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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	23236
Gene name	Phospholipase C beta 1
Gene symbol	PLCB1
Synonyms (NCBI Gene)	DEE12EIEE12PI-PLCPLC-154PLC-IPLC-beta-1PLC154PLCB1APLCB1B
Chromosome	20
Chromosome location	20p12.3
Summary	The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction

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SNP ID	Visualize variation	Clinical significance	Consequence
rs3761169	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs28390202	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs35245209	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs45492700	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs45608240	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Coding sequence variant, missense variant
rs75820839	T>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs141433824	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs141857911	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs145869401	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs148848282	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs150804955	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, synonymous variant
rs186429469	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs189186909	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs369652433	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs577076166	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs1060499765	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555790846	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568571093	T>A	Pathogenic	Stop gained, coding sequence variant
rs1568577135	CTGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1600278094	G>T	Pathogenic	Stop gained, coding sequence variant

317

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miRTarBase ID	miRNA	Experiments	Reference
MIRT047991	hsa-miR-30c-5p	CLASH	23622248
MIRT038084	hsa-miR-423-5p	CLASH	23622248
MIRT555570	hsa-miR-501-3p	PAR-CLIP	21572407
MIRT555569	hsa-miR-502-3p	PAR-CLIP	21572407
MIRT555568	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT555567	hsa-miR-3607-5p	PAR-CLIP	21572407
MIRT555565	hsa-miR-567	PAR-CLIP	21572407
MIRT555566	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT555564	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT555563	hsa-miR-4325	PAR-CLIP	21572407
MIRT555562	hsa-miR-297	PAR-CLIP	21572407
MIRT038084	hsa-miR-423-5p	Immunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting	31934130
MIRT038084	hsa-miR-423-5p	Immunohistochemistry (IHC)MicroarrayqRT-PCRWestern blotting	31934130
MIRT739544	hsa-miR-125a-5p	HITS-CLIP	33718276
MIRT555570	hsa-miR-501-3p	PAR-CLIP	21572407
MIRT555569	hsa-miR-502-3p	PAR-CLIP	21572407
MIRT555568	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT555567	hsa-miR-3607-5p	PAR-CLIP	21572407
MIRT555565	hsa-miR-567	PAR-CLIP	21572407
MIRT555566	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT555564	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT555563	hsa-miR-4325	PAR-CLIP	21572407
