: The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: inositol polyphosphate-5-phosphatase E

Type of Gene: protein-coding

rs121918130 in INPP5E gene and Familial aplasia of the vermis PMID 19668216 2009 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

PMID 23386033 2013 Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

PMID 19668215 2009 INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.

rs121918128 in INPP5E gene and Joubert syndrome 1 PMID 23386033 2013 Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

PMID 19668216 2009 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

PMID 29052317 2017 Defective ciliogenesis in INPP5E-related Joubert syndrome.

PMID 23034536 2013 The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 21448235 2011 Clinical utility gene card for: Joubert syndrome.