Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4952
Gene name	OCRL inositol polyphosphate-5-phosphatase
Gene symbol	OCRL
Synonyms (NCBI Gene)	DENT2Dent-2INPP5FLOCRNPHL2OCRL-1OCRL1
Chromosome	X
Chromosome location	Xq26.1
Summary	This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plas

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137853260	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853261	C>G	Pathogenic	Coding sequence variant, missense variant
rs137853262	A>G	Pathogenic	Coding sequence variant, missense variant
rs137853263	C>A,T	Not-provided, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs137853846	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs387906484	C>T	Pathogenic	Stop gained, coding sequence variant
rs398123287	C>G,T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, coding sequence variant
rs398123288	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123289	G>A,T	Pathogenic	Splice acceptor variant
rs398123290	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs749551841	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs765141317	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs776743373	G>A,T	Pathogenic	Intron variant
rs794727137	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794727182	G>A	Pathogenic	Splice acceptor variant
rs794727333	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039518	C>T	Pathogenic	Missense variant, coding sequence variant
rs886039519	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041880	A>G	Pathogenic	Splice acceptor variant
rs935956958	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs1057515577	A>G	Pathogenic	Intron variant
rs1057518276	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520078	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057520613	A>C	Pathogenic	Missense variant, coding sequence variant
rs1057521742	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521952	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1182741031	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1556338810	AGATGTGTTCAAGGTACTAGCTTTAATTCCTTAGCTAGTTTTATAATGTTTTTTCTCGGTCATTACTGCATTATGTAATACCATACATATTTAAATTTGTCAGTGCATGTAAAATGAAATGTATTACTCTTTGCATAAAAAGATAACATTGAGGAGATGATACTTTCTCTAAGAATGCTGAAGGGTTATATCGAAATATATTTGTATATGTGTGTCTATAGTCTCACCTGTTTCCTTGGCTTGGGTTAGAGATGT	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1556345557	->A	Likely-pathogenic	Splice acceptor variant
rs1556345889	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1556346271	CTTCTTATATTTGCCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556346316	C>T	Pathogenic	Stop gained, coding sequence variant
rs1569458883	G>C	Likely-pathogenic	Splice donor variant
rs1569463775	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602780580	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1602782082	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1602782195	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602783564	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1602791255	CT>-	Pathogenic	Coding sequence variant, stop gained
rs1602802472	T>A	Pathogenic	Coding sequence variant, missense variant
rs1602802640	A>C	Pathogenic	Coding sequence variant, missense variant
rs1602818783	G>A	Likely-pathogenic	Splice donor variant
rs1602819835	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602820970	G>A	Likely-pathogenic	Splice acceptor variant