MIRT555562	hsa-miR-297	PAR-CLIP	21572407
MIRT756352	hsa-miR-26a-5p	Luciferase reporter assayWestern blottingqRT-PCR	36054706
MIRT1239570	hsa-miR-106a	CLIP-seq
MIRT1239571	hsa-miR-106b	CLIP-seq
MIRT1239572	hsa-miR-1225-5p	CLIP-seq
MIRT1239573	hsa-miR-128	CLIP-seq
MIRT1239574	hsa-miR-1290	CLIP-seq
MIRT1239575	hsa-miR-130a	CLIP-seq
MIRT1239576	hsa-miR-130b	CLIP-seq
MIRT1239577	hsa-miR-137	CLIP-seq
MIRT1239578	hsa-miR-148a	CLIP-seq
MIRT1239579	hsa-miR-148b	CLIP-seq
MIRT1239580	hsa-miR-152	CLIP-seq
MIRT1239581	hsa-miR-155	CLIP-seq
MIRT1239582	hsa-miR-17	CLIP-seq
MIRT1239583	hsa-miR-19a	CLIP-seq
MIRT1239584	hsa-miR-19b	CLIP-seq
MIRT1239585	hsa-miR-203	CLIP-seq
MIRT1239586	hsa-miR-205	CLIP-seq
MIRT1239587	hsa-miR-2054	CLIP-seq
MIRT1239588	hsa-miR-20a	CLIP-seq
MIRT1239589	hsa-miR-20b	CLIP-seq
MIRT1239590	hsa-miR-301a	CLIP-seq
MIRT1239591	hsa-miR-301b	CLIP-seq
MIRT1239592	hsa-miR-3121-5p	CLIP-seq
MIRT1239593	hsa-miR-3124-3p	CLIP-seq
MIRT1239594	hsa-miR-3167	CLIP-seq
MIRT1239595	hsa-miR-3184	CLIP-seq
MIRT1239596	hsa-miR-3614-3p	CLIP-seq
MIRT1239597	hsa-miR-3666	CLIP-seq
MIRT1239598	hsa-miR-371-5p	CLIP-seq
MIRT1239599	hsa-miR-371b-5p	CLIP-seq
MIRT1239600	hsa-miR-380	CLIP-seq
MIRT1239601	hsa-miR-3973	CLIP-seq
MIRT1239602	hsa-miR-421	CLIP-seq
MIRT1239603	hsa-miR-4255	CLIP-seq
MIRT1239604	hsa-miR-4272	CLIP-seq
MIRT1239605	hsa-miR-4282	CLIP-seq
MIRT1239606	hsa-miR-4295	CLIP-seq
MIRT1239607	hsa-miR-4517	CLIP-seq
MIRT1239608	hsa-miR-454	CLIP-seq
MIRT1239609	hsa-miR-4635	CLIP-seq
MIRT1239610	hsa-miR-4688	CLIP-seq
MIRT1239611	hsa-miR-4699-5p	CLIP-seq
MIRT1239612	hsa-miR-4703-3p	CLIP-seq
MIRT1239613	hsa-miR-4709-3p	CLIP-seq
MIRT1239614	hsa-miR-4709-5p	CLIP-seq
MIRT1239615	hsa-miR-4720-3p	CLIP-seq
MIRT1239616	hsa-miR-4802-3p	CLIP-seq
MIRT1239617	hsa-miR-4804-3p	CLIP-seq
MIRT1239618	hsa-miR-486-3p	CLIP-seq
MIRT1239619	hsa-miR-513c	CLIP-seq
MIRT1239620	hsa-miR-514b-5p	CLIP-seq
MIRT1239621	hsa-miR-519a	CLIP-seq
MIRT1239622	hsa-miR-519b-3p	CLIP-seq
MIRT1239623	hsa-miR-519c-3p	CLIP-seq
MIRT1239624	hsa-miR-519d	CLIP-seq
MIRT1239625	hsa-miR-520g	CLIP-seq
MIRT1239626	hsa-miR-520h	CLIP-seq
MIRT1239627	hsa-miR-548n	CLIP-seq
MIRT1239628	hsa-miR-561	CLIP-seq
MIRT1239629	hsa-miR-579	CLIP-seq
MIRT1239630	hsa-miR-586	CLIP-seq
MIRT1239631	hsa-miR-607	CLIP-seq
MIRT1239632	hsa-miR-758	CLIP-seq
MIRT1239633	hsa-miR-876-5p	CLIP-seq
MIRT1239634	hsa-miR-93	CLIP-seq
MIRT2070467	hsa-miR-1273e	CLIP-seq
MIRT2070468	hsa-miR-129-5p	CLIP-seq
MIRT2070469	hsa-miR-1298	CLIP-seq
MIRT1239575	hsa-miR-130a	CLIP-seq
MIRT1239576	hsa-miR-130b	CLIP-seq
MIRT1239583	hsa-miR-19a	CLIP-seq
MIRT1239584	hsa-miR-19b	CLIP-seq
MIRT1239586	hsa-miR-205	CLIP-seq
MIRT2070470	hsa-miR-2276	CLIP-seq
MIRT1239590	hsa-miR-301a	CLIP-seq
MIRT1239591	hsa-miR-301b	CLIP-seq
MIRT2070471	hsa-miR-3122	CLIP-seq
MIRT2070472	hsa-miR-3190	CLIP-seq
MIRT1239597	hsa-miR-3666	CLIP-seq
MIRT2070473	hsa-miR-3913-5p	CLIP-seq
MIRT2070474	hsa-miR-3920	CLIP-seq
MIRT1239606	hsa-miR-4295	CLIP-seq
MIRT2070475	hsa-miR-4327	CLIP-seq
MIRT2070476	hsa-miR-4452	CLIP-seq
