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

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5332
Gene name Gene Name - the full gene name approved by the HGNC.	Phospholipase C beta 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PLCB4
Synonyms (NCBI Gene) Gene synonyms aliases	ARCND2, ARCND2A, ARCND2B, PI-PLC
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20p12.3-p12.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907179	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs397514480	A>G	Pathogenic	Coding sequence variant, missense variant
rs397514481	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397514482	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs397514483	A>C	Pathogenic	Coding sequence variant, missense variant
rs397514769	A>T	Pathogenic	Coding sequence variant, missense variant
rs397514770	G>A	Pathogenic	Coding sequence variant, missense variant
rs397514771	A>T	Pathogenic	Coding sequence variant, missense variant
rs1057521489	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs1555839474	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1568763104	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant

Show/Hide all(200)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021355	hsa-miR-9-5p	Microarray	17612493
MIRT028848	hsa-miR-26b-5p	Microarray	19088304
MIRT439952	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT439952	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT731963	hsa-miR-371a-3p	Luciferase reporter assay, Western blot	27484502
MIRT731963	hsa-miR-371a-3p	Luciferase reporter assay, Western blot	27484502
MIRT731963	hsa-miR-371a-3p	Luciferase reporter assay, Western blot	27484502
MIRT731963	hsa-miR-371a-3p	Luciferase reporter assay, Western blot	27484502
MIRT1239735	hsa-let-7a	CLIP-seq
MIRT1239736	hsa-let-7b	CLIP-seq
MIRT1239737	hsa-let-7c	CLIP-seq
MIRT1239738	hsa-let-7d	CLIP-seq
MIRT1239739	hsa-let-7e	CLIP-seq
MIRT1239740	hsa-let-7f	CLIP-seq
MIRT1239741	hsa-let-7g	CLIP-seq
MIRT1239742	hsa-let-7i	CLIP-seq
MIRT1239743	hsa-miR-1305	CLIP-seq
MIRT1239744	hsa-miR-141	CLIP-seq
MIRT1239745	hsa-miR-183	CLIP-seq
MIRT1239746	hsa-miR-200a	CLIP-seq
MIRT1239747	hsa-miR-202	CLIP-seq
MIRT1239748	hsa-miR-214	CLIP-seq
MIRT1239749	hsa-miR-2276	CLIP-seq
