INPP5E
inositol polyphosphate-5-phosphatase E
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. [provided by RefSeq, Jan 2016]
Known Variants637 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1128877 | 9:139,323,201 | A/G | — | likely benign |
| rs886063708 | 9:139,323,214 | A/G | — | uncertain significance |
| rs8413 | 9:139,323,311 | C/T | — | benign |
| rs778109117 | 9:139,323,316 | C/T | — | uncertain significance |
| rs564573606 | 9:139,323,364 | C/G | — | uncertain significance |
| rs191248562 | 9:139,323,380 | A/G | — | uncertain significance |
| rs886063709 | 9:139,323,400 | G/A | — | uncertain significance |
| rs886063710 | 9:139,323,406 | G/A | — | uncertain significance |
| rs1128874 | 9:139,323,424 | T/C | — | benign |
| rs539039743 | 9:139,323,497 | C/T | — | uncertain significance |
| rs931605716 | 9:139,323,545 | G/A | — | uncertain significance |
| rs1835639348 | 9:139,323,568 | G/A | — | uncertain significance |
| rs1358870988 | 9:139,323,643 | G/C | — | uncertain significance |
| rs35763810 | 9:139,323,799 | G/A | — | benign |
| rs376604726 | 9:139,323,892 | T/C | — | uncertain significance |
| rs544203657 | 9:139,323,914 | G/A | — | uncertain significance |
| rs35873563 | 9:139,324,029 | C/T | — | likely benign |
| rs199734968 | 9:139,324,114 | C/T | — | uncertain significance |
| rs372454719 | 9:139,324,122 | A/C | — | uncertain significance |
| rs201735585 | 9:139,324,136 | G/A | — | likely benign |
| rs753001340 | 9:139,324,143 | A/G | — | uncertain significance |
| rs2538869608 | 9:139,324,152 | G/C | — | uncertain significance |
| rs763184652 | 9:139,324,165 | G/A | — | likely pathogenic |
| rs764259572 | 9:139,324,168 | G/A | — | likely benign |
| rs1835654114 | 9:139,324,169 | T/G | — | likely benign |
| rs2538869652 | 9:139,324,174 | G/A | — | pathogenic |
| rs997604012 | 9:139,324,175 | C/T | — | likely benign |
| rs144720715 | 9:139,324,181 | C/T | — | likely benign |
| rs121918127 | 9:139,324,183 | G/C | missense variant | uncertain significance |
| rs148539728 | 9:139,324,187 | C/T | — | likely benign |
| rs1197098105 | 9:139,324,193 | C/T | — | likely benign |
| rs754887212 | 9:139,324,194 | G/A | — | uncertain significance |
| rs953200980 | 9:139,324,196 | A/T | — | likely benign |
| rs1588830568 | 9:139,324,200 | C/T | — | pathogenic |
| rs142759730 | 9:139,324,201 | G/A | missense variant | pathogenic |
| rs1200807419 | 9:139,324,205 | T/C | — | likely benign |
| rs1477067987 | 9:139,324,213 | C/T | — | uncertain significance |
| rs1564430711 | 9:139,324,216 | G/T | — | uncertain significance |
| rs1564430716 | 9:139,324,218 | A/C | — | pathogenic |
| rs1835655518 | 9:139,324,225 | G/A | — | likely benign |
| rs199875003 | 9:139,324,232 | A/T | — | uncertain significance |
| rs375144690 | 9:139,324,242 | C/T | — | uncertain significance |
| rs746372090 | 9:139,324,254 | G/A | — | uncertain significance |
| rs763271458 | 9:139,324,276 | G/A | — | likely benign |
| rs764347779 | 9:139,324,278 | C/A | — | likely benign |
| rs190316580 | 9:139,324,279 | G/A | — | likely benign |
| rs78191714 | 9:139,324,292 | C/T | — | likely benign |
| rs77350282 | 9:139,324,327 | G/A | — | benign |
| rs68142670 | 9:139,324,573 | T/C | — | benign |
| rs72775768 | 9:139,324,574 | C/T | — | benign |
| rs73670263 | 9:139,324,597 | G/A | — | likely benign |
