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.