MIRT1239750	hsa-miR-3120-3p	CLIP-seq
MIRT1239751	hsa-miR-3529	CLIP-seq
MIRT1239752	hsa-miR-3616-5p	CLIP-seq
MIRT1239753	hsa-miR-3619-5p	CLIP-seq
MIRT1239754	hsa-miR-3622b-5p	CLIP-seq
MIRT1239755	hsa-miR-3647-5p	CLIP-seq
MIRT1239756	hsa-miR-365	CLIP-seq
MIRT1239757	hsa-miR-3668	CLIP-seq
MIRT1239758	hsa-miR-379	CLIP-seq
MIRT1239759	hsa-miR-3924	CLIP-seq
MIRT1239760	hsa-miR-4451	CLIP-seq
MIRT1239761	hsa-miR-4458	CLIP-seq
MIRT1239762	hsa-miR-4500	CLIP-seq
MIRT1239763	hsa-miR-4502	CLIP-seq
MIRT1239764	hsa-miR-4635	CLIP-seq
MIRT1239765	hsa-miR-4650-3p	CLIP-seq
MIRT1239766	hsa-miR-4690-5p	CLIP-seq
MIRT1239767	hsa-miR-4760-3p	CLIP-seq
MIRT1239768	hsa-miR-4772-3p	CLIP-seq
MIRT1239769	hsa-miR-548u	CLIP-seq
MIRT1239770	hsa-miR-573	CLIP-seq
MIRT1239771	hsa-miR-576-3p	CLIP-seq
MIRT1239772	hsa-miR-591	CLIP-seq
MIRT1239773	hsa-miR-607	CLIP-seq
MIRT1239774	hsa-miR-761	CLIP-seq
MIRT1239775	hsa-miR-891b	CLIP-seq
MIRT1239776	hsa-miR-98	CLIP-seq
MIRT2070494	hsa-miR-1264	CLIP-seq
MIRT2070495	hsa-miR-1271	CLIP-seq
MIRT2070496	hsa-miR-1272	CLIP-seq
MIRT2070497	hsa-miR-1303	CLIP-seq
MIRT2070498	hsa-miR-1324	CLIP-seq
MIRT2070499	hsa-miR-182	CLIP-seq
MIRT2070500	hsa-miR-2052	CLIP-seq
MIRT2070501	hsa-miR-23a	CLIP-seq
MIRT2070502	hsa-miR-23b	CLIP-seq
MIRT2070503	hsa-miR-23c	CLIP-seq
MIRT2070504	hsa-miR-24	CLIP-seq
MIRT2070505	hsa-miR-3121-5p	CLIP-seq
MIRT2070506	hsa-miR-3123	CLIP-seq
MIRT2070507	hsa-miR-3146	CLIP-seq
MIRT1239754	hsa-miR-3622b-5p	CLIP-seq
MIRT2070508	hsa-miR-3925-5p	CLIP-seq
MIRT2070509	hsa-miR-4277	CLIP-seq
MIRT2070510	hsa-miR-4279	CLIP-seq
MIRT2070511	hsa-miR-4284	CLIP-seq
MIRT2070512	hsa-miR-4528	CLIP-seq
MIRT2070513	hsa-miR-4699-3p	CLIP-seq
MIRT2070514	hsa-miR-4729	CLIP-seq
MIRT2070515	hsa-miR-4775	CLIP-seq
MIRT2070516	hsa-miR-4789-3p	CLIP-seq
MIRT2070517	hsa-miR-548n	CLIP-seq
MIRT2070518	hsa-miR-548t	CLIP-seq
MIRT2070519	hsa-miR-96	CLIP-seq
MIRT1239735	hsa-let-7a	CLIP-seq
MIRT1239736	hsa-let-7b	CLIP-seq
MIRT1239737	hsa-let-7c	CLIP-seq
MIRT1239738	hsa-let-7d	CLIP-seq
MIRT1239739	hsa-let-7e	CLIP-seq
MIRT1239740	hsa-let-7f	CLIP-seq
MIRT1239741	hsa-let-7g	CLIP-seq
MIRT1239742	hsa-let-7i	CLIP-seq
MIRT2297638	hsa-miR-1183	CLIP-seq
MIRT2297639	hsa-miR-1228	CLIP-seq
MIRT2297640	hsa-miR-124	CLIP-seq
MIRT2070494	hsa-miR-1264	CLIP-seq
