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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23396
Gene name	Phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Gene symbol	PIP5K1C
Synonyms (NCBI Gene)	LCCS3PIP5K-GAMMAPIP5K1-gammaPIP5Kgamma
Chromosome	19
Chromosome location	19p13.3
Summary	This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121908315	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant

393

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miRTarBase ID	miRNA	Experiments	Reference
MIRT027379	hsa-miR-101-3p	Sequencing	20371350
MIRT028353	hsa-miR-32-5p	Sequencing	20371350
MIRT030015	hsa-miR-26b-5p	Microarray	19088304
MIRT041364	hsa-miR-193b-3p	CLASH	23622248
MIRT723217	hsa-miR-1197	HITS-CLIP	19536157
MIRT723216	hsa-miR-4436a	HITS-CLIP	19536157
MIRT723215	hsa-miR-5000-3p	HITS-CLIP	19536157
MIRT723214	hsa-miR-3664-3p	HITS-CLIP	19536157
MIRT723213	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT723212	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT723211	hsa-miR-6815-3p	HITS-CLIP	19536157
MIRT723210	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT723209	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT555600	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT555599	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT028353	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT555598	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT555597	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT555596	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT555595	hsa-miR-496	PAR-CLIP	21572407
MIRT555594	hsa-miR-6871-5p	PAR-CLIP	21572407
MIRT555593	hsa-miR-4787-5p	PAR-CLIP	21572407
MIRT555592	hsa-miR-1199-5p	PAR-CLIP	21572407
MIRT555591	hsa-miR-6751-3p	PAR-CLIP	21572407
MIRT555590	hsa-miR-5705	PAR-CLIP	21572407
MIRT555589	hsa-miR-6727-5p	PAR-CLIP	21572407
MIRT555588	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT555587	hsa-miR-7703	PAR-CLIP	21572407
MIRT555586	hsa-miR-4325	PAR-CLIP	21572407
MIRT555600	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT555596	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028353	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT723217	hsa-miR-1197	HITS-CLIP	19536157
MIRT723216	hsa-miR-4436a	HITS-CLIP	19536157
MIRT723215	hsa-miR-5000-3p	HITS-CLIP	19536157
MIRT723214	hsa-miR-3664-3p	HITS-CLIP	19536157
MIRT723213	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT723212	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT723211	hsa-miR-6815-3p	HITS-CLIP	19536157