| rs4451431 | 9:139,324,680 | T/C | — | benign |
| rs745341543 | 9:139,324,714 | C/T | — | likely benign |
| rs374679907 | 9:139,324,715 | G/A | — | likely benign |
| rs983827023 | 9:139,324,719 | G/A | — | likely benign |
| rs1158332419 | 9:139,324,731 | G/C | — | uncertain significance |
| rs750836133 | 9:139,324,735 | C/T | — | conflicting classifications of pathogenicity |
| rs1191043398 | 9:139,324,736 | G/A | — | pathogenic |
| rs33982662 | 9:139,324,737 | A/C | — | benign |
| rs10870182 | 9:139,324,740 | C/G | — | conflicting classifications of pathogenicity |
| rs760790290 | 9:139,324,741 | G/A | — | conflicting classifications of pathogenicity |
| rs765327224 | 9:139,324,744 | C/G | — | conflicting classifications of pathogenicity |
| rs1338062785 | 9:139,324,756 | C/T | — | uncertain significance |
| rs925789744 | 9:139,324,757 | G/A | — | uncertain significance |
| rs143552175 | 9:139,324,761 | G/A | — | likely benign |
| rs1835669405 | 9:139,324,764 | G/A | — | likely benign |
| rs1564431175 | 9:139,324,768 | T/C | — | uncertain significance |
| rs1308391041 | 9:139,324,769 | A/G | — | likely pathogenic |
| rs775518991 | 9:139,324,771 | — | — | pathogenic |
| rs1835669632 | 9:139,324,772 | C/T | — | uncertain significance |
| rs1222127887 | 9:139,324,773 | A/G | — | likely benign |
| rs2131604784 | 9:139,324,776 | G/T | — | likely benign |
| rs752300607 | 9:139,324,777 | C/T | missense variant | pathogenic |
| rs763992407 | 9:139,324,778 | G/A | — | pathogenic |
| rs756888841 | 9:139,324,784 | C/A | — | likely pathogenic |
| rs888901624 | 9:139,324,785 | G/A | — | likely benign |
| rs368026621 | 9:139,324,788 | C/T | — | conflicting classifications of pathogenicity |
| rs943471686 | 9:139,324,789 | G/A | — | uncertain significance |
| rs2538870842 | 9:139,324,791 | C/G | — | likely pathogenic |
| rs2131604828 | 9:139,324,794 | G/C | — | uncertain significance |
| rs559636009 | 9:139,324,799 | C/T | — | uncertain significance |
| rs371946549 | 9:139,324,800 | G/A | — | likely benign |
| rs147967974 | 9:139,324,801 | G/C | — | conflicting classifications of pathogenicity |
| rs1352231723 | 9:139,324,802 | G/A | — | uncertain significance |
| rs2131604859 | 9:139,324,805 | A/C | — | pathogenic |
| rs888610698 | 9:139,324,815 | G/A | — | conflicting classifications of pathogenicity |
| rs779177166 | 9:139,324,831 | T/A | — | uncertain significance |
| rs140543689 | 9:139,324,834 | C/T | — | likely benign |
| rs1212544429 | 9:139,324,837 | T/C | — | uncertain significance |
| rs2131604929 | 9:139,324,842 | G/T | — | likely benign |
| rs121918128 | 9:139,324,843 | C/T | missense variant | pathogenic |
| rs371960390 | 9:139,324,844 | G/A | — | conflicting classifications of pathogenicity |
| rs760729838 | 9:139,324,845 | G/A | — | conflicting classifications of pathogenicity |
| rs863225197 | 9:139,324,847 | T/C | missense variant | pathogenic |
| rs1417022247 | 9:139,324,859 | C/A | — | uncertain significance |
| rs776792436 | 9:139,324,860 | G/A | — | likely benign |
| rs992814593 | 9:139,324,861 | C/T | — | likely pathogenic |
| rs1024279229 | 9:139,324,862 | G/A | missense variant | pathogenic |
| rs369685858 | 9:139,324,870 | G/A | — | likely benign |
| rs372545147 | 9:139,324,877 | T/C | — | conflicting classifications of pathogenicity |
Showing 100 of 637 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.