316

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miRTarBase ID	miRNA	Experiments	Reference
MIRT047730	hsa-miR-10a-5p	CLASH	23622248
MIRT044664	hsa-miR-320a	CLASH	23622248
MIRT043931	hsa-miR-378a-3p	CLASH	23622248
MIRT042349	hsa-miR-484	CLASH	23622248
MIRT326301	hsa-miR-15a-5p	HITS-CLIP	23313552
MIRT326305	hsa-miR-195-5p	HITS-CLIP	23313552
MIRT326302	hsa-miR-16-5p	HITS-CLIP	23313552
MIRT326307	hsa-miR-497-5p	HITS-CLIP	23313552
MIRT326310	hsa-miR-503-5p	HITS-CLIP	23313552
MIRT326315	hsa-miR-6838-5p	HITS-CLIP	23313552
MIRT326304	hsa-miR-15b-5p	HITS-CLIP	23313552
MIRT326306	hsa-miR-424-5p	HITS-CLIP	23313552
MIRT701241	hsa-miR-495-3p	HITS-CLIP	23313552
MIRT701239	hsa-miR-5688	HITS-CLIP	23313552
MIRT701240	hsa-miR-7-1-3p	HITS-CLIP	23313552
MIRT701238	hsa-miR-7-2-3p	HITS-CLIP	23313552
MIRT326311	hsa-miR-646	HITS-CLIP	23313552
MIRT175616	hsa-miR-1245a	HITS-CLIP	23313552
MIRT175641	hsa-miR-8079	HITS-CLIP	23313552
MIRT701237	hsa-miR-8062	HITS-CLIP	23313552
MIRT701236	hsa-miR-410-3p	HITS-CLIP	23313552
MIRT701235	hsa-miR-1251-3p	HITS-CLIP	23313552
MIRT701234	hsa-miR-4668-5p	HITS-CLIP	23313552
MIRT701233	hsa-miR-3153	HITS-CLIP	23313552
MIRT701232	hsa-miR-6733-5p	HITS-CLIP	23313552
MIRT701231	hsa-miR-6739-5p	HITS-CLIP	23313552
MIRT701230	hsa-miR-4524a-5p	HITS-CLIP	23313552
MIRT701229	hsa-miR-4524b-5p	HITS-CLIP	23313552
MIRT701228	hsa-miR-3606-5p	HITS-CLIP	23313552
MIRT701227	hsa-miR-921	HITS-CLIP	23313552
MIRT701226	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT701225	hsa-miR-3122	HITS-CLIP	23313552
MIRT701224	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT701223	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT701222	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT547247	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT108775	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT108777	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT547246	hsa-miR-5692b	PAR-CLIP	21572407
MIRT547245	hsa-miR-5692c	PAR-CLIP	21572407
MIRT108776	hsa-miR-425-5p	PAR-CLIP	21572407
MIRT108774	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT547244	hsa-miR-4462	PAR-CLIP	21572407
MIRT326317	hsa-miR-450b-5p	PAR-CLIP	21572407
MIRT443332	hsa-miR-6768-3p	PAR-CLIP	22100165
MIRT443331	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT443330	hsa-miR-505-5p	PAR-CLIP	22100165
MIRT175599	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT175594	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT175599	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT175591	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT175602	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT175596	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT175607	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT175592	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT175593	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT175594	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT326301	hsa-miR-15a-5p	HITS-CLIP	23313552
MIRT326305	hsa-miR-195-5p	HITS-CLIP	23313552
MIRT326302	hsa-miR-16-5p	HITS-CLIP	23313552
MIRT326307	hsa-miR-497-5p	HITS-CLIP	23313552