MIRT723210	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT723209	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT555600	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT555599	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT028353	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT555598	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT555597	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT555596	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT555595	hsa-miR-496	PAR-CLIP	21572407
MIRT555594	hsa-miR-6871-5p	PAR-CLIP	21572407
MIRT555593	hsa-miR-4787-5p	PAR-CLIP	21572407
MIRT555592	hsa-miR-1199-5p	PAR-CLIP	21572407
MIRT555591	hsa-miR-6751-3p	PAR-CLIP	21572407
MIRT555590	hsa-miR-5705	PAR-CLIP	21572407
MIRT555589	hsa-miR-6727-5p	PAR-CLIP	21572407
MIRT555588	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT555587	hsa-miR-7703	PAR-CLIP	21572407
MIRT555586	hsa-miR-4325	PAR-CLIP	21572407
MIRT755990	hsa-miR-4649-5p	Luciferase reporter assayWestern blottingqRT-PCR	37803350
MIRT1235906	hsa-miR-101	CLIP-seq
MIRT1235907	hsa-miR-1207-5p	CLIP-seq
MIRT1235908	hsa-miR-122	CLIP-seq
MIRT1235909	hsa-miR-1252	CLIP-seq
MIRT1235910	hsa-miR-1256	CLIP-seq
MIRT1235911	hsa-miR-1260	CLIP-seq
MIRT1235912	hsa-miR-1260b	CLIP-seq
MIRT1235913	hsa-miR-1275	CLIP-seq
MIRT1235914	hsa-miR-1292	CLIP-seq
MIRT1235915	hsa-miR-1321	CLIP-seq
MIRT1235916	hsa-miR-143	CLIP-seq
MIRT1235917	hsa-miR-144	CLIP-seq
MIRT1235918	hsa-miR-188-3p	CLIP-seq
MIRT1235919	hsa-miR-208a	CLIP-seq
MIRT1235920	hsa-miR-208b	CLIP-seq
MIRT1235921	hsa-miR-25	CLIP-seq
MIRT1235922	hsa-miR-2681	CLIP-seq
MIRT1235923	hsa-miR-3150b-3p	CLIP-seq
MIRT1235924	hsa-miR-3156-3p	CLIP-seq
MIRT1235925	hsa-miR-3191	CLIP-seq
MIRT1235926	hsa-miR-32	CLIP-seq
MIRT1235927	hsa-miR-324-5p	CLIP-seq
MIRT1235928	hsa-miR-3617	CLIP-seq
MIRT1235929	hsa-miR-363	CLIP-seq
MIRT1235930	hsa-miR-3663-3p	CLIP-seq
MIRT1235931	hsa-miR-367	CLIP-seq
MIRT1235932	hsa-miR-3689d	CLIP-seq
MIRT1235933	hsa-miR-3913-3p	CLIP-seq
MIRT1235934	hsa-miR-3921	CLIP-seq
MIRT1235935	hsa-miR-3945	CLIP-seq
MIRT1235936	hsa-miR-4253	CLIP-seq
MIRT1235937	hsa-miR-4270	CLIP-seq
MIRT1235938	hsa-miR-4278	CLIP-seq
MIRT1235939	hsa-miR-4292	CLIP-seq
MIRT1235940	hsa-miR-4303	CLIP-seq
MIRT1235941	hsa-miR-4308	CLIP-seq
MIRT1235942	hsa-miR-4424	CLIP-seq
MIRT1235943	hsa-miR-4441	CLIP-seq
MIRT1235944	hsa-miR-4446-3p	CLIP-seq
MIRT1235945	hsa-miR-4447	CLIP-seq
MIRT1235946	hsa-miR-4450	CLIP-seq
MIRT1235947	hsa-miR-4464	CLIP-seq
MIRT1235948	hsa-miR-4472	CLIP-seq
MIRT1235949	hsa-miR-4474-5p	CLIP-seq
MIRT1235950	hsa-miR-4520a-3p	CLIP-seq
