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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5331
Gene name	Phospholipase C beta 3
Gene symbol	PLCB3
Synonyms (NCBI Gene)	SMDCD
Chromosome	11
Chromosome location	11q13.1
Summary	This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated s

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023858	hsa-miR-1-3p	Proteomics	18668040
MIRT032418	hsa-let-7b-5p	Proteomics	18668040
MIRT048057	hsa-miR-197-3p	CLASH	23622248
MIRT442898	hsa-miR-1245b-5p	PAR-CLIP	22100165
MIRT442897	hsa-miR-3142	PAR-CLIP	22100165
MIRT442896	hsa-miR-4635	PAR-CLIP	22100165
MIRT442895	hsa-miR-4480	PAR-CLIP	22100165
MIRT442894	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT442898	hsa-miR-1245b-5p	PAR-CLIP	22100165
MIRT442897	hsa-miR-3142	PAR-CLIP	22100165
MIRT442896	hsa-miR-4635	PAR-CLIP	22100165
MIRT442895	hsa-miR-4480	PAR-CLIP	22100165
MIRT442894	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT1239681	hsa-miR-1291	CLIP-seq
MIRT1239682	hsa-miR-3173-3p	CLIP-seq
MIRT1239683	hsa-miR-3173-5p	CLIP-seq
MIRT1239684	hsa-miR-331-3p	CLIP-seq
MIRT1239685	hsa-miR-33a	CLIP-seq
MIRT1239686	hsa-miR-33b	CLIP-seq
MIRT1239687	hsa-miR-3616-3p	CLIP-seq
MIRT1239688	hsa-miR-4254	CLIP-seq
MIRT1239689	hsa-miR-4297	CLIP-seq
MIRT1239690	hsa-miR-4308	CLIP-seq
MIRT1239691	hsa-miR-4432	CLIP-seq
MIRT1239692	hsa-miR-4436b-3p	CLIP-seq
MIRT1239693	hsa-miR-4476	CLIP-seq
MIRT1239694	hsa-miR-4499	CLIP-seq
MIRT1239695	hsa-miR-4533	CLIP-seq
MIRT1239696	hsa-miR-4708-5p	CLIP-seq
MIRT1239697	hsa-miR-4721	CLIP-seq
MIRT1239698	hsa-miR-4779	CLIP-seq
MIRT1239699	hsa-miR-499-5p	CLIP-seq
MIRT1239700	hsa-miR-586	CLIP-seq
MIRT1239701	hsa-miR-765	CLIP-seq
MIRT1239702	hsa-miR-1	CLIP-seq
MIRT1239703	hsa-miR-1200	CLIP-seq
MIRT1239704	hsa-miR-1207-5p	CLIP-seq
MIRT1239705	hsa-miR-1228	CLIP-seq
MIRT1239681	hsa-miR-1291	CLIP-seq
MIRT1239706	hsa-miR-1912	CLIP-seq
MIRT1239707	hsa-miR-206	CLIP-seq
MIRT1239708	hsa-miR-296-5p	CLIP-seq
MIRT1239709	hsa-miR-3140-5p	CLIP-seq
MIRT1239682	hsa-miR-3173-3p	CLIP-seq
MIRT1239683	hsa-miR-3173-5p	CLIP-seq
MIRT1239710	hsa-miR-3179	CLIP-seq
MIRT1239711	hsa-miR-3180-5p	CLIP-seq
MIRT1239712	hsa-miR-3184	CLIP-seq
MIRT1239685	hsa-miR-33a	CLIP-seq
MIRT1239686	hsa-miR-33b	CLIP-seq
MIRT1239713	hsa-miR-3605-5p	CLIP-seq
MIRT1239687	hsa-miR-3616-3p	CLIP-seq
MIRT1239714	hsa-miR-3652	CLIP-seq
MIRT1239715	hsa-miR-3673	CLIP-seq
MIRT1239716	hsa-miR-423-5p	CLIP-seq
MIRT1239717	hsa-miR-4283	CLIP-seq
MIRT1239718	hsa-miR-4313	CLIP-seq
MIRT1239719	hsa-miR-4430	CLIP-seq
MIRT1239692	hsa-miR-4436b-3p	CLIP-seq
MIRT1239720	hsa-miR-4459	CLIP-seq
MIRT1239693	hsa-miR-4476	CLIP-seq
MIRT1239721	hsa-miR-4492	CLIP-seq
MIRT1239722	hsa-miR-4498	CLIP-seq
MIRT1239694	hsa-miR-4499	CLIP-seq
MIRT1239695	hsa-miR-4533	CLIP-seq
MIRT1239723	hsa-miR-4688	CLIP-seq
MIRT1239696	hsa-miR-4708-5p	CLIP-seq