MIRT326310	hsa-miR-503-5p	HITS-CLIP	23313552
MIRT326315	hsa-miR-6838-5p	HITS-CLIP	23313552
MIRT326304	hsa-miR-15b-5p	HITS-CLIP	23313552
MIRT326306	hsa-miR-424-5p	HITS-CLIP	23313552
MIRT701241	hsa-miR-495-3p	HITS-CLIP	23313552
MIRT701239	hsa-miR-5688	HITS-CLIP	23313552
MIRT701240	hsa-miR-7-1-3p	HITS-CLIP	23313552
MIRT701238	hsa-miR-7-2-3p	HITS-CLIP	23313552
MIRT326311	hsa-miR-646	HITS-CLIP	23313552
MIRT175616	hsa-miR-1245a	HITS-CLIP	23313552
MIRT175641	hsa-miR-8079	HITS-CLIP	23313552
MIRT701237	hsa-miR-8062	HITS-CLIP	23313552
MIRT701236	hsa-miR-410-3p	HITS-CLIP	23313552
MIRT701235	hsa-miR-1251-3p	HITS-CLIP	23313552
MIRT701234	hsa-miR-4668-5p	HITS-CLIP	23313552
MIRT701233	hsa-miR-3153	HITS-CLIP	23313552
MIRT701232	hsa-miR-6733-5p	HITS-CLIP	23313552
MIRT701231	hsa-miR-6739-5p	HITS-CLIP	23313552
MIRT701230	hsa-miR-4524a-5p	HITS-CLIP	23313552
MIRT701229	hsa-miR-4524b-5p	HITS-CLIP	23313552
MIRT701228	hsa-miR-3606-5p	HITS-CLIP	23313552
MIRT701227	hsa-miR-921	HITS-CLIP	23313552
MIRT701226	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT701225	hsa-miR-3122	HITS-CLIP	23313552
MIRT701224	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT701223	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT701222	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT547247	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT108775	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT108777	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT547246	hsa-miR-5692b	PAR-CLIP	21572407
MIRT547245	hsa-miR-5692c	PAR-CLIP	21572407
MIRT108776	hsa-miR-425-5p	PAR-CLIP	21572407
MIRT108774	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT547244	hsa-miR-4462	PAR-CLIP	21572407
MIRT326317	hsa-miR-450b-5p	PAR-CLIP	21572407
MIRT443332	hsa-miR-6768-3p	PAR-CLIP	22100165
MIRT443331	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT443330	hsa-miR-505-5p	PAR-CLIP	22100165
MIRT1202014	hsa-miR-1246	CLIP-seq
MIRT1202015	hsa-miR-1287	CLIP-seq
MIRT1202016	hsa-miR-1290	CLIP-seq
MIRT1202017	hsa-miR-1910	CLIP-seq
MIRT1202018	hsa-miR-197	CLIP-seq
MIRT1202019	hsa-miR-3120-3p	CLIP-seq
MIRT1202020	hsa-miR-3135b	CLIP-seq
MIRT1202021	hsa-miR-3167	CLIP-seq
MIRT1202022	hsa-miR-3173-3p	CLIP-seq
MIRT1202023	hsa-miR-3689d	CLIP-seq
MIRT1202024	hsa-miR-370	CLIP-seq
MIRT1202025	hsa-miR-3915	CLIP-seq
MIRT1202026	hsa-miR-3928	CLIP-seq
MIRT1202027	hsa-miR-4305	CLIP-seq
MIRT1202028	hsa-miR-4476	CLIP-seq
MIRT1202029	hsa-miR-4533	CLIP-seq
MIRT1202030	hsa-miR-455-3p	CLIP-seq
MIRT1202031	hsa-miR-4659a-3p	CLIP-seq
MIRT1202032	hsa-miR-4659b-3p	CLIP-seq
MIRT1202033	hsa-miR-4663	CLIP-seq
MIRT1202034	hsa-miR-4717-3p	CLIP-seq
MIRT1202035	hsa-miR-4802-3p	CLIP-seq
MIRT1202036	hsa-miR-490-5p	CLIP-seq
MIRT1202037	hsa-miR-548v	CLIP-seq
MIRT1202038	hsa-miR-876-5p	CLIP-seq
MIRT1202039	hsa-miR-105	CLIP-seq
MIRT1202040	hsa-miR-1225-5p	CLIP-seq
MIRT1202014	hsa-miR-1246	CLIP-seq
MIRT1202041	hsa-miR-1261	CLIP-seq
MIRT1202015	hsa-miR-1287	CLIP-seq
MIRT1202016	hsa-miR-1290	CLIP-seq
MIRT1202042	hsa-miR-133a	CLIP-seq
MIRT1202043	hsa-miR-133b	CLIP-seq
MIRT1202044	hsa-miR-18a	CLIP-seq
MIRT1202045	hsa-miR-18b	CLIP-seq