MIRT1235951	hsa-miR-4520b-3p	CLIP-seq
MIRT1235952	hsa-miR-4525	CLIP-seq
MIRT1235953	hsa-miR-4529-3p	CLIP-seq
MIRT1235954	hsa-miR-4642	CLIP-seq
MIRT1235955	hsa-miR-4645-3p	CLIP-seq
MIRT1235956	hsa-miR-4653-3p	CLIP-seq
MIRT1235957	hsa-miR-4653-5p	CLIP-seq
MIRT1235958	hsa-miR-4665-5p	CLIP-seq
MIRT1235959	hsa-miR-4675	CLIP-seq
MIRT1235960	hsa-miR-4678	CLIP-seq
MIRT1235961	hsa-miR-4689	CLIP-seq
MIRT1235962	hsa-miR-4699-3p	CLIP-seq
MIRT1235963	hsa-miR-4700-3p	CLIP-seq
MIRT1235964	hsa-miR-4716-3p	CLIP-seq
MIRT1235965	hsa-miR-4723-5p	CLIP-seq
MIRT1235966	hsa-miR-4736	CLIP-seq
MIRT1235967	hsa-miR-4739	CLIP-seq
MIRT1235968	hsa-miR-4741	CLIP-seq
MIRT1235969	hsa-miR-4748	CLIP-seq
MIRT1235970	hsa-miR-4751	CLIP-seq
MIRT1235971	hsa-miR-4756-5p	CLIP-seq
MIRT1235972	hsa-miR-4763-3p	CLIP-seq
MIRT1235973	hsa-miR-4770	CLIP-seq
MIRT1235974	hsa-miR-4784	CLIP-seq
MIRT1235975	hsa-miR-4795-5p	CLIP-seq
MIRT1235976	hsa-miR-499-3p	CLIP-seq
MIRT1235977	hsa-miR-499-5p	CLIP-seq
MIRT1235978	hsa-miR-499a-3p	CLIP-seq
MIRT1235979	hsa-miR-499a-5p	CLIP-seq
MIRT1235980	hsa-miR-566	CLIP-seq
MIRT1235981	hsa-miR-579	CLIP-seq
MIRT1235982	hsa-miR-582-5p	CLIP-seq
MIRT1235983	hsa-miR-625	CLIP-seq
MIRT1235984	hsa-miR-637	CLIP-seq
MIRT1235985	hsa-miR-641	CLIP-seq
MIRT1235986	hsa-miR-7	CLIP-seq
MIRT1235987	hsa-miR-765	CLIP-seq
MIRT1235988	hsa-miR-92a	CLIP-seq
MIRT1235989	hsa-miR-92b	CLIP-seq
MIRT1235906	hsa-miR-101	CLIP-seq
MIRT1235908	hsa-miR-122	CLIP-seq
MIRT1235990	hsa-miR-1228	CLIP-seq
MIRT1235910	hsa-miR-1256	CLIP-seq
MIRT1235914	hsa-miR-1292	CLIP-seq
MIRT1235991	hsa-miR-1301	CLIP-seq
MIRT1235916	hsa-miR-143	CLIP-seq
MIRT1235917	hsa-miR-144	CLIP-seq
MIRT1235992	hsa-miR-185	CLIP-seq
MIRT1235993	hsa-miR-18a	CLIP-seq
MIRT1235994	hsa-miR-18b	CLIP-seq
MIRT1235995	hsa-miR-1909	CLIP-seq
MIRT1235996	hsa-miR-2110	CLIP-seq
MIRT1235997	hsa-miR-2115	CLIP-seq
MIRT1235998	hsa-miR-214	CLIP-seq
MIRT1235999	hsa-miR-219-5p	CLIP-seq
MIRT1235921	hsa-miR-25	CLIP-seq
MIRT1236000	hsa-miR-3125	CLIP-seq
MIRT1236001	hsa-miR-3138	CLIP-seq
MIRT1236002	hsa-miR-3144-5p	CLIP-seq
MIRT1236003	hsa-miR-3150a-3p	CLIP-seq
MIRT1235923	hsa-miR-3150b-3p	CLIP-seq
MIRT1236004	hsa-miR-3155	CLIP-seq
MIRT1236005	hsa-miR-3155b	CLIP-seq
MIRT1236006	hsa-miR-3180	CLIP-seq
MIRT1236007	hsa-miR-3180-3p	CLIP-seq
MIRT1236008	hsa-miR-3187-3p	CLIP-seq
MIRT1235925	hsa-miR-3191	CLIP-seq
MIRT1236009	hsa-miR-3194-3p	CLIP-seq
MIRT1236010	hsa-miR-3196	CLIP-seq
MIRT1236011	hsa-miR-3199	CLIP-seq
MIRT1235926	hsa-miR-32	CLIP-seq
MIRT1236012	hsa-miR-3619-5p	CLIP-seq
MIRT1235929	hsa-miR-363	CLIP-seq
MIRT1235931	hsa-miR-367	CLIP-seq
