INPP5E Chromosome 9
Inositol polyphosphate-5-phosphatase E
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What This Gene Does
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. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Phosphoinositide phosphatases
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000148384
Associated Conditions (11)
Joubert syndrome
Joubert syndrome 1
MORM syndrome
INPP5E-related disorder
Inborn genetic diseases
Optic atrophy
Joubert syndrome and related disorders
Retinal dystrophy
Rod-cone dystrophy
Leber congenital amaurosis
16 conditions
Key Variants
RS1024279229
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 1, MORM syndrome
Health Risk
RS10870182
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 1, Joubert syndrome
Health Risk
RS1161636527
Conflicting classifications of pathogenicity
Joubert syndrome 1, INPP5E-related disorder, Joubert syndrome 1
Health Risk
RS138068434
Conflicting classifications of pathogenicity
Joubert syndrome, INPP5E-related disorder, Joubert syndrome 1
Health Risk
RS143107549
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 1, Inborn genetic diseases
Health Risk
RS145264797
Conflicting classifications of pathogenicity
Joubert syndrome, INPP5E-related disorder, Joubert syndrome 1
Health Risk
RS145543466
Conflicting classifications of pathogenicity
Joubert syndrome 1, Joubert syndrome, Joubert syndrome 1
Health Risk
RS1479443394
Conflicting classifications of pathogenicity
Joubert syndrome, INPP5E-related disorder, Joubert syndrome
Health Risk
RS147967974
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 1, Optic atrophy
Health Risk
RS148592275
Conflicting classifications of pathogenicity
Joubert syndrome 1, Joubert syndrome, INPP5E-related disorder
Health Risk
RS1835755632
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 1, MORM syndrome
Health Risk
RS187724945
Conflicting classifications of pathogenicity
Joubert syndrome 1, Joubert syndrome, Joubert syndrome 1
Health Risk
All Variants (113)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1024279229 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, MORM syndrome |
| RS10870182 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, Joubert syndrome |
| RS1161636527 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, INPP5E-related disorder, Joubert syndrome 1 |
| RS138068434 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, INPP5E-related disorder, Joubert syndrome 1 |
| RS143107549 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, Inborn genetic diseases |
| RS145264797 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, INPP5E-related disorder, Joubert syndrome 1 |
| RS145543466 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, Joubert syndrome 1 |
| RS1479443394 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, INPP5E-related disorder, Joubert syndrome |
| RS147967974 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, Optic atrophy |
| RS148592275 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, INPP5E-related disorder |
| RS1835755632 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, MORM syndrome |
| RS187724945 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, Joubert syndrome 1 |
| RS187956407 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, INPP5E-related disorder |
| RS199873582 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, Inborn genetic diseases |
| RS200094721 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, MORM syndrome, Joubert syndrome 1 |
| RS200518324 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, MORM syndrome |
| RS200794870 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, INPP5E-related disorder, MORM syndrome |
| RS201272028 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, INPP5E-related disorder |
| RS367592401 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Joubert syndrome, INPP5E-related disorder |
| RS368026621 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, Joubert syndrome |
| RS371960390 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Joubert syndrome, MORM syndrome |
| RS372545147 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, Joubert syndrome 1 |
| RS373176644 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, Joubert syndrome |
| RS374152018 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, MORM syndrome |
| RS374718674 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, MORM syndrome |
| RS375126841 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, INPP5E-related disorder, Joubert syndrome |
| RS375909217 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Joubert syndrome 1, Rod-cone dystrophy |
| RS377483407 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, Joubert syndrome 1 |
| RS550485638 | Health Risk | Conflicting classifications of pathogenicity | Rod-cone dystrophy, Joubert syndrome, Joubert syndrome 1 |
| RS558778286 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, INPP5E-related disorder |
| RS571588033 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, INPP5E-related disorder |
| RS746782404 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, INPP5E-related disorder |
| RS746867724 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Rod-cone dystrophy, Joubert syndrome |
| RS74880446 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, Joubert syndrome |
| RS750331066 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, Rod-cone dystrophy |
| RS750836133 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome |
| RS752300607 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Rod-cone dystrophy, INPP5E-related disorder |
| RS753742613 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 1, MORM syndrome |
| RS754015058 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, Joubert syndrome 1 |
| RS757222534 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome |
| RS758951947 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Joubert syndrome, MORM syndrome |
| RS75939033 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Rod-cone dystrophy, INPP5E-related disorder |
| RS760729838 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, Joubert syndrome 1 |
| RS760790290 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, INPP5E-related disorder, MORM syndrome |
| RS763184652 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, Inborn genetic diseases |
| RS765327224 | Health Risk | Conflicting classifications of pathogenicity | Rod-cone dystrophy, Joubert syndrome, Retinal dystrophy |
| RS773590570 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, MORM syndrome, Joubert syndrome 1 |
| RS774331779 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome |
| RS776348228 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome |
| RS780119172 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 1, Joubert syndrome, Joubert syndrome 1 |