MIRT2070496	hsa-miR-1272	CLIP-seq
MIRT2070497	hsa-miR-1303	CLIP-seq
MIRT1239744	hsa-miR-141	CLIP-seq
MIRT1239745	hsa-miR-183	CLIP-seq
MIRT1239746	hsa-miR-200a	CLIP-seq
MIRT1239747	hsa-miR-202	CLIP-seq
MIRT2297641	hsa-miR-3119	CLIP-seq
MIRT2297642	hsa-miR-3121-3p	CLIP-seq
MIRT2070506	hsa-miR-3123	CLIP-seq
MIRT2297643	hsa-miR-3137	CLIP-seq
MIRT2070507	hsa-miR-3146	CLIP-seq
MIRT2297644	hsa-miR-3168	CLIP-seq
MIRT1239754	hsa-miR-3622b-5p	CLIP-seq
MIRT1239757	hsa-miR-3668	CLIP-seq
MIRT2297645	hsa-miR-3714	CLIP-seq
MIRT2297646	hsa-miR-377	CLIP-seq
MIRT2297647	hsa-miR-3910	CLIP-seq
MIRT2070508	hsa-miR-3925-5p	CLIP-seq
MIRT2297648	hsa-miR-4268	CLIP-seq
MIRT2297649	hsa-miR-4305	CLIP-seq
MIRT2297650	hsa-miR-4428	CLIP-seq
MIRT1239761	hsa-miR-4458	CLIP-seq
MIRT1239762	hsa-miR-4500	CLIP-seq
MIRT1239763	hsa-miR-4502	CLIP-seq
MIRT2070512	hsa-miR-4528	CLIP-seq
MIRT2297651	hsa-miR-4655-5p	CLIP-seq
MIRT2070513	hsa-miR-4699-3p	CLIP-seq
MIRT2297652	hsa-miR-4719	CLIP-seq
MIRT2070514	hsa-miR-4729	CLIP-seq
MIRT1239767	hsa-miR-4760-3p	CLIP-seq
MIRT2070515	hsa-miR-4775	CLIP-seq
MIRT2297653	hsa-miR-4777-5p	CLIP-seq
MIRT2297654	hsa-miR-506	CLIP-seq
MIRT2297655	hsa-miR-513b	CLIP-seq
MIRT2297656	hsa-miR-518d-5p	CLIP-seq
MIRT2297657	hsa-miR-519b-5p	CLIP-seq
MIRT2297658	hsa-miR-519c-5p	CLIP-seq
MIRT2297659	hsa-miR-520c-5p	CLIP-seq
MIRT2297660	hsa-miR-526a	CLIP-seq
MIRT2070517	hsa-miR-548n	CLIP-seq
MIRT2297661	hsa-miR-548p	CLIP-seq
MIRT2070518	hsa-miR-548t	CLIP-seq
MIRT1239769	hsa-miR-548u	CLIP-seq
MIRT1239771	hsa-miR-576-3p	CLIP-seq
MIRT2297662	hsa-miR-587	CLIP-seq
MIRT1239772	hsa-miR-591	CLIP-seq
MIRT2297663	hsa-miR-888	CLIP-seq
MIRT2297664	hsa-miR-9	CLIP-seq
MIRT1239776	hsa-miR-98	CLIP-seq
MIRT2070494	hsa-miR-1264	CLIP-seq
MIRT2070507	hsa-miR-3146	CLIP-seq
MIRT2070512	hsa-miR-4528	CLIP-seq
MIRT2070517	hsa-miR-548n	CLIP-seq
MIRT2070518	hsa-miR-548t	CLIP-seq
MIRT1239735	hsa-let-7a	CLIP-seq
MIRT1239736	hsa-let-7b	CLIP-seq
MIRT1239737	hsa-let-7c	CLIP-seq
MIRT1239738	hsa-let-7d	CLIP-seq
MIRT1239739	hsa-let-7e	CLIP-seq
MIRT1239740	hsa-let-7f	CLIP-seq
MIRT1239741	hsa-let-7g	CLIP-seq
MIRT1239742	hsa-let-7i	CLIP-seq
MIRT2297638	hsa-miR-1183	CLIP-seq
MIRT2595153	hsa-miR-1200	CLIP-seq
MIRT2070495	hsa-miR-1271	CLIP-seq
MIRT2070496	hsa-miR-1272	CLIP-seq