MIRT1236013	hsa-miR-370	CLIP-seq
MIRT1236014	hsa-miR-3916	CLIP-seq
MIRT1236015	hsa-miR-3940-5p	CLIP-seq
MIRT1236016	hsa-miR-3942-3p	CLIP-seq
MIRT1236017	hsa-miR-3944-5p	CLIP-seq
MIRT1235935	hsa-miR-3945	CLIP-seq
MIRT1235936	hsa-miR-4253	CLIP-seq
MIRT1236018	hsa-miR-4257	CLIP-seq
MIRT1236019	hsa-miR-4264	CLIP-seq
MIRT1236020	hsa-miR-4267	CLIP-seq
MIRT1236021	hsa-miR-4271	CLIP-seq
MIRT1236022	hsa-miR-4306	CLIP-seq
MIRT1236023	hsa-miR-4328	CLIP-seq
MIRT1236024	hsa-miR-4435	CLIP-seq
MIRT1236025	hsa-miR-4436b-5p	CLIP-seq
MIRT1236026	hsa-miR-4459	CLIP-seq
MIRT1235949	hsa-miR-4474-5p	CLIP-seq
MIRT1236027	hsa-miR-4507	CLIP-seq
MIRT1236028	hsa-miR-4515	CLIP-seq
MIRT1235950	hsa-miR-4520a-3p	CLIP-seq
MIRT1235951	hsa-miR-4520b-3p	CLIP-seq
MIRT1235953	hsa-miR-4529-3p	CLIP-seq
MIRT1236029	hsa-miR-4529-5p	CLIP-seq
MIRT1235954	hsa-miR-4642	CLIP-seq
MIRT1236030	hsa-miR-4644	CLIP-seq
MIRT1236031	hsa-miR-4652-5p	CLIP-seq
MIRT1236032	hsa-miR-4660	CLIP-seq
MIRT1235961	hsa-miR-4689	CLIP-seq
MIRT1235963	hsa-miR-4700-3p	CLIP-seq
MIRT1236033	hsa-miR-4701-5p	CLIP-seq
MIRT1236034	hsa-miR-4725-3p	CLIP-seq
MIRT1236035	hsa-miR-4727-5p	CLIP-seq
MIRT1236036	hsa-miR-4733-3p	CLIP-seq
MIRT1236037	hsa-miR-4735-3p	CLIP-seq
MIRT1236038	hsa-miR-4755-3p	CLIP-seq
MIRT1236039	hsa-miR-4769-3p	CLIP-seq
MIRT1235973	hsa-miR-4770	CLIP-seq
MIRT1236040	hsa-miR-4779	CLIP-seq
MIRT1236041	hsa-miR-4782-3p	CLIP-seq
MIRT1235974	hsa-miR-4784	CLIP-seq
MIRT1235975	hsa-miR-4795-5p	CLIP-seq
MIRT1236042	hsa-miR-4797-3p	CLIP-seq
MIRT1236043	hsa-miR-484	CLIP-seq
MIRT1236044	hsa-miR-5047	CLIP-seq
MIRT1236045	hsa-miR-508-5p	CLIP-seq
MIRT1236046	hsa-miR-515-5p	CLIP-seq
MIRT1236047	hsa-miR-516b	CLIP-seq
MIRT1236048	hsa-miR-548c-3p	CLIP-seq
MIRT1236049	hsa-miR-548s	CLIP-seq
MIRT1235982	hsa-miR-582-5p	CLIP-seq
MIRT1236050	hsa-miR-588	CLIP-seq
MIRT1235983	hsa-miR-625	CLIP-seq
MIRT1236051	hsa-miR-658	CLIP-seq
MIRT1236052	hsa-miR-662	CLIP-seq
MIRT1236053	hsa-miR-665	CLIP-seq
MIRT1235986	hsa-miR-7	CLIP-seq
MIRT1236054	hsa-miR-760	CLIP-seq
MIRT1236055	hsa-miR-761	CLIP-seq
MIRT1236056	hsa-miR-766	CLIP-seq
MIRT1235988	hsa-miR-92a	CLIP-seq
MIRT1235989	hsa-miR-92b	CLIP-seq
MIRT1235910	hsa-miR-1256	CLIP-seq
MIRT1235935	hsa-miR-3945	CLIP-seq
MIRT1235936	hsa-miR-4253	CLIP-seq
MIRT1235960	hsa-miR-4678	CLIP-seq
MIRT1235962	hsa-miR-4699-3p	CLIP-seq
MIRT1235906	hsa-miR-101	CLIP-seq
MIRT1236040	hsa-miR-4779	CLIP-seq
MIRT1235906	hsa-miR-101	CLIP-seq
MIRT1235907	hsa-miR-1207-5p	CLIP-seq
MIRT1235911	hsa-miR-1260	CLIP-seq
MIRT1235912	hsa-miR-1260b	CLIP-seq
MIRT1235913	hsa-miR-1275	CLIP-seq