MIRT1239608	hsa-miR-454	CLIP-seq
MIRT2070477	hsa-miR-4658	CLIP-seq
MIRT2070478	hsa-miR-4659a-3p	CLIP-seq
MIRT2070479	hsa-miR-4659b-3p	CLIP-seq
MIRT2070480	hsa-miR-4686	CLIP-seq
MIRT1239615	hsa-miR-4720-3p	CLIP-seq
MIRT2070481	hsa-miR-4758-5p	CLIP-seq
MIRT2070482	hsa-miR-4762-3p	CLIP-seq
MIRT1239617	hsa-miR-4804-3p	CLIP-seq
MIRT1239627	hsa-miR-548n	CLIP-seq
MIRT1239630	hsa-miR-586	CLIP-seq
MIRT2070483	hsa-miR-596	CLIP-seq
MIRT2070484	hsa-miR-7	CLIP-seq
MIRT1239575	hsa-miR-130a	CLIP-seq
MIRT1239576	hsa-miR-130b	CLIP-seq
MIRT1239583	hsa-miR-19a	CLIP-seq
MIRT1239584	hsa-miR-19b	CLIP-seq
MIRT2297623	hsa-miR-2113	CLIP-seq
MIRT2297624	hsa-miR-224	CLIP-seq
MIRT1239590	hsa-miR-301a	CLIP-seq
MIRT1239591	hsa-miR-301b	CLIP-seq
MIRT2297625	hsa-miR-31	CLIP-seq
MIRT1239597	hsa-miR-3666	CLIP-seq
MIRT1239606	hsa-miR-4295	CLIP-seq
MIRT2297626	hsa-miR-4328	CLIP-seq
MIRT1239608	hsa-miR-454	CLIP-seq
MIRT2070477	hsa-miR-4658	CLIP-seq
MIRT2297627	hsa-miR-4753-3p	CLIP-seq
MIRT2070481	hsa-miR-4758-5p	CLIP-seq
MIRT2297628	hsa-miR-4768-5p	CLIP-seq
MIRT2297629	hsa-miR-548an	CLIP-seq
MIRT2297630	hsa-miR-599	CLIP-seq
MIRT2595080	hsa-miR-122	CLIP-seq
MIRT1239572	hsa-miR-1225-5p	CLIP-seq
MIRT2595081	hsa-miR-1245	CLIP-seq
MIRT2595082	hsa-miR-1246	CLIP-seq
MIRT2595083	hsa-miR-1251	CLIP-seq
MIRT739543	hsa-miR-125b	CLIP-seq
MIRT2595084	hsa-miR-1264	CLIP-seq
MIRT2595085	hsa-miR-1270	CLIP-seq
MIRT2595086	hsa-miR-1285	CLIP-seq
MIRT1239574	hsa-miR-1290	CLIP-seq
MIRT2595087	hsa-miR-1299	CLIP-seq
MIRT2595088	hsa-miR-1343	CLIP-seq
MIRT2595089	hsa-miR-193a-5p	CLIP-seq
MIRT2595090	hsa-miR-204	CLIP-seq
MIRT1239587	hsa-miR-2054	CLIP-seq
MIRT2595091	hsa-miR-211	CLIP-seq
MIRT739546	hsa-miR-2355-3p	CLIP-seq
MIRT2595092	hsa-miR-299-3p	CLIP-seq
MIRT2595093	hsa-miR-3135b	CLIP-seq
MIRT739539	hsa-miR-3140-5p	CLIP-seq
MIRT2595094	hsa-miR-3149	CLIP-seq
MIRT1239594	hsa-miR-3167	CLIP-seq
MIRT2595095	hsa-miR-3183	CLIP-seq
MIRT2595096	hsa-miR-3187-3p	CLIP-seq
MIRT2595097	hsa-miR-3187-5p	CLIP-seq
MIRT2070472	hsa-miR-3190	CLIP-seq
MIRT2595098	hsa-miR-330-3p	CLIP-seq
MIRT2595099	hsa-miR-34a	CLIP-seq
MIRT2595100	hsa-miR-34c-5p	CLIP-seq
MIRT2595101	hsa-miR-3622b-5p	CLIP-seq
MIRT2595102	hsa-miR-3646	CLIP-seq
MIRT2595103	hsa-miR-3647-3p	CLIP-seq
MIRT2595104	hsa-miR-3650	CLIP-seq
MIRT2595105	hsa-miR-3677-5p	CLIP-seq
MIRT2595106	hsa-miR-3691-5p	CLIP-seq
MIRT2595107	hsa-miR-369-3p	CLIP-seq
MIRT2595108	hsa-miR-3911	CLIP-seq
MIRT2595109	hsa-miR-3945	CLIP-seq
MIRT2595110	hsa-miR-4253	CLIP-seq
MIRT1239604	hsa-miR-4272	CLIP-seq
MIRT2595111	hsa-miR-4287	CLIP-seq
MIRT739540	hsa-miR-4319	CLIP-seq
MIRT2595112	hsa-miR-4320	CLIP-seq
MIRT2070475	hsa-miR-4327	CLIP-seq
MIRT2595113	hsa-miR-4426	CLIP-seq
MIRT2595114	hsa-miR-4469	CLIP-seq
MIRT2595115	hsa-miR-4475	CLIP-seq
MIRT2595116	hsa-miR-4493	CLIP-seq
MIRT2595117	hsa-miR-449a	CLIP-seq
MIRT2595118	hsa-miR-449b	CLIP-seq
MIRT2595119	hsa-miR-4529-5p	CLIP-seq
MIRT2595120	hsa-miR-4643	CLIP-seq
MIRT739545	hsa-miR-4646-3p	CLIP-seq
MIRT2595121	hsa-miR-4647	CLIP-seq
MIRT2070478	hsa-miR-4659a-3p	CLIP-seq
MIRT2070479	hsa-miR-4659b-3p	CLIP-seq