MIRT1239744	hsa-miR-141	CLIP-seq
MIRT2070499	hsa-miR-182	CLIP-seq
MIRT2595154	hsa-miR-190	CLIP-seq
MIRT2595155	hsa-miR-190b	CLIP-seq
MIRT1239746	hsa-miR-200a	CLIP-seq
MIRT1239747	hsa-miR-202	CLIP-seq
MIRT2070500	hsa-miR-2052	CLIP-seq
MIRT2595156	hsa-miR-3074-5p	CLIP-seq
MIRT2070505	hsa-miR-3121-5p	CLIP-seq
MIRT2297643	hsa-miR-3137	CLIP-seq
MIRT2595157	hsa-miR-3145-3p	CLIP-seq
MIRT1239757	hsa-miR-3668	CLIP-seq
MIRT2595158	hsa-miR-3974	CLIP-seq
MIRT2070509	hsa-miR-4277	CLIP-seq
MIRT2070510	hsa-miR-4279	CLIP-seq
MIRT2595159	hsa-miR-4282	CLIP-seq
MIRT1239761	hsa-miR-4458	CLIP-seq
MIRT1239762	hsa-miR-4500	CLIP-seq
MIRT1239763	hsa-miR-4502	CLIP-seq
MIRT2595160	hsa-miR-450b-5p	CLIP-seq
MIRT2070516	hsa-miR-4789-3p	CLIP-seq
MIRT2595161	hsa-miR-507	CLIP-seq
MIRT2595162	hsa-miR-518a-5p	CLIP-seq
MIRT2595163	hsa-miR-527	CLIP-seq
MIRT2297661	hsa-miR-548p	CLIP-seq
MIRT2595164	hsa-miR-557	CLIP-seq
MIRT1239771	hsa-miR-576-3p	CLIP-seq
MIRT2595165	hsa-miR-944	CLIP-seq
MIRT2070519	hsa-miR-96	CLIP-seq
MIRT1239776	hsa-miR-98	CLIP-seq
MIRT2297638	hsa-miR-1183	CLIP-seq
MIRT2070495	hsa-miR-1271	CLIP-seq
MIRT2070496	hsa-miR-1272	CLIP-seq
MIRT1239744	hsa-miR-141	CLIP-seq
MIRT2070499	hsa-miR-182	CLIP-seq
MIRT1239746	hsa-miR-200a	CLIP-seq
MIRT2070500	hsa-miR-2052	CLIP-seq
MIRT2070505	hsa-miR-3121-5p	CLIP-seq
MIRT2297643	hsa-miR-3137	CLIP-seq
MIRT2595157	hsa-miR-3145-3p	CLIP-seq
MIRT2070509	hsa-miR-4277	CLIP-seq
MIRT2070510	hsa-miR-4279	CLIP-seq
MIRT2070516	hsa-miR-4789-3p	CLIP-seq
MIRT2297661	hsa-miR-548p	CLIP-seq
MIRT2070519	hsa-miR-96	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IBA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IEA
GO:0004629	Function	Phospholipase C activity	IEA
GO:0004629	Function	Phospholipase C activity	TAS	8530101
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	35284927
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
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:0035556	Process	Intracellular signal transduction	IEA
GO:0046488	Process	Phosphatidylinositol metabolic process	IBA
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA
GO:0120548	Function	Phosphatidylinositol phospholipase C activity	IEA
GO:0160135	Process	Phospholipase C-activating endothelin receptor signaling pathway	IDA	35284927

MIM	HGNC	e!Ensembl
600810	9059	ENSG00000101333

Protein

UniProt ID

Q15147

Protein name

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

Protein function

Activated phosphatidylinositol-specific phospholipase C enzymes catalyze the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) involved in G-protein coupled receptor signaling pathways. PLCB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17787	PH_14	12 → 140	PH domain	Domain
PF09279	EF-hand_like	209 → 305	Phosphoinositide-specific phospholipase C, efhand-like	Domain
PF00388	PI-PLC-X	315 → 464	Phosphatidylinositol-specific phospholipase C, X domain	Family
PF00387	PI-PLC-Y	565 → 679	Phosphatidylinositol-specific phospholipase C, Y domain	Family
PF00168	C2	701 → 803	C2 domain	Domain
PF06631	DUF1154	913 → 955	Protein of unknown function (DUF1154)	Family

Tissue specificity

TISSUE SPECIFICITY: Preferentially expressed in the retina.

Sequence

MAKPYEFNWQKEVPSFLQEGAVFDRYEEESFVFEPNCLFKVDEFGFFLTWRSEGKEGQVL
ECSLINSIRSGAIPKDPKILAALEAVGKSENDLEGRIVCVCSGTDLVNISFTYMVAENPE
VTKQWVEGLRSIIHNFRANNVSPMTCLKKHWMKLAFMTNTNGKIPVRSITRTFASGKTEK
VIFQALKELGLPSGKNDEIEPTAFSYEKFYELTQKICPRTDIEDLFKKINGDKTDYLTVD
QLVSFLNEHQRDPRLNEILFPFYDAKRAMQIIEMYEPDEDLKKKGLISSDGFCRYLMSDE
NAPVFLDRLELYQEMDHPLAHYFISSSHNTYLTGRQFGGKSSVEMYRQVLLAGCRCVELD
CWDGKGEDQEPIITHGKAMCTDILFKDVIQAIKETAFVTSEYPVILSFENHCSKYQQYKM
SKYCEDLFGDLLLKQALESHPLEPGRALPSPNDLKRKILIKNKRLKPEVEKKQLEALRSM
MEAGESASPANILEDDNEEEIESADQEEEAHPEFKFGNELSADDLGHKEAVANSVKKGLV
TVEDEQAWMASYKYVGATTNIHPYLSTMINYAQPVKFQGFHVAEERNIHYNMSSFNESVG
LGYLKTHAIEFVNYNKRQMSRIYPKGGRVDSSNYMPQIFWNAGCQMVSLNYQTPDLAMQL
NQGKFEYNGSCGYLLKPDFMRRPDRTFDPFSETPVDGVIAATCSVQVISGQFLSDKKIGT
YVEVDMYGLPTDTIRKEFRTRMVMNNGLNPVYNEESFVFRKVILPDLAVLRIAVYDDNNK
LIGQRILPLDGLQAGYRHISLRNEGNKPLSLPTIFCNIVLKTYVPDGFGDIVDALSDPKK
FLSITEKRADQMRAMGIETSDIADVPSDTSKNDKKGKANTAKANVTPQSSSELRPTTTAA
LASGVEAKKGIELIPQVRIEDLKQMKAYLKHLKKQQKELNSLKKKHAKEHSTMQKLHCTQ
VDKIVAQYDKEKSTHEKILEKAMKKKGGSNCLEMKKETEIKIQTLTSDHKSKVKEIVAQH
TKEWSEMINTHSAEEQEIRDLHLSQQCELLKKLLINAHEQQTQQLKLSHDRESKEMRAHQ
AKISMENSKAISQDKSIKNKAERERRVRELNSSNTKKFLEERKRLAMKQSKEMDQLKKVQ
LEHLEFLEKQNEQAKEMQQMVKLEAEMDRRPATVV

Sequence length

1175

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Auriculocondylar Syndrome	auriculocondylar syndrome 2, auriculocondylar syndrome 1, auriculocondylar syndrome	rs397514771, rs387907179, rs397514481, rs397514482, rs397514483, rs397514769, rs397514480, rs397514770	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	31080817
Adenoma Islet Cell	Associate	30575306
Auriculo condylar syndrome	Associate	22560091, 24268655, 30806792
Bone Diseases Developmental	Associate	29122926
Breast Neoplasms	Associate	29512753
Carcinogenesis	Associate	34905385
Carcinoma Hepatocellular	Associate	30896816
Carcinoma Non Small Cell Lung	Associate	31080817
Carcinoma Pancreatic Ductal	Associate	35255936
Colonic Neoplasms	Associate	32420374
Colorectal Neoplasms	Associate	31729423, 36927770
Coronary Aneurysm	Associate	26434682
Down Syndrome	Associate	27293319
Endometrial Neoplasms	Associate	22706224
Eye Abnormalities	Associate	29122926
Gastrointestinal Stromal Tumors	Associate	28212550
Hemangioblastoma	Associate	28742274
Inflammation	Associate	26434682, 28880852
Melanoma	Associate	34905385
Mental Disorders	Associate	21494683
Metabolic Syndrome	Associate	21494683
Mucocutaneous Lymph Node Syndrome	Associate	26434682
Mucopolysaccharidoses	Associate	32886284
Neoplasms	Associate	28212550, 30896816, 31186267, 31729423, 32415113
Nevus Blue	Associate	27934878, 28409567
Optic Disk Drusen	Associate	39865650
Osteoporosis	Associate	34899595
Pancreatitis	Associate	21494683
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	30575306
Prurigo	Associate	37245863
Schwartz Cohen Addad Lambert syndrome	Associate	31186267
Sleep Initiation and Maintenance Disorders	Associate	21494683
Tuberculosis Multidrug Resistant	Associate	29512753
Uveal melanoma	Associate	26683228, 27934878, 29726589, 31186267, 32415113, 33348918, 34905385

PLCB4 (phospholipase C beta 4)