MIRT2069433	hsa-miR-1343	CLIP-seq
MIRT1235918	hsa-miR-188-3p	CLIP-seq
MIRT2069434	hsa-miR-1908	CLIP-seq
MIRT2069435	hsa-miR-1913	CLIP-seq
MIRT2069436	hsa-miR-1976	CLIP-seq
MIRT1235998	hsa-miR-214	CLIP-seq
MIRT2069437	hsa-miR-3124-5p	CLIP-seq
MIRT1236002	hsa-miR-3144-5p	CLIP-seq
MIRT1235924	hsa-miR-3156-3p	CLIP-seq
MIRT1236008	hsa-miR-3187-3p	CLIP-seq
MIRT1235925	hsa-miR-3191	CLIP-seq
MIRT1236011	hsa-miR-3199	CLIP-seq
MIRT2069438	hsa-miR-3200-5p	CLIP-seq
MIRT2069439	hsa-miR-324-3p	CLIP-seq
MIRT2069440	hsa-miR-338-3p	CLIP-seq
MIRT2069441	hsa-miR-342-5p	CLIP-seq
MIRT2069442	hsa-miR-3616-3p	CLIP-seq
MIRT1236012	hsa-miR-3619-5p	CLIP-seq
MIRT1235932	hsa-miR-3689d	CLIP-seq
MIRT1236016	hsa-miR-3942-3p	CLIP-seq
MIRT2069443	hsa-miR-431	CLIP-seq
MIRT2069444	hsa-miR-4313	CLIP-seq
MIRT1236023	hsa-miR-4328	CLIP-seq
MIRT1236024	hsa-miR-4435	CLIP-seq
MIRT1235944	hsa-miR-4446-3p	CLIP-seq
MIRT2069445	hsa-miR-4455	CLIP-seq
MIRT2069446	hsa-miR-4469	CLIP-seq
MIRT1235952	hsa-miR-4525	CLIP-seq
MIRT1236029	hsa-miR-4529-5p	CLIP-seq
MIRT2069447	hsa-miR-4530	CLIP-seq
MIRT1235955	hsa-miR-4645-3p	CLIP-seq
MIRT755990	hsa-miR-4649-5p	CLIP-seq
MIRT2069448	hsa-miR-4651	CLIP-seq
MIRT1236031	hsa-miR-4652-5p	CLIP-seq
MIRT2069449	hsa-miR-4655-3p	CLIP-seq
MIRT2069450	hsa-miR-4664-5p	CLIP-seq
MIRT1235958	hsa-miR-4665-5p	CLIP-seq
MIRT1235959	hsa-miR-4675	CLIP-seq
MIRT2069451	hsa-miR-4697-3p	CLIP-seq
MIRT1236033	hsa-miR-4701-5p	CLIP-seq
MIRT2069452	hsa-miR-4721	CLIP-seq
MIRT2069453	hsa-miR-4722-3p	CLIP-seq
MIRT1235965	hsa-miR-4723-5p	CLIP-seq
MIRT1235966	hsa-miR-4736	CLIP-seq
MIRT2069454	hsa-miR-4740-5p	CLIP-seq
MIRT1235968	hsa-miR-4741	CLIP-seq
MIRT2069455	hsa-miR-4749-3p	CLIP-seq
MIRT1235972	hsa-miR-4763-3p	CLIP-seq
MIRT1235975	hsa-miR-4795-5p	CLIP-seq
MIRT2069456	hsa-miR-486-3p	CLIP-seq
MIRT2069457	hsa-miR-491-5p	CLIP-seq
MIRT1236046	hsa-miR-515-5p	CLIP-seq
MIRT2069458	hsa-miR-541	CLIP-seq
MIRT1236049	hsa-miR-548s	CLIP-seq
MIRT1235980	hsa-miR-566	CLIP-seq
MIRT1236050	hsa-miR-588	CLIP-seq
MIRT2069459	hsa-miR-608	CLIP-seq
MIRT1235983	hsa-miR-625	CLIP-seq
MIRT2069460	hsa-miR-644	CLIP-seq
MIRT2069461	hsa-miR-654-5p	CLIP-seq
MIRT2069462	hsa-miR-663	CLIP-seq
MIRT1236055	hsa-miR-761	CLIP-seq
MIRT1235910	hsa-miR-1256	CLIP-seq
MIRT1235913	hsa-miR-1275	CLIP-seq
MIRT1235916	hsa-miR-143	CLIP-seq
MIRT2069435	hsa-miR-1913	CLIP-seq
MIRT2069436	hsa-miR-1976	CLIP-seq
MIRT1235996	hsa-miR-2110	CLIP-seq
MIRT2296792	hsa-miR-2277-3p	CLIP-seq
MIRT1235922	hsa-miR-2681	CLIP-seq
MIRT2296793	hsa-miR-3121-3p	CLIP-seq
MIRT2069437	hsa-miR-3124-5p	CLIP-seq