MIRT2595122	hsa-miR-4662b	CLIP-seq
MIRT2595123	hsa-miR-4666-5p	CLIP-seq
MIRT739538	hsa-miR-4680-3p	CLIP-seq
MIRT2595124	hsa-miR-4680-5p	CLIP-seq
MIRT2595125	hsa-miR-4683	CLIP-seq
MIRT2595126	hsa-miR-4684-5p	CLIP-seq
MIRT2595127	hsa-miR-4685-3p	CLIP-seq
MIRT2595128	hsa-miR-4717-3p	CLIP-seq
MIRT2595129	hsa-miR-4723-3p	CLIP-seq
MIRT2595130	hsa-miR-4725-5p	CLIP-seq
MIRT2595131	hsa-miR-4729	CLIP-seq
MIRT739542	hsa-miR-4732-3p	CLIP-seq
MIRT2595132	hsa-miR-4752	CLIP-seq
MIRT2070482	hsa-miR-4762-3p	CLIP-seq
MIRT2595133	hsa-miR-4775	CLIP-seq
MIRT2595134	hsa-miR-4777-5p	CLIP-seq
MIRT1239616	hsa-miR-4802-3p	CLIP-seq
MIRT2595135	hsa-miR-490-5p	CLIP-seq
MIRT2595136	hsa-miR-504	CLIP-seq
MIRT2595137	hsa-miR-518a-5p	CLIP-seq
MIRT2595138	hsa-miR-527	CLIP-seq
MIRT2595139	hsa-miR-548c-3p	CLIP-seq
MIRT2595140	hsa-miR-577	CLIP-seq
MIRT2595141	hsa-miR-581	CLIP-seq
MIRT2595142	hsa-miR-590-3p	CLIP-seq
MIRT2595143	hsa-miR-612	CLIP-seq
MIRT2595144	hsa-miR-620	CLIP-seq
MIRT2595145	hsa-miR-630	CLIP-seq
MIRT2595146	hsa-miR-642b	CLIP-seq
MIRT2595147	hsa-miR-656	CLIP-seq
MIRT2595148	hsa-miR-659	CLIP-seq
MIRT2595149	hsa-miR-661	CLIP-seq
MIRT739541	hsa-miR-670	CLIP-seq
MIRT2070484	hsa-miR-7	CLIP-seq
MIRT2595150	hsa-miR-875-3p	CLIP-seq
MIRT1239633	hsa-miR-876-5p	CLIP-seq
MIRT2595151	hsa-miR-9	CLIP-seq
MIRT2595152	hsa-miR-942	CLIP-seq
MIRT1239572	hsa-miR-1225-5p	CLIP-seq
MIRT2595082	hsa-miR-1246	CLIP-seq
MIRT2595083	hsa-miR-1251	CLIP-seq
MIRT739543	hsa-miR-125b	CLIP-seq
MIRT2595084	hsa-miR-1264	CLIP-seq
MIRT2595085	hsa-miR-1270	CLIP-seq
MIRT2595086	hsa-miR-1285	CLIP-seq
MIRT1239574	hsa-miR-1290	CLIP-seq
MIRT2595087	hsa-miR-1299	CLIP-seq
MIRT2688041	hsa-miR-1825	CLIP-seq
MIRT2595089	hsa-miR-193a-5p	CLIP-seq
MIRT2595090	hsa-miR-204	CLIP-seq
MIRT1239587	hsa-miR-2054	CLIP-seq
MIRT2595091	hsa-miR-211	CLIP-seq
MIRT2070470	hsa-miR-2276	CLIP-seq
MIRT739546	hsa-miR-2355-3p	CLIP-seq
MIRT2595092	hsa-miR-299-3p	CLIP-seq
MIRT739539	hsa-miR-3140-5p	CLIP-seq
MIRT2595094	hsa-miR-3149	CLIP-seq
MIRT2688042	hsa-miR-3163	CLIP-seq
MIRT1239594	hsa-miR-3167	CLIP-seq
MIRT2595097	hsa-miR-3187-5p	CLIP-seq
MIRT2595098	hsa-miR-330-3p	CLIP-seq
MIRT2595101	hsa-miR-3622b-5p	CLIP-seq
MIRT2595102	hsa-miR-3646	CLIP-seq
MIRT2595103	hsa-miR-3647-3p	CLIP-seq
MIRT2595104	hsa-miR-3650	CLIP-seq
MIRT2688043	hsa-miR-3662	CLIP-seq
MIRT2595106	hsa-miR-3691-5p	CLIP-seq
MIRT2595107	hsa-miR-369-3p	CLIP-seq
MIRT1239600	hsa-miR-380	CLIP-seq
MIRT2595108	hsa-miR-3911	CLIP-seq
MIRT2595109	hsa-miR-3945	CLIP-seq
MIRT2595110	hsa-miR-4253	CLIP-seq
MIRT1239604	hsa-miR-4272	CLIP-seq
MIRT2595111	hsa-miR-4287	CLIP-seq
MIRT739540	hsa-miR-4319	CLIP-seq
MIRT2595112	hsa-miR-4320	CLIP-seq
MIRT2070475	hsa-miR-4327	CLIP-seq
MIRT2595114	hsa-miR-4469	CLIP-seq
MIRT2595115	hsa-miR-4475	CLIP-seq
MIRT1239607	hsa-miR-4517	CLIP-seq
MIRT2688044	hsa-miR-4522	CLIP-seq
MIRT2595120	hsa-miR-4643	CLIP-seq
MIRT739545	hsa-miR-4646-3p	CLIP-seq
MIRT2070478	hsa-miR-4659a-3p	CLIP-seq
MIRT2070479	hsa-miR-4659b-3p	CLIP-seq
MIRT2595123	hsa-miR-4666-5p	CLIP-seq
MIRT739538	hsa-miR-4680-3p	CLIP-seq