MIRT1202018	hsa-miR-197	CLIP-seq
MIRT1202046	hsa-miR-199a-5p	CLIP-seq
MIRT1202047	hsa-miR-199b-5p	CLIP-seq
MIRT1202048	hsa-miR-2113	CLIP-seq
MIRT1202049	hsa-miR-297	CLIP-seq
MIRT1202050	hsa-miR-3124-3p	CLIP-seq
MIRT1202051	hsa-miR-3132	CLIP-seq
MIRT1202020	hsa-miR-3135b	CLIP-seq
MIRT1202052	hsa-miR-3149	CLIP-seq
MIRT1202053	hsa-miR-3162-3p	CLIP-seq
MIRT1202021	hsa-miR-3167	CLIP-seq
MIRT1202054	hsa-miR-3170	CLIP-seq
MIRT1202055	hsa-miR-3176	CLIP-seq
MIRT1202056	hsa-miR-3201	CLIP-seq
MIRT1202057	hsa-miR-323-5p	CLIP-seq
MIRT1202058	hsa-miR-342-5p	CLIP-seq
MIRT1202059	hsa-miR-34b	CLIP-seq
MIRT1202060	hsa-miR-3646	CLIP-seq
MIRT1202061	hsa-miR-3679-3p	CLIP-seq
MIRT1202062	hsa-miR-3682-5p	CLIP-seq
MIRT1202063	hsa-miR-3922-3p	CLIP-seq
MIRT1202064	hsa-miR-411	CLIP-seq
MIRT1202065	hsa-miR-4257	CLIP-seq
MIRT1202066	hsa-miR-4275	CLIP-seq
MIRT1202067	hsa-miR-4312	CLIP-seq
MIRT1202068	hsa-miR-4446-5p	CLIP-seq
MIRT1202069	hsa-miR-4456	CLIP-seq
MIRT1202070	hsa-miR-4651	CLIP-seq
MIRT1202071	hsa-miR-4664-5p	CLIP-seq
MIRT1202034	hsa-miR-4717-3p	CLIP-seq
MIRT1202072	hsa-miR-4719	CLIP-seq
MIRT1202073	hsa-miR-4724-3p	CLIP-seq
MIRT1202074	hsa-miR-4735-3p	CLIP-seq
MIRT1202075	hsa-miR-4754	CLIP-seq
MIRT1202076	hsa-miR-4755-5p	CLIP-seq
MIRT1202077	hsa-miR-4791	CLIP-seq
MIRT1202078	hsa-miR-4796-5p	CLIP-seq
MIRT1202035	hsa-miR-4802-3p	CLIP-seq
MIRT1202036	hsa-miR-490-5p	CLIP-seq
MIRT1202079	hsa-miR-500a	CLIP-seq
MIRT1202080	hsa-miR-5095	CLIP-seq
MIRT1202081	hsa-miR-552	CLIP-seq
MIRT1202082	hsa-miR-608	CLIP-seq
MIRT1202083	hsa-miR-634	CLIP-seq
MIRT1202084	hsa-miR-636	CLIP-seq
MIRT1202085	hsa-miR-643	CLIP-seq
MIRT1202086	hsa-miR-658	CLIP-seq
MIRT1202087	hsa-miR-758	CLIP-seq
MIRT1202088	hsa-miR-876-3p	CLIP-seq
MIRT1202038	hsa-miR-876-5p	CLIP-seq
MIRT2058316	hsa-miR-106a	CLIP-seq
MIRT2058317	hsa-miR-106b	CLIP-seq
MIRT2058318	hsa-miR-1197	CLIP-seq
MIRT1202014	hsa-miR-1246	CLIP-seq
MIRT1202016	hsa-miR-1290	CLIP-seq
MIRT2058319	hsa-miR-137	CLIP-seq
MIRT2058320	hsa-miR-17	CLIP-seq
MIRT1202017	hsa-miR-1910	CLIP-seq
MIRT1202018	hsa-miR-197	CLIP-seq
MIRT1202046	hsa-miR-199a-5p	CLIP-seq
MIRT1202047	hsa-miR-199b-5p	CLIP-seq
MIRT2058321	hsa-miR-20a	CLIP-seq
MIRT2058322	hsa-miR-20b	CLIP-seq
MIRT2058323	hsa-miR-2114	CLIP-seq
MIRT2058324	hsa-miR-2115	CLIP-seq
MIRT2058325	hsa-miR-2682	CLIP-seq
MIRT2058326	hsa-miR-302a	CLIP-seq
MIRT2058327	hsa-miR-302b	CLIP-seq
MIRT2058328	hsa-miR-302c	CLIP-seq
MIRT2058329	hsa-miR-302d	CLIP-seq
MIRT2058330	hsa-miR-302e	CLIP-seq
MIRT2058331	hsa-miR-30a	CLIP-seq
MIRT2058332	hsa-miR-30b	CLIP-seq
MIRT2058333	hsa-miR-30c	CLIP-seq
MIRT2058334	hsa-miR-30d	CLIP-seq
MIRT2058335	hsa-miR-30e	CLIP-seq
MIRT2058336	hsa-miR-3156-5p	CLIP-seq
MIRT1202021	hsa-miR-3167	CLIP-seq
MIRT1202022	hsa-miR-3173-3p	CLIP-seq
MIRT2058337	hsa-miR-365	CLIP-seq
MIRT1202023	hsa-miR-3689d	CLIP-seq
MIRT1202024	hsa-miR-370	CLIP-seq
MIRT2058338	hsa-miR-372	CLIP-seq
MIRT2058339	hsa-miR-373	CLIP-seq
MIRT1202025	hsa-miR-3915	CLIP-seq
MIRT1202026	hsa-miR-3928	CLIP-seq
MIRT2058340	hsa-miR-3973	CLIP-seq
MIRT2058341	hsa-miR-4268	CLIP-seq
MIRT2058342	hsa-miR-4320	CLIP-seq
MIRT2058343	hsa-miR-4330	CLIP-seq
MIRT2058344	hsa-miR-4448	CLIP-seq