MIRT1236002	hsa-miR-3144-5p	CLIP-seq
MIRT1236003	hsa-miR-3150a-3p	CLIP-seq
MIRT1236008	hsa-miR-3187-3p	CLIP-seq
MIRT1235925	hsa-miR-3191	CLIP-seq
MIRT1236011	hsa-miR-3199	CLIP-seq
MIRT2069439	hsa-miR-324-3p	CLIP-seq
MIRT2069440	hsa-miR-338-3p	CLIP-seq
MIRT2296794	hsa-miR-3937	CLIP-seq
MIRT1236015	hsa-miR-3940-5p	CLIP-seq
MIRT1236016	hsa-miR-3942-3p	CLIP-seq
MIRT1235935	hsa-miR-3945	CLIP-seq
MIRT1235936	hsa-miR-4253	CLIP-seq
MIRT1236021	hsa-miR-4271	CLIP-seq
MIRT2069443	hsa-miR-431	CLIP-seq
MIRT2069444	hsa-miR-4313	CLIP-seq
MIRT1236023	hsa-miR-4328	CLIP-seq
MIRT1236024	hsa-miR-4435	CLIP-seq
MIRT1236026	hsa-miR-4459	CLIP-seq
MIRT1235947	hsa-miR-4464	CLIP-seq
MIRT2069446	hsa-miR-4469	CLIP-seq
MIRT1235949	hsa-miR-4474-5p	CLIP-seq
MIRT1236027	hsa-miR-4507	CLIP-seq
MIRT1236028	hsa-miR-4515	CLIP-seq
MIRT1235952	hsa-miR-4525	CLIP-seq
MIRT1236029	hsa-miR-4529-5p	CLIP-seq
MIRT2069447	hsa-miR-4530	CLIP-seq
MIRT2069448	hsa-miR-4651	CLIP-seq
MIRT1236031	hsa-miR-4652-5p	CLIP-seq
MIRT2069449	hsa-miR-4655-3p	CLIP-seq
MIRT1235958	hsa-miR-4665-5p	CLIP-seq
MIRT1235960	hsa-miR-4678	CLIP-seq
MIRT2069451	hsa-miR-4697-3p	CLIP-seq
MIRT1235962	hsa-miR-4699-3p	CLIP-seq
MIRT1236033	hsa-miR-4701-5p	CLIP-seq
MIRT2069453	hsa-miR-4722-3p	CLIP-seq
MIRT1235965	hsa-miR-4723-5p	CLIP-seq
MIRT1236034	hsa-miR-4725-3p	CLIP-seq
MIRT1235969	hsa-miR-4748	CLIP-seq
MIRT2069455	hsa-miR-4749-3p	CLIP-seq
MIRT1235973	hsa-miR-4770	CLIP-seq
MIRT1236040	hsa-miR-4779	CLIP-seq
MIRT2296795	hsa-miR-4781-5p	CLIP-seq
MIRT1235975	hsa-miR-4795-5p	CLIP-seq
MIRT1235979	hsa-miR-499a-5p	CLIP-seq
MIRT1236048	hsa-miR-548c-3p	CLIP-seq
MIRT1236049	hsa-miR-548s	CLIP-seq
MIRT1235981	hsa-miR-579	CLIP-seq
MIRT1236050	hsa-miR-588	CLIP-seq
MIRT2069459	hsa-miR-608	CLIP-seq
MIRT1235983	hsa-miR-625	CLIP-seq
MIRT1236053	hsa-miR-665	CLIP-seq
MIRT1235908	hsa-miR-122	CLIP-seq
MIRT1236006	hsa-miR-3180	CLIP-seq
MIRT1236007	hsa-miR-3180-3p	CLIP-seq
MIRT1236010	hsa-miR-3196	CLIP-seq
MIRT1235927	hsa-miR-324-5p	CLIP-seq
MIRT1235939	hsa-miR-4292	CLIP-seq
MIRT1235941	hsa-miR-4308	CLIP-seq
MIRT1235954	hsa-miR-4642	CLIP-seq
MIRT1235906	hsa-miR-101	CLIP-seq
MIRT1236001	hsa-miR-3138	CLIP-seq
MIRT1236018	hsa-miR-4257	CLIP-seq
MIRT1236019	hsa-miR-4264	CLIP-seq
MIRT1236026	hsa-miR-4459	CLIP-seq
MIRT1235950	hsa-miR-4520a-3p	CLIP-seq
MIRT1235951	hsa-miR-4520b-3p	CLIP-seq
MIRT1235953	hsa-miR-4529-3p	CLIP-seq
MIRT1235963	hsa-miR-4700-3p	CLIP-seq
MIRT1236042	hsa-miR-4797-3p	CLIP-seq
MIRT1236052	hsa-miR-662	CLIP-seq
MIRT1236053	hsa-miR-665	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
EZH2	Repression	21216957