MIRT1239697	hsa-miR-4721	CLIP-seq
MIRT1239724	hsa-miR-4747-5p	CLIP-seq
MIRT1239725	hsa-miR-4756-3p	CLIP-seq
MIRT1239726	hsa-miR-4763-3p	CLIP-seq
MIRT1239698	hsa-miR-4779	CLIP-seq
MIRT1239727	hsa-miR-486-3p	CLIP-seq
MIRT1239728	hsa-miR-516a-3p	CLIP-seq
MIRT1239729	hsa-miR-520a-5p	CLIP-seq
MIRT1239730	hsa-miR-525-5p	CLIP-seq
MIRT1239731	hsa-miR-566	CLIP-seq
MIRT1239700	hsa-miR-586	CLIP-seq
MIRT1239732	hsa-miR-613	CLIP-seq
MIRT1239733	hsa-miR-665	CLIP-seq
MIRT1239734	hsa-miR-762	CLIP-seq
MIRT2070488	hsa-miR-122	CLIP-seq
MIRT2070489	hsa-miR-3138	CLIP-seq
MIRT2070490	hsa-miR-330-3p	CLIP-seq
MIRT2070491	hsa-miR-3657	CLIP-seq
MIRT2070492	hsa-miR-4669	CLIP-seq
MIRT2070493	hsa-miR-888	CLIP-seq
MIRT2297632	hsa-miR-146b-3p	CLIP-seq
MIRT2297633	hsa-miR-3152-5p	CLIP-seq
MIRT1239687	hsa-miR-3616-3p	CLIP-seq
MIRT2297634	hsa-miR-3915	CLIP-seq
MIRT2297635	hsa-miR-3928	CLIP-seq
MIRT2297636	hsa-miR-4645-5p	CLIP-seq
MIRT2297637	hsa-miR-4673	CLIP-seq
MIRT2456601	hsa-miR-1224-3p	CLIP-seq
MIRT2456602	hsa-miR-3150b-3p	CLIP-seq
MIRT2456603	hsa-miR-3667-5p	CLIP-seq
MIRT2456604	hsa-miR-4663	CLIP-seq
MIRT2456605	hsa-miR-4689	CLIP-seq
MIRT2456606	hsa-miR-4715-5p	CLIP-seq
MIRT2456607	hsa-miR-4762-3p	CLIP-seq
MIRT2456608	hsa-miR-4784	CLIP-seq
MIRT2456609	hsa-miR-571	CLIP-seq
MIRT2456610	hsa-miR-604	CLIP-seq
MIRT2456611	hsa-miR-647	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003073	Process	Regulation of systemic arterial blood pressure	IDA	18468998
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IBA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IDA	9188725, 20966218, 37991948
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IEA
GO:0004629	Function	Phospholipase C activity	TAS	7607669
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	21822282, 23377541
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IDA	12821674
GO:0005516	Function	Calmodulin binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	29122926
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	20966218, 37991948
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	ISS
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	20966218
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046488	Process	Phosphatidylinositol metabolic process	IBA
GO:0046488	Process	Phosphatidylinositol metabolic process	IDA	9188725
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA
GO:0060090	Function	Molecular adaptor activity	EXP	23377541
GO:0060090	Function	Molecular adaptor activity	IDA	23377541
GO:0099524	Component	Postsynaptic cytosol	IDA	27276689
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0120548	Function	Phosphatidylinositol phospholipase C activity	IEA
GO:0140582	Process	Adenylate cyclase-activating G protein-coupled cAMP receptor signaling pathway	IDA	35932760
GO:0140677	Function	Molecular function activator activity	EXP	23377541