MIRT1202028	hsa-miR-4476	CLIP-seq
MIRT2058345	hsa-miR-4495	CLIP-seq
MIRT2058346	hsa-miR-449c	CLIP-seq
MIRT2058347	hsa-miR-4521	CLIP-seq
MIRT1202029	hsa-miR-4533	CLIP-seq
MIRT1202030	hsa-miR-455-3p	CLIP-seq
MIRT1202033	hsa-miR-4663	CLIP-seq
MIRT2058348	hsa-miR-4695-3p	CLIP-seq
MIRT2058349	hsa-miR-4705	CLIP-seq
MIRT1202034	hsa-miR-4717-3p	CLIP-seq
MIRT2058350	hsa-miR-4747-5p	CLIP-seq
MIRT2058351	hsa-miR-4764-3p	CLIP-seq
MIRT1202035	hsa-miR-4802-3p	CLIP-seq
MIRT2058352	hsa-miR-486-5p	CLIP-seq
MIRT1202036	hsa-miR-490-5p	CLIP-seq
MIRT2058353	hsa-miR-502-5p	CLIP-seq
MIRT2058354	hsa-miR-508-3p	CLIP-seq
MIRT2058355	hsa-miR-516a-3p	CLIP-seq
MIRT2058356	hsa-miR-519d	CLIP-seq
MIRT2058357	hsa-miR-520a-3p	CLIP-seq
MIRT2058358	hsa-miR-520b	CLIP-seq
MIRT2058359	hsa-miR-520c-3p	CLIP-seq
MIRT2058360	hsa-miR-520d-3p	CLIP-seq
MIRT2058361	hsa-miR-520e	CLIP-seq
MIRT2058362	hsa-miR-520f	CLIP-seq
MIRT2058363	hsa-miR-520g	CLIP-seq
MIRT2058364	hsa-miR-520h	CLIP-seq
MIRT2058365	hsa-miR-548t	CLIP-seq
MIRT2058366	hsa-miR-618	CLIP-seq
MIRT2058367	hsa-miR-633	CLIP-seq
MIRT1202084	hsa-miR-636	CLIP-seq
MIRT2058368	hsa-miR-645	CLIP-seq
MIRT1202038	hsa-miR-876-5p	CLIP-seq
MIRT2058369	hsa-miR-888	CLIP-seq
MIRT2058370	hsa-miR-93	CLIP-seq
MIRT2058316	hsa-miR-106a	CLIP-seq
MIRT2058317	hsa-miR-106b	CLIP-seq
MIRT2058320	hsa-miR-17	CLIP-seq
MIRT2058321	hsa-miR-20a	CLIP-seq
MIRT2058322	hsa-miR-20b	CLIP-seq
MIRT2058325	hsa-miR-2682	CLIP-seq
MIRT2058346	hsa-miR-449c	CLIP-seq
MIRT2058356	hsa-miR-519d	CLIP-seq
MIRT2058363	hsa-miR-520g	CLIP-seq
MIRT2058364	hsa-miR-520h	CLIP-seq
MIRT2058370	hsa-miR-93	CLIP-seq
MIRT2058325	hsa-miR-2682	CLIP-seq
MIRT1202061	hsa-miR-3679-3p	CLIP-seq
MIRT2058343	hsa-miR-4330	CLIP-seq
MIRT2058346	hsa-miR-449c	CLIP-seq
MIRT1202073	hsa-miR-4724-3p	CLIP-seq
MIRT1202084	hsa-miR-636	CLIP-seq
MIRT2058368	hsa-miR-645	CLIP-seq
MIRT2058316	hsa-miR-106a	CLIP-seq
MIRT2058317	hsa-miR-106b	CLIP-seq
MIRT2391860	hsa-miR-130a	CLIP-seq
MIRT2391861	hsa-miR-130b	CLIP-seq
MIRT2058320	hsa-miR-17	CLIP-seq
MIRT2058321	hsa-miR-20a	CLIP-seq
MIRT2058322	hsa-miR-20b	CLIP-seq
MIRT2391862	hsa-miR-301a	CLIP-seq
MIRT2391863	hsa-miR-301b	CLIP-seq
MIRT2391864	hsa-miR-3179	CLIP-seq
MIRT2391865	hsa-miR-3202	CLIP-seq
MIRT2391866	hsa-miR-3666	CLIP-seq
MIRT2391867	hsa-miR-3936	CLIP-seq
MIRT2391868	hsa-miR-4295	CLIP-seq
MIRT2391869	hsa-miR-454	CLIP-seq
MIRT1202070	hsa-miR-4651	CLIP-seq
MIRT2391870	hsa-miR-519a	CLIP-seq
MIRT2391871	hsa-miR-519b-3p	CLIP-seq
MIRT2391872	hsa-miR-519c-3p	CLIP-seq
MIRT2058356	hsa-miR-519d	CLIP-seq
MIRT2058365	hsa-miR-548t	CLIP-seq
MIRT1202082	hsa-miR-608	CLIP-seq
MIRT2058370	hsa-miR-93	CLIP-seq
MIRT2058331	hsa-miR-30a	CLIP-seq
MIRT2058332	hsa-miR-30b	CLIP-seq
MIRT2058333	hsa-miR-30c	CLIP-seq
MIRT2058334	hsa-miR-30d	CLIP-seq
MIRT2058335	hsa-miR-30e	CLIP-seq
MIRT2058337	hsa-miR-365	CLIP-seq
MIRT2058341	hsa-miR-4268	CLIP-seq
MIRT2058344	hsa-miR-4448	CLIP-seq
MIRT2058345	hsa-miR-4495	CLIP-seq
MIRT2686783	hsa-miR-4742-5p	CLIP-seq
MIRT2686784	hsa-miR-4797-5p	CLIP-seq
MIRT2058352	hsa-miR-486-5p	CLIP-seq
MIRT2058353	hsa-miR-502-5p	CLIP-seq
MIRT2058354	hsa-miR-508-3p	CLIP-seq

Show/Hide all (64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001750	Component	Photoreceptor outer segment	IDA	22543976
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	TAS	7761412
GO:0004445	Function	Inositol-polyphosphate 5-phosphatase activity	IEA
GO:0005096	Function	GTPase activator activity	IDA	12915445
GO:0005515	Function	Protein binding	IPI	12915445, 16902405, 19536138, 21233288, 21378754, 22543976, 25107275, 25869668, 26496610, 26824392, 27107012, 28514442, 29125462, 30905672, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	12915445
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12915445
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	21233288, 25869668
GO:0005794	Component	Golgi apparatus	IEA
GO:0005795	Component	Golgi stack	TAS	1840503
GO:0005798	Component	Golgi-associated vesicle	TAS	1840503
GO:0005802	Component	Trans-Golgi network	IDA	12915445
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	12915445
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	NAS	1321346
GO:0006629	Process	Lipid metabolic process	TAS	7761412
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030136	Component	Clathrin-coated vesicle	IDA	21233288, 25869668
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031267	Function	Small GTPase binding	IPI	12915445
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0034593	Function	Phosphatidylinositol bisphosphate phosphatase activity	IEA
GO:0034595	Function	Phosphatidylinositol phosphate 5-phosphatase activity	IEA
GO:0034596	Function	Phosphatidylinositol phosphate 4-phosphatase activity	TAS
GO:0036064	Component	Ciliary basal body	IDA
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043647	Process	Inositol phosphate metabolic process	IEA
GO:0043647	Process	Inositol phosphate metabolic process	TAS
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	TAS
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0052658	Function	Inositol-1,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0052658	Function	Inositol-1,4,5-trisphosphate 5-phosphatase activity	TAS
GO:0052659	Function	Inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	IEA
GO:0052745	Function	Inositol phosphate phosphatase activity	IDA	25869668
GO:0052745	Function	Inositol phosphate phosphatase activity	IEA
GO:0052745	Function	Inositol phosphate phosphatase activity	NAS	1321346
GO:0060271	Process	Cilium assembly	IMP	22228094, 22543976
GO:0061024	Process	Membrane organization	TAS

MIM	HGNC	e!Ensembl
300535	8108	ENSG00000122126

Q01968

Protein name

Inositol polyphosphate 5-phosphatase OCRL (EC 3.1.3.36) (EC 3.1.3.56) (Inositol polyphosphate 5-phosphatase OCRL-1) (OCRL-1) (Lowe oculocerebrorenal syndrome protein) (Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase) (EC 3.1.3.86)

Protein function

Catalyzes the hydrolysis of the 5-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:10764

PDB

2KIE , 2QV2 , 3QBT , 3QIS , 4CMN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16726	OCRL_clath_bd	18 → 118	Inositol polyphosphate 5-phosphatase clathrin binding domain	Domain
PF03372	Exo_endo_phos	245 → 524	Endonuclease/Exonuclease/phosphatase family	Domain
PF00620	RhoGAP	735 → 878	RhoGAP domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium. {ECO:0000269|PubMed:22543976}.

Sequence

MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINS
HFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQ
LLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPP
PFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTF
RFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMA
VERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAV
RFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWL
GDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYD
SKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDE
RRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFS
FIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLH
LDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEEDSFLEKEKSLLQM
VPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETI
PGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLM
AFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEE
D

Sequence length

901

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system		Synthesis of PIPs at the plasma membrane Synthesis of PIPs at the Golgi membrane Synthesis of IP2, IP, and Ins in the cytosol Synthesis of IP3 and IP4 in the cytosol Rho GTPase cycle Golgi Associated Vesicle Biogenesis Clathrin-mediated endocytosis

812

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dent disease	Likely pathogenic	rs2521906486, rs398123289	RCV002308512 RCV002510447
Dent disease type 2	Likely pathogenic; Pathogenic	rs2124405779, rs2124419087, rs2124417909, rs2124392540, rs2124410812, rs2521838917, rs2521943150, rs2521838949, rs387906484, rs137853262, rs137853263, rs776743373, rs2521906062, rs2521889422, rs2521873170 View all (13 more)	RCV002479582 RCV005042508 RCV002249115 RCV002250163 RCV002250164 RCV002789967 RCV002790044 RCV003226111 RCV002496327 RCV000011607 RCV000011608 RCV000590981 RCV003233044 RCV003237319 RCV003991352 RCV001543673 RCV000022864 RCV000022865 RCV000662294 RCV006249671 RCV005046987 RCV000851318 RCV000059593 RCV005042183 RCV001200920 RCV002504318 RCV001251424 RCV001328163
Developmental cataract	Pathogenic	rs2124446919	RCV001763536
Lowe syndrome	Pathogenic; Likely pathogenic	rs2124404113, rs2124409486, rs2124404136, rs2124402634, rs2124429175, rs2124404743, rs2124418946, rs2124412861, rs2124412937, rs2124404250, rs2124405779, rs2124428298, rs2124430527, rs2124419087, rs2124402639 View all (61 more)	RCV001387353 RCV001387031 RCV001420679 RCV001526506 RCV001526507 RCV001730046 RCV001754578 RCV001849667 RCV001960629 RCV001917432 RCV001950771 RCV001977225 RCV002040470 RCV001925739 RCV001967689 RCV001956495 RCV002250972 RCV002471387 RCV002472245 RCV003041481 RCV001380038 RCV001852169 RCV002510697 RCV002791887 RCV002870808 RCV002875659 RCV002889535 RCV002872306 RCV002903369 RCV003025651 RCV003151704 RCV003224765 RCV000011604 RCV000011605 RCV000011606 RCV000059607 RCV001855009 RCV002510570 RCV000590981 RCV003314274 RCV003388760 RCV003444434 RCV003511020 RCV003509373 RCV003510104 RCV003622649 RCV003622913 RCV003623439 RCV003622371 RCV003985218 RCV003988750 RCV004547385 RCV004595848 RCV000408904 RCV000541094 RCV000591698 RCV000680054 RCV000687544 RCV000701856 RCV000768436 RCV000791535 RCV000806128 RCV000794610 RCV000814175 RCV000824979 RCV000850186 RCV000850187 RCV000059600 RCV000059601 RCV000059605 RCV001029771 RCV001049745 RCV001036352 RCV001095682 RCV001172281 RCV001234126 RCV001264796
Nephrolithiasis/nephrocalcinosis	Likely pathogenic; Pathogenic	rs2124417909, rs1182741031	RCV004060582 RCV004025269
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs776743373	RCV002274006
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2124428298, rs2124417909, rs2124430527, rs398123289	RCV005925423 RCV005930051 RCV005931979 RCV005886181
OCRL-related disorder	Likely pathogenic; Pathogenic	rs2124405779, rs137853263, rs2521872975	RCV005868491 RCV004752699 RCV003408613
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2124430527, rs398123289, rs2521889422, rs137853263, rs1936163310	RCV005931980 RCV005932000 RCV005930813 RCV005901602 RCV005909105 RCV005886182

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Congenital myopathy	Benign; Likely benign	rs773022942	RCV005622015
Epilepsy	Conflicting classifications of pathogenicity	rs61752971	RCV005625268
Genetic developmental and epileptic encephalopathy	Conflicting classifications of pathogenicity	rs61752971	RCV005625269
Intellectual developmental disorder, autosomal dominant 65	Uncertain significance	rs2521872999	RCV003986085
Intellectual disability	Benign; Likely benign	rs764804719, rs773022942	RCV005626464 RCV005622016
Lung cancer	Benign	rs2071706	RCV005925325
Uterine carcinosarcoma	Benign	rs2071706	RCV005925324

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	31484968
Acidosis Renal Tubular	Associate	15627218
Autism Spectrum Disorder	Associate	30147856, 32393163
Autistic Disorder	Associate	22965764
Bartter Syndrome	Associate	35549682
Biliary Atresia	Associate	34750413
Bipolar Disorder	Associate	30147856
Brain Diseases	Associate	35023542
Cataract	Associate	15627218, 22907655, 28473699, 30713423, 37189363, 9199559
Congenital Abnormalities	Associate	29444177
Death	Associate	31376231
Dent Disease	Associate	15627218, 18480301, 20133602, 21031565, 23047739, 25107275, 26108450, 27174143, 32495484, 32533415, 32666344, 33430795, 34069732, 34680992, 35098431, 35612621, 39582457 View all (2 more)
Dent Disease 2	Associate	21031565, 21233288, 21666675, 23047739, 23947751, 32666344, 33430795, 35098431, 35549682, 35919034
Developmental Disabilities	Associate	34047002
Fanconi Syndrome	Associate	25485598, 33430795, 9199559
Genetic Diseases Inborn	Associate	30650973
Genetic Diseases X Linked	Associate	16902405
Glaucoma	Associate	28473699
Glaucoma 3 Primary Congenital A	Associate	28473699
Glioblastoma	Associate	25502460
Glycosuria Renal	Associate	21233288
Hypercalciuria	Associate	18480301
Hypokalemia Familial	Associate	21031565
Intellectual Disability	Associate	15627218, 22907655, 37189363, 9199559
Kidney Diseases	Associate	28117080, 37189363, 39294589
Leigh Disease	Associate	29444177
Leukemia	Associate	37172724
Meningitis Listeria	Associate	22351770
Mental Disorders	Associate	15627218
Mitochondrial Diseases	Associate	37172724
Nephrocalcinosis	Associate	18480301, 35612621
Nephrotic Syndrome	Associate	28117080
Nervous System Diseases	Associate	28473699
Nervous System Malformations	Associate	21233288
Neurologic Manifestations	Associate	15627218
Oculocerebral hypopigmentation syndrome type Preus	Associate	32340490
Oculocerebrorenal Syndrome	Associate	10364518, 12428211, 15627218, 16902405, 18480301, 19773212, 20133602, 21031565, 21233288, 21378754, 21448331, 21666675, 22907655, 23047739, 23947751 View all (28 more)
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Stimulate	37172724
Proteinuria	Associate	18480301, 24614960, 31676724, 33430795
Renal Insufficiency	Associate	28473699
Renal Insufficiency Chronic	Associate	35549682
Retinitis	Associate	28473699
Sarcoma Ewing	Associate	34680992
Schizophrenia	Associate	30147856
SeSAME syndrome	Associate	22907655

OCRL (OCRL inositol polyphosphate-5-phosphatase)