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001891	Component	Phagocytic cup	IEA
GO:0001931	Component	Uropod	IEA
GO:0001931	Component	Uropod	TAS	19889969
GO:0005515	Function	Protein binding	IPI	23982733, 25588945, 35044719
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	TAS	19889969
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0006887	Process	Exocytosis	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0006909	Process	Phagocytosis	TAS	19889969
GO:0006935	Process	Chemotaxis	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0010008	Component	Endosome membrane	IDA	25588945
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	TAS	19889969
GO:0016301	Function	Kinase activity	IEA
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	IBA
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	IEA
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0030036	Process	Actin cytoskeleton organization	TAS	19889969
GO:0030593	Process	Neutrophil chemotaxis	TAS	19889969
GO:0032587	Component	Ruffle membrane	IEA
GO:0034333	Process	Adherens junction assembly	TAS	19889969
GO:0042995	Component	Cell projection	IEA
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IBA
GO:0048488	Process	Synaptic vesicle endocytosis	TAS	19889969
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS
GO:0052742	Function	Phosphatidylinositol kinase activity	IEA
GO:0052742	Function	Phosphatidylinositol kinase activity	TAS
GO:0061024	Process	Membrane organization	TAS
GO:0070161	Component	Anchoring junction	IEA
GO:0072583	Process	Clathrin-dependent endocytosis	TAS	19889969
GO:0098609	Process	Cell-cell adhesion	TAS	19889969
GO:0098793	Component	Presynapse	IEA