MIRT2595124	hsa-miR-4680-5p	CLIP-seq
MIRT2595125	hsa-miR-4683	CLIP-seq
MIRT2595126	hsa-miR-4684-5p	CLIP-seq
MIRT2595127	hsa-miR-4685-3p	CLIP-seq
MIRT2595128	hsa-miR-4717-3p	CLIP-seq
MIRT2595130	hsa-miR-4725-5p	CLIP-seq
MIRT2595131	hsa-miR-4729	CLIP-seq
MIRT739542	hsa-miR-4732-3p	CLIP-seq
MIRT2595132	hsa-miR-4752	CLIP-seq
MIRT2688045	hsa-miR-4766-3p	CLIP-seq
MIRT2595134	hsa-miR-4777-5p	CLIP-seq
MIRT1239616	hsa-miR-4802-3p	CLIP-seq
MIRT2595135	hsa-miR-490-5p	CLIP-seq
MIRT2595136	hsa-miR-504	CLIP-seq
MIRT2595137	hsa-miR-518a-5p	CLIP-seq
MIRT2688046	hsa-miR-520f	CLIP-seq
MIRT2595138	hsa-miR-527	CLIP-seq
MIRT2688047	hsa-miR-548p	CLIP-seq
MIRT2595140	hsa-miR-577	CLIP-seq
MIRT1239630	hsa-miR-586	CLIP-seq
MIRT2595142	hsa-miR-590-3p	CLIP-seq
MIRT2595143	hsa-miR-612	CLIP-seq
MIRT2595144	hsa-miR-620	CLIP-seq
MIRT2595145	hsa-miR-630	CLIP-seq
MIRT2688048	hsa-miR-636	CLIP-seq
MIRT2595146	hsa-miR-642b	CLIP-seq
MIRT2595148	hsa-miR-659	CLIP-seq
MIRT2595149	hsa-miR-661	CLIP-seq
MIRT739541	hsa-miR-670	CLIP-seq
MIRT2595150	hsa-miR-875-3p	CLIP-seq
MIRT1239633	hsa-miR-876-5p	CLIP-seq
MIRT2688049	hsa-miR-888	CLIP-seq
MIRT2595151	hsa-miR-9	CLIP-seq
MIRT2595152	hsa-miR-942	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	IEA
GO:0000086	Process	G2/M transition of mitotic cell cycle	ISS
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISS
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IBA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IDA	9188725
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IEA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	ISS
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	NAS	11118617
GO:0004629	Function	Phospholipase C activity	TAS
GO:0005096	Function	GTPase activator activity	IDA	1322796
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IDA	12821674
GO:0005516	Function	Calmodulin binding	IEA
GO:0005521	Function	Lamin binding	IEA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	12799190
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	10760467
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11118617
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	NAS	11118617
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007207	Process	Phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	IEA
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	IEA
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	ISS
GO:0007215	Process	Glutamate receptor signaling pathway	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	ISS
GO:0007612	Process	Learning	IEA
GO:0007613	Process	Memory	IBA
GO:0007613	Process	Memory	IEA
GO:0007613	Process	Memory	ISS
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	IEA
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	ISS
GO:0010560	Process	Positive regulation of glycoprotein biosynthetic process	IEA
GO:0010560	Process	Positive regulation of glycoprotein biosynthetic process	ISS
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016607	Component	Nuclear speck	IBA
GO:0016607	Component	Nuclear speck	IDA	12799190
GO:0016607	Component	Nuclear speck	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019899	Function	Enzyme binding	IPI	12799190
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0031161	Process	Phosphatidylinositol catabolic process	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032735	Process	Positive regulation of interleukin-12 production	IEA
GO:0032735	Process	Positive regulation of interleukin-12 production	ISS
GO:0032957	Process	Inositol trisphosphate metabolic process	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034284	Process	Response to monosaccharide	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035722	Process	Interleukin-12-mediated signaling pathway	IDA	11743656
GO:0035723	Process	Interleukin-15-mediated signaling pathway	IDA	11743656
GO:0040019	Process	Positive regulation of embryonic development	IEA
GO:0040019	Process	Positive regulation of embryonic development	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0043434	Process	Response to peptide hormone	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0046330	Process	Positive regulation of JNK cascade	IDA	9500449
GO:0046488	Process	Phosphatidylinositol metabolic process	IBA
GO:0046488	Process	Phosphatidylinositol metabolic process	IDA	9188725
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046488	Process	Phosphatidylinositol metabolic process	ISS
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	ISS
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA
GO:0048639	Process	Positive regulation of developmental growth	IEA
GO:0048639	Process	Positive regulation of developmental growth	ISS
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA
GO:0060466	Process	Activation of meiosis involved in egg activation	IEA
GO:0060466	Process	Activation of meiosis involved in egg activation	ISS
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070498	Process	Interleukin-1-mediated signaling pathway	IDA	8872139
GO:0080154	Process	Regulation of fertilization	IEA
GO:0080154	Process	Regulation of fertilization	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:0099178	Process	Regulation of retrograde trans-synaptic signaling by endocanabinoid	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0120548	Function	Phosphatidylinositol phospholipase C activity	IEA
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IEA
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	ISS
GO:1902618	Process	Cellular response to fluoride	IEA
GO:1903140	Process	Regulation of establishment of endothelial barrier	IEA
GO:1904117	Process	Cellular response to vasopressin	IEA
GO:1904637	Process	Cellular response to ionomycin	IEA
GO:1905631	Process	Cellular response to glyceraldehyde	IEA
GO:1990806	Process	Ligand-gated ion channel signaling pathway	IEA
GO:2000344	Process	Positive regulation of acrosome reaction	IEA
GO:2000344	Process	Positive regulation of acrosome reaction	ISS
GO:2000438	Process	Negative regulation of monocyte extravasation	IEA
GO:2000438	Process	Negative regulation of monocyte extravasation	ISS

MIM	HGNC	e!Ensembl
607120	15917	ENSG00000182621

Q9NQ66

Protein name

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 (EC 3.1.4.11) (PLC-154) (Phosphoinositide phospholipase C-beta-1) (Phospholipase C-I) (PLC-I) (Phospholipase C-beta-1) (PLC-beta-1)

Protein function

Catalyzes the hydrolysis of 1-phosphatidylinositol 4,5-bisphosphate into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) and mediates intracellular signaling downstream of G protein-coupled receptors (PubMed:9188725). Regulates the f

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17787	PH_14	17 → 145	PH domain	Domain
PF09279	EF-hand_like	215 → 309	Phosphoinositide-specific phospholipase C, efhand-like	Domain
PF00388	PI-PLC-X	318 → 468	Phosphatidylinositol-specific phospholipase C, X domain	Family
PF00387	PI-PLC-Y	540 → 654	Phosphatidylinositol-specific phospholipase C, Y domain	Family
PF06631	DUF1154	903 → 946	Protein of unknown function (DUF1154)	Family
PF08703	PLC-beta_C	1003 → 1176	PLC-beta C terminal	Domain

Sequence

MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDDSTIVTPIILRTDPQGFFFYWTDQNKE
TELLDLSLVKDARCGRHAKAPKDPKLRELLDVGNIGRLEQRMITVVYGPDLVNISHLNLV
AFQEEVAKEWTNEVFSLATNLLAQNMSRDAFLEKAYTKLKLQVTPEGRIPLKNIYRLFSA
DRKRVETALEACSLPSSRNDSIPQEDFTPEVYRVFLNNLCPRPEIDNIFSEFGAKSKPYL
TVDQMMDFINLKQRDPRLNEILYPPLKQEQVQVLIEKYEPNNSLARKGQISVDGFMRYLS
GEENGVVSPEKLDLNEDMSQPLSHYFINSSHNTYLTAGQLAGNSSVEMYRQVLLSGCRCV
ELDCWKGRTAEEEPVITHGFTMTTEISFKEVIEAIAECAFKTSPFPILLSFENHVDSPKQ
QAKMAEYCRLIFGDALLMEPLEKYPLESGVPLPSPMDLMYKILVKNKKKSHKSSEGSGKK
KLSEQASNTYSDSSSMFEPSSPGAGEADTESDDDDDDDDCKKSSMDEGTAGSEAMATEEM
SNLVNYIQPVKFESFEISKKRNKSFEMSSFVETKGLEQLTKSPVEFVEYNKMQLSRIYPK
GTRVDSSNYMPQLFWNAGCQMVALNFQTMDLAMQINMGMYEYNGKSGYRLKPEFMRRPDK
HFDPFTEGIVDGIVANTLSVKIISGQFLSDKKVGTYVEVDMFGLPVDTRRKAFKTKTSQG
NAVNPVWEEEPIVFKKVVLPTLACLRIAVYEEGGKFIGHRILPVQAIRPGYHYICLRNER
NQPLTLPAVFVYIEVKDYVPDTYADVIEALSNPIRYVNLMEQRAKQLAALTLEDEEEVKK
EADPGETPSEAPSEARTTPAENGVNHTTTLTPKPPSQALHSQPAPGSVKAPAKTEDLIQS
VLTEVEAQTIEELKQQKSFVKLQKKHYKEMKDLVKRHHKKTTDLIKEHTTKYNEIQNDYL
RRRAALEKSAKKDSKKKSEPSSPDHGSSTIEQDLAALDAEMTQKLIDLKDKQQQQLLNLR
QEQYYSEKYQKREHIKLLIQKLTDVAEECQNNQLKKLKEICEKEKKELKKKMDKKRQEKI
TEAKSKDKSQMEEEKTEMIRSYIQEVVQYIKRLEEAQSKRQEKLVEKHKEIRQQILDEKP
KLQVELEQEYQDKFKRLPLEILEFVQEAMKGKISEDSNHGSAPLSLSSDPGKVNHKTPSS
EELGGDIPGKEFDTPL

Sequence length

1216

Interactions

View interactions

978

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs1060499765	RCV000454325
Developmental and epileptic encephalopathy, 12	Likely pathogenic; Pathogenic	rs2123451785, rs2123399674, rs2123290747, rs1235234848, rs1981959745, rs1989166718, rs2514783845, rs2515281114, rs1568574966, rs2515299378, rs2515247150, rs2515326219, rs2515182138, rs2515286894, rs2515277441 View all (4 more)	RCV002013493 RCV002035364 RCV002022287 RCV002030669 RCV001955238 RCV002581002 RCV002843972 RCV002857337 RCV002999798 RCV003019022 RCV003019601 RCV003032537 RCV003639548 RCV003639950 RCV003639936 RCV003639160 RCV000768047 RCV000802934 RCV001004879
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs1555790846	RCV000656063

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	rs6086564, rs773100834	RCV005917071 RCV005898683
Clear cell carcinoma of kidney	Benign; Likely benign	rs45496299, rs61755436	RCV005889191 RCV005889193
Developmental and epileptic encephalopathy, 1	Likely benign	rs45541432	RCV000626123
Early Infantile Epileptic Encephalopathy, Autosomal Recessive	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs16994453, rs2076689, rs45608240, rs3761170, rs61755434, rs2076413, rs45464693, rs2235613, rs2327089, rs2294597, rs6086350, rs79284104, rs6055775, rs41275590, rs886056976 View all (19 more)	RCV000268910 RCV000375993 RCV000341113 RCV000370267 RCV000355340 RCV000381132 RCV000282080 RCV000404096 RCV000398026 RCV000272300 RCV000361223 RCV000344480 RCV000307591 RCV000378618 RCV000303647 RCV000384362 RCV000404233 RCV000387419 RCV000346985 RCV000402730 RCV000318034 RCV000290079 RCV000406552 RCV000323998 RCV000320483 RCV000372659 RCV000333145 RCV000377517 RCV000285752 RCV000268702 RCV000259208 RCV000348493 RCV000345082 RCV000361913
Hepatocellular carcinoma	Benign	rs1015171	RCV005915823
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	rs6086564, rs148848282	RCV005917072 RCV005898726
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs6086564, rs45496299, rs61755436	RCV005917074 RCV005889192 RCV005889194
PLCB1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	rs28390202, rs374061975, rs751967802, rs45608240, rs61755436, rs373476629, rs141433824, rs186429469, rs139859188, rs202109404, rs752339765, rs200567140, rs200598979, rs150241349, rs140899287 View all (8 more)	RCV003915089 RCV003953798 RCV003946135 RCV003975034 RCV004757129 RCV003898738 RCV003927627 RCV004757189 RCV003940027 RCV003920147 RCV004757609 RCV004757210 RCV003912428 RCV003912808 RCV003972791 RCV003962397 RCV003953284 RCV003938089 RCV003948102 RCV003928389 RCV003948162 RCV003932942 RCV003913122
Sarcoma	Benign	rs6086564	RCV005917073
See cases	Conflicting classifications of pathogenicity	rs184436336	RCV002252101
Thymoma	Benign	rs6086564	RCV005917075
Uterine corpus endometrial carcinoma	Benign	rs6086564	RCV005917076

Show/Hide Text Mining Associations (52)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	36550819
Alzheimer Disease	Associate	37833700
Astrocytoma	Stimulate	26614510
Autistic Disorder	Associate	23375656
Bipolar Disorder	Associate	21494683
Brain Diseases	Associate	24684524
Breast Neoplasms	Associate	28112359, 33962648, 35045088
Carcinoma Hepatocellular	Associate	30896816, 32763246
Carcinoma Non Small Cell Lung	Associate	31080817
Cardiovascular Diseases	Associate	36875456
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	35045088
Chronic Periodontitis	Associate	36054706
Colorectal Neoplasms	Associate	32535071
Coronary Aneurysm	Associate	26434682
Delirium	Associate	33086708
Dermatitis Exfoliative	Associate	25950944
Diabetes Mellitus	Associate	36875456
Diabetes Mellitus Type 2	Associate	35271662, 36360309
Epilepsy	Associate	22690784, 25950944
Glioblastoma	Associate	26614510
Glioblastoma	Inhibit	35303162
Glioma	Associate	26614510, 35303162
Head and Neck Neoplasms	Associate	24786473
Hemoglobinuria Paroxysmal	Associate	1688497
Hirschsprung Disease	Associate	29895226
Hypoxia	Associate	38188159
Hypoxia Brain	Associate	38188159
Infantile Epileptic Dyskinetic Encephalopathy	Associate	24684524
Inflammation	Associate	26434682, 35491409, 36611865
Insulinoma	Associate	29851790
Leukemia Erythroblastic Acute	Associate	24962066
Leukemia Lymphoma Adult T Cell	Associate	37832654
Lewy Body Disease	Inhibit	15605986
Lymphoma B Cell	Associate	3309123
Lymphoma Non Hodgkin	Associate	26614510
Mental Disorders	Associate	21494683, 25950944
Metabolic Syndrome	Associate	21494683
Mucocutaneous Lymph Node Syndrome	Associate	26434682
Neoplasms	Associate	1309740, 16612594, 25752595, 29115528, 30896816, 9717965
Oligodendroglioma	Stimulate	26614510
Ovarian Neoplasms	Associate	32196575
Pancreatic Neoplasms	Associate	9802880
Pancreatitis	Associate	21494683, 36611865
Periodontitis	Associate	35491409
Prurigo	Associate	37245863
Pulmonary edema of mountaineers	Associate	24465776
Reperfusion Injury	Associate	38188159
Sarcopenia	Associate	35271662
Schizophrenia	Associate	21494683
Seizures	Associate	22690784
Sleep Initiation and Maintenance Disorders	Associate	21494683
Thyroid Neoplasms	Associate	38165228

PLCB1 (phospholipase C beta 1)