MIM	HGNC	e!Ensembl
600230	9056	ENSG00000149782

Q01970

Protein name

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 (EC 3.1.4.11) (Phosphoinositide phospholipase C-beta-3) (Phospholipase C-beta-3) (PLC-beta-3)

Protein function

Catalyzes the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) (PubMed:20966218, PubMed:29122926, PubMed:37991948, PubMed:9188725). Key transducer of G protein-coupled receptor signaling: a

PDB

4GNK , 4QJ3 , 4QJ4 , 4QJ5 , 7SQ2 , 8EMV , 8EMW , 8EMX , 8UQN , 8UQO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17787	PH_14	17 → 146	PH domain	Domain
PF09279	EF-hand_like	216 → 310	Phosphoinositide-specific phospholipase C, efhand-like	Domain
PF00388	PI-PLC-X	319 → 469	Phosphatidylinositol-specific phospholipase C, X domain	Family
PF00387	PI-PLC-Y	590 → 704	Phosphatidylinositol-specific phospholipase C, Y domain	Family
PF00168	C2	726 → 827	C2 domain	Domain
PF08703	PLC-beta_C	1029 → 1202	PLC-beta C terminal	Domain

Sequence

MAGAQPGVHALQLEPPTVVETLRRGSKFIKWDEETSSRNLVTLRVDPNGFFLYWTGPNME
VDTLDISSIRDTRTGRYARLPKDPKIREVLGFGGPDARLEEKLMTVVSGPDPVNTVFLNF
MAVQDDTAKVWSEELFKLAMNILAQNASRNTFLRKAYTKLKLQVNQDGRIPVKNILKMFS
ADKKRVETALESCGLKFNRSESIRPDEFSLEIFERFLNKLCLRPDIDKILLEIGAKGKPY
LTLEQLMDFINQKQRDPRLNEVLYPPLRPSQARLLIEKYEPNQQFLERDQMSMEGFSRYL
GGEENGILPLEALDLSTDMTQPLSAYFINSSHNTYLTAGQLAGTSSVEMYRQALLWGCRC
VELDVWKGRPPEEEPFITHGFTMTTEVPLRDVLEAIAETAFKTSPYPVILSFENHVDSAK
QQAKMAEYCRSIFGDALLIEPLDKYPLAPGVPLPSPQDLMGRILVKNKKRHRPSAGGPDS
AGRKRPLEQSNSALSESSAATEPSSPQLGSPSSDSCPGLSNGEEVGLEKPSLEPQKSLGD
EGLNRGPYVLGPADREDEEEDEEEEEQTDPKKPTTDEGTASSEVNATEEMSTLVNYIEPV
KFKSFEAARKRNKCFEMSSFVETKAMEQLTKSPMEFVEYNKQQLSRIYPKGTRVDSSNYM
PQLFWNVGCQLVALNFQTLDVAMQLNAGVFEYNGRSGYLLKPEFMRRPDKSFDPFTEVIV
DGIVANALRVKVISGQFLSDRKVGIYVEVDMFGLPVDTRRKYRTRTSQGNSFNPVWDEEP
FDFPKVVLPTLASLRIAAFEEGGKFVGHRILPVSAIRSGYHYVCLRNEANQPLCLPALLI
YTEASDYIPDDHQDYAEALINPIKHVSLMDQRARQLAALIGESEAQAGQETCQDTQSQQL
GSQPSSNPTPSPLDASPRRPPGPTTSPASTSLSSPGQRDDLIASILSEVAPTPLDELRGH
KALVKLRSRQERDLRELRKKHQRKAVTLTRRLLDGLAQAQAEGRCRLRPGALGGAADVED
TKEGEDEAKRYQEFQNRQVQSLLELREAQVDAEAQRRLEHLRQALQRLREVVLDANTTQF
KRLKEMNEREKKELQKILDRKRHNSISEAKMRDKHKKEAELTEINRRHITESVNSIRRLE
EAQKQRHDRLVAGQQQVLQQLAEEEPKLLAQLAQECQEQRARLPQEIRRSLLGEMPEGLG
DGPLVACASNGHAPGSSGHLSGADSESQEENTQL

Sequence length

1234

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spondylometaphyseal dysplasia with corneal dystrophy	Likely pathogenic	rs760695903	RCV002248347	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLCB3-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOMETAPHYSEAL DYSPLASIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOMETAPHYSEAL DYSPLASIA, CORNEAL DYSTROPHY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOMETAPHYSEAL DYSPLASIA-CORNEAL DYSTROPHY SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	31080817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	12894496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30896816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	29122926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21411730, 29668297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	21411730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	24412367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	24412367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29122926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30391424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30391424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29632382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	24412367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	7491535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30431106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	21411730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29668297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12894496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	12894496, 7587389, 7849701, 9003510, 9003511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10359076, 12894496, 7673854, 9003510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	10359076, 12894496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31080817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	26308735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	10638960	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	24412367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33628816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASCAT_DG	27723757		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PLCB3 (phospholipase C beta 3)