MIM	HGNC	e!Ensembl
606102	8996	ENSG00000186111

O60331

Protein name

Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma (PIP5K1gamma) (PtdIns(4)P-5-kinase 1 gamma) (EC 2.7.1.68) (Type I phosphatidylinositol 4-phosphate 5-kinase gamma)

Protein function

Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns(4)P/PI4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2/PIP2), a lipid second messenger that regulates several cellular processes such as signal transductio

PDB

2G35 , 3H1Z , 3H85

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01504	PIP5K	160 → 442	Phosphatidylinositol-4-phosphate 5-Kinase	Family

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Isoform 1 is strongly expressed in brain and also detected in heart and lung. {ECO:0000269|PubMed:19548880}.; TISSUE SPECIFICITY: [Isoform 2]: Isoform 2 is strongly expressed in pancreas and liver and in lesser quantities

Sequence

MELEVPDEAESAEAGAVPSEAAWAAESGAAAGLAQKKAAPTEVLSMTAQPGPGHGKKLGH
RGVDASGETTYKKTTSSTLKGAIQLGIGYTVGHLSSKPERDVLMQDFYVVESIFFPSEGS
NLTPAHHFQDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCNEPLIELSNPGASGSLFYVT
SDDEFIIKTVMHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQSGGKNIRVVVMNN
ILPRVVKMHLKFDLKGSTYKRRASKKEKEKSFPTYKDLDFMQDMPEGLLLDADTFSALVK
TLQRDCLVLESFKIMDYSLLLGVHNIDQHERERQAQGAQSTSDEKRPVGQKALYSTAMES
IQGGAARGEAIESDDTMGGIPAVNGRGERLLLHIGIIDILQSYRFIKKLEHTWKALVHDG
DTVSVHRPSFYAERFFKFMSNTVFRKNSSLKSSPSKKGRGGALLAVKPLGPTAAFSASQI
PSEREEAQYDLRGARSYPTLEDEGRPDLLPCTPPSFEEATTASIATTLSSTSLSIPERSP
SETSEQPRYRRRTQSSGQDGRPQEEPPAEEDLQQITVQVEPACSVEIVVPKEEDAGVEAS
PAGASAAVEVETASQASDEEGAPASQASDEEDAPATDIYFPTDERSWVYSPLHYSAQAPP
ASDGESDT

Sequence length

668

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system Phospholipase D signaling pathway Endocytosis Focal adhesion Fc gamma R-mediated phagocytosis Regulation of actin cytoskeleton Yersinia infection Choline metabolism in cancer		Synthesis of PIPs at the plasma membrane SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Clathrin-mediated endocytosis

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lethal congenital contracture syndrome 3	Pathogenic	rs121908315	RCV000004878
PIP5K1C-related neurodevelopmental disorder	Pathogenic	rs991616868	RCV004527278

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs45455692, rs1879037	RCV005917528 RCV005921795
Clear cell carcinoma of kidney	Benign	rs1879037	RCV005921798
Familial cancer of breast	Likely benign; Benign	rs45455692, rs1004323	RCV005917527 RCV005921616
Hepatocellular carcinoma	Benign	rs1879037	RCV005921796
Malignant lymphoma, large B-cell, diffuse	Benign	rs1879037	RCV005921799
Malignant tumor of esophagus	Likely benign	rs45455692	RCV005917529
Melanoma	Benign	rs1879037	RCV005921802
Nonpapillary renal cell carcinoma	Benign	rs1879037	RCV005921797
Novel PIP5K1C-related neurodevelopmental disorder	Uncertain significance	rs2512091051	RCV002481178
Ovarian serous cystadenocarcinoma	Likely benign	rs45455692	RCV005917530
PIP5K1C-related disorder	Benign; Likely benign	rs556931990, rs138081265, rs753674329, rs561346539, rs199554038, rs775223915, rs552785133, rs564190032, rs377327828, rs766607961, rs146725634, rs150537614, rs150938855, rs114198000	RCV003924153 RCV003979737 RCV003912069 RCV003947399 RCV003914526 RCV003924346 RCV003934391 RCV003944717 RCV003969328 RCV003946904 RCV003934639 RCV003969076 RCV003912950 RCV003920840
Thymoma	Benign	rs1879037	RCV005921801
Uterine carcinosarcoma	Benign	rs1879037	RCV005921800

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	37010714
Adenocarcinoma of Lung	Associate	26840709
Alzheimer Disease	Associate	37010714
Arthrogryposis	Associate	17701898
Carcinogenesis	Associate	37010714
Lethal Congenital Contractural Syndrome 3	Associate	17701898
Lethal Congenital Contracture Syndrome 2	Associate	17701898
Leukemia Myeloid Acute	Associate	36175877
Neoplasm Metastasis	Associate	30040488, 37010714
Neoplasms	Associate	36803256
Pregnancy Ectopic	Associate	34215268
Triple Negative Breast Neoplasms	Associate	37803350

PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma)