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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PLCB4 Gene

protein-coding GIFtS: 63
GCID: GC20P009024

phospholipase C, beta 4

Explore 29 diseases affiliated with
PLCB4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Phospholipase C, Beta 4¹ ²		PI-PLC²
Phosphoinositide Phospholipase C-Beta-4² ³		DJ1119D9.2 (Phopholipase C, Beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4))²
PLC-Beta-4¹		Inositoltrisphosphohydrolase¹
EC 3.1.4.11³ ⁸		Monophosphatidylinositol Phosphodiesterase²
1-Phosphatidyl-D-Myo-Inositol-4,5-Bisphosphate¹		Phosphoinositidase C²
1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Beta-4²		Triphosphoinositide Phosphodiesterase²
ARCND2²		Phospholipase C-Beta-4³

External Ids:	HGNC: 9059¹	Entrez Gene: 5332²	Ensembl: ENSG00000101333⁷	OMIM: 600810⁵	UniProtKB: Q15147³

Export aliases for PLCB4 gene to outside databases

Previous GC identifers: GC20P009276 GC20P009071

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PLCB4:

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 of many extracellular signals in the retina. Multiple transcript variants encoding

different isoforms have been found for this gene. (provided by RefSeq, Feb 2010)

UniProtKB/Swiss-Prot: PLCB4_HUMAN, Q15147

Function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3)

is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This form has a role in retina signal

transduction

summary for PLCB4:

Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic

molecules. PLC is subdivided into beta, gamma, delta, epsilon, zeta and eta subtypes, which catalyze the

hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to inositol 1,4,5-trisphosphate (IP3) and

1,2-diacylglycerol (DAG). IP3 and DAG both have important second messenger functions. PLC-beta is primarily

activated by Gq/11 proteins and PLC-gamma is activated by phosphorylation in response to a variety of growth

factor and immune system signals. Phospholipases are ubiquitously expressed and have diverse biological

functions including roles in inflammation, cell growth, signaling and death and maintenance of membrane

phospholipids.

Gene Wiki entry for PLCB4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011387.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PLCB4 gene promoter:
SRF S8 POU2F1 FOXJ2 (long isoform) SRF (504 AA) POU2F1a FOXJ2 Egr-4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PLCB4 promoter sequence

Search SABiosciences Chromatin IP Primers for PLCB4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLCB4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12 Ensembl cytogenetic band: 20p12.3 HGNC cytogenetic band: 20p12

PLCB4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLCB4 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P009024: view genomic region (about GC identifiers)

Start:	9,049,410 bp from pter	End:	9,461,889 bp from pter
Size:	412,480 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PLCB4_HUMAN, Q15147 (See protein sequence)

Recommended Name: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4

Size: 1175 amino acids; 134464 Da

Cofactor: Calcium

Secondary accessions: B7ZLK6 Q17R56 Q5JYS8 Q5JYT0 Q5JYT3 Q5JYT4 Q9BQW5 Q9BQW6 Q9BQW8 Q9UJQ2

Alternative splicing: 3 isoforms: Q15147-1 Q15147-2 Q15147-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PLCB4: NX_Q15147

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q15147

4/17 DME Specific Peptides for PLCB4 (Q15147) (see all 17)

RVDSSNY

KQNEQAK

ISGQFLS

SSHNTYL

PLCB4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000924.3 NP_001166117.1 NP_877949.2

ENSEMBL proteins:

ENSP00000385805 ENSP00000412982 ENSP00000391614 ENSP00000395753 ENSP00000367754

ENSP00000367762 ENSP00000390616 ENSP00000334105 ENSP00000367734 ENSP00000278655

Reactome Protein details: Q15147
Human Recombinant Protein Products:

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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate (see all 2): PLCB4 OriGene Custom Protein Services for PLCB4
	GenScript Custom Purified and Recombinant Proteins Services for PLCB4
	Novus Biologicals PLCB4 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005626	insoluble fraction	--	--
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	--	--
GO:0005790	smooth endoplasmic reticulum	IEA	--

PLCB4 for ontologies About GeneDecksing

PLCB4 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for PLCB4 (PLC-beta 4)
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	GenScript Custom Superior Antibodies Services for PLCB4
	Search for Antibodies for PLCB4 at Abcam
	Browse Antibodies at Uscn
	ThermoFisher Antibody for PLCB4

Assay Products for PLCB4:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PLCB4
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PLCB4 for domains About GeneDecksing

5/12 InterPro domains/families (see all 12):

IPR015359 PLipase_C_EF-hand-like

IPR011992 EF-hand-like_dom

IPR001192 Pinositol_PLipase_C

IPR018029 C2_membr_targeting

IPR011993 PH_like_dom

Graphical View of Domain Structure for InterPro Entry Q15147

ProtoNet protein and cluster: Q15147

3 Blocks protein families:

IPB000008 C2 domain

IPB000909 Phosphatidylinositol-specific phospholipase C

IPB009535 Protein of unknown function DUF1154

UniProtKB/Swiss-Prot: PLCB4_HUMAN, Q15147

Similarity: Contains 1 C2 domain

Similarity: Contains 1 PI-PLC X-box domain

Similarity: Contains 1 PI-PLC Y-box domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PLCB4_HUMAN, Q15147

Function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3)

is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This form has a role in retina signal

transduction

Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate +

diacylglycerol

Genatlas biochemistry entry for PLCB4:

phospholipase C,beta 4,phosphoinositide specific,retinal,expressedin the cerebellum and with three isoforms with

specific expressions in the rat

Enzyme Number (IUBMB): EC 3.1.4.11¹ ²

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PLCB4 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLCB4
		8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate PLCB4 (see all 21):
		hsa-miR-30c hsa-miR-520d-5p hsa-miR-200a hsa-miR-1271 hsa-miR-30d hsa-miR-141 hsa-miR-30a hsa-miR-192*

		SwitchGear 3'UTR luciferase reporter plasmid: PLCB4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLCB4 (see all 7) OriGene shRNA RFP: PLCB4 OriGene siRNA: PLCB4
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLCB4

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PLCB4

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLCB4 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLCB4 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): PLCB4 (NM_000933)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLCB4
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLCB4

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PLCB4
		Search LifeMap BioReagents cell lines for PLCB4

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCB4

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	--
GO:0004629	phospholipase C activity	TAS	8530101
GO:0004871	signal transducer activity	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	--	--

PLCB4 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for PLCB4: Plcb4^tm1Tyo Plcb4^tm1Dwu Plcb4^tm1Hssh
     8 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Plcb4):

behavior/neurological	growth/size	mortality/aging	muscle	nervous system
no phenotypic analysis	skeleton	vision/eye

PLCB4 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/64 super-pathways (see all 64) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Development Angiotensin activation of ERK

8/9 pathways (see all 9)
Development Angiotensin activation of ERK	1.00	Development G-Proteins mediated regulation MARK-ERK signaling	0.66
Development_Angiotensin activation of ERK	0.98	Development_EDNRB signaling	0.54
Development_ACM2 and ACM4 activation of ERK	0.74	Development EDNRB signaling	0.54
Development ACM2 and ACM4 activation of ERK	0.74	Cholinergic synapse	0.30

Opioid Signalling

Opioid Signalling	1.00	Beta-agonist/Beta-blocker Pathway, Pharmacodynamics	0.35
G-protein mediated events	0.55	Glutamatergic synapse	0.31
PLC beta mediated events	0.54

Sweet Taste Signaling

Sweet Taste Signaling	1.00	Bitter Taste Signaling	0.44
Melatonin Signaling	0.72	Sperm Motility	0.36
Cellular Effects of Sildenafil	0.46

Development_A3 receptor signaling

	Development A3 receptor signaling	1.00			G-protein signaling_G-Protein alpha-q signaling cascades	0.53
	Development_A3 receptor signaling	1.00			G-protein signaling G-Protein alpha-q signaling cascades	0.53

Development_Endothelin-1/EDNRA transactivation of EGFR

	Development_Endothelin-1/EDNRA transactivation of EGFR	1.00			Cytoskeleton remodeling FAK signaling	0.41
	Development Endothelin-1/EDNRA transactivation of EGFR	1.00			Cytoskeleton remodeling_FAK signaling	0.41

Pathway sources
See GeneCards unified pathways
Show all pathways

5/18 EMD Millipore Pathways for PLCB4 (see all 18)

	Transcription Transcription factor Tubby signaling pathways
	Cytoskeleton remodeling FAK signaling
	Signal transduction IP3 signaling
	Signal transduction Activation of PKC via G-Protein coupled receptor
	Cell adhesion Integrin inside-out signaling

1 R&D Systems Pathway for PLCB4

Wnt Signaling Pathway

5/55 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PLCB4 (see all 55)

	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	Intracellular Calcium Signaling
	Visual Cycle in Retinal Rods
	Aldosterone Signaling in Epithelial Cells

5/19 GeneGo (Thomson Reuters) Pathways for PLCB4 (see all 19)

	Anandamide biosynthesis and metabolism
	Development Endothelin-1/EDNRA transactivation of EGFR
	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
	Development Angiotensin signaling via PYK2
	Signal transduction Activation of PKC via G-Protein coupled receptor

1 BioSystems Pathway for PLCB4

Alzheimers Disease

5/11 Reactome Pathways for PLCB4 (see all 11)

	GPCR downstream signaling
	Gastrin-CREB signalling pathway via PKC and MAPK
	Metabolism
	Signaling by GPCR
	Inositol phosphate metabolism

3 PharmGKB Pathways for PLCB4

	Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
	Proton Pump Inhibitor Pathway, Pharmacodynamics
	Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics

5/23 Kegg Pathways (Kegg details for PLCB4) (see all 23):

	Inositol phosphate metabolism
	Metabolic pathways
	Calcium signaling pathway
	Chemokine signaling pathway
	Phosphatidylinositol signaling system

PLCB4 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PLCB4

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/237 Interacting proteins for PLCB4 (Q15147³ ENSP00000334105⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 237)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DGKI	O75912³, ENSP00000288490⁴	I2D: score=1 STRING: ENSP00000288490
GNAQ	P50148³, ENSP00000286548⁴	I2D: score=1 STRING: ENSP00000286548
GRIN1	Q05586³, ENSP00000360616⁴	I2D: score=1 STRING: ENSP00000360616
VRK1	Q99986³	I2D: score=5
JUN	P05412³	I2D: score=2

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006629	lipid metabolic process	--	--
GO:0016042	lipid catabolic process	IEA	--
GO:0035556	intracellular signal transduction	IEA	--
GO:0043267	negative regulation of potassium ion transport	--	--

PLCB4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PLCB4 for compounds About GeneDecksing

EMD Millipore small molecules for PLCB4:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for PLCB4 available from Tocris Bioscience About this table

Compound	Action	CAS #
m-3M3FBS	Phospholipase C activator	[200933-14-8]
AACOCF3	Phospholipase A2 inhibitor	[149301-79-1]
U 73122	Phospholipase C inhibitor	[112648-68-7]
D609	Selective PC-PLC inhibitor	[83373-60-8]

10/1226 HMDB Compounds for PLCB4 (see all 1226) About this table

Compound	Synonyms	CAS #	PubMed Ids
DG(16:0e/18:0/0:0)	2-Octadecanoyl-1-hexadecyl-sn-glycerol (see all 2)	--	12486725
1-Phosphatidyl-D-myo-inositol	1-Phosphatidyl-1D-myo-inositol (see all 6)	--	--
Calcium	Ca (see all 2)	7440-70-2	--
DG(14:0/14:0/0:0)	DAG(14:0/14:0) (see all 9)	--	--
DG(14:0/14:1(9Z)/0:0)	DAG(14:0/14:1) (see all 15)	--	--
DG(14:0/15:0/0:0)	Diacylglycerol(29:0) (see all 9)	--	--
DG(14:0/16:0/0:0)	DAG(30:0) (see all 9)	--	--
DG(14:0/16:1(9Z)/0:0)	DG(30:1) (see all 15)	--	--
DG(14:0/18:0/0:0)	DG(14:0/18:0) (see all 9)	--	--
DG(14:0/18:1(11Z)/0:0)	Diacylglycerol (see all 15)	--	--

10/53 Novoseek chemical compound relationships for PLCB4 gene (see all 53) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
inositol 1,2-cyclic phosphate	85.3	2	9003188 (2)
lysosulfatide	77.6	2	14511654 (1), 11106499 (1)
phosphatidylinositol	77.1	110	8142343 (5), 8877813 (5), 11087348 (4), 1688581 (3) (see all 52)
phenyl agarose	67.3	1	15082230 (1)
inositol	65.3	13	2138615 (3), 9367761 (2), 9003188 (2), 8037672 (2) (see all 8)
phosphorothioate	48.6	1	9353901 (1)
sphingosylphosphorylcholine	47.9	2	14511654 (1), 11106499 (1)
glycolipid	45.5	3	10530519 (1), 1378423 (1)
octyl glucoside	44.2	1	2137335 (1)
phosphatidylcholine	43.4	15	7651363 (3), 11106499 (2), 9854030 (1), 7864373 (1) (see all 6)

Search CenterWatch for drugs/clinical trials and news about PLCB4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PLCB4 gene (3 alternative transcripts):

NM_000933.3 NM_001172646.1 NM_182797.2

Unigene Cluster for PLCB4:

Phospholipase C, beta 4

Hs.472101 [show with all ESTs]

Unigene Representative Sequence: NM_001172646

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000407043 ENST00000441846 ENST00000437503 ENST00000416836 ENST00000378493

ENST00000492632 ENST00000378501(uc021wam.1) ENST00000414679 ENST00000464199(uc002wnh.3)

ENST00000473151 ENST00000482123 ENST00000334005(uc010gbw.1) ENST00000378473(uc010gbx.3)

ENST00000278655(uc021wal.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PLCB4 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLCB4
		8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate PLCB4 (see all 21):
		hsa-miR-30c hsa-miR-520d-5p hsa-miR-200a hsa-miR-1271 hsa-miR-30d hsa-miR-141 hsa-miR-30a hsa-miR-192*

		SwitchGear 3'UTR luciferase reporter plasmid: PLCB4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLCB4 (see all 7) OriGene shRNA RFP: PLCB4 OriGene siRNA: PLCB4
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLCB4

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLCB4 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLCB4 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): PLCB4 (NM_000933)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLCB4
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLCB4

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PLCB4 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PLCB4
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLCB4
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLCB4

Additional cDNA sequence:

AK025027.1 AK054754.1 AK057634.1 AK122699.1 AK307482.1 AK307837.1 AL117633.1 BC117458.1

BC143868.1 BX648680.1 L41349.1

16 DOTS entries:

DT.99999654 DT.91871258 DT.95260576 DT.100767989 DT.97788357 DT.75164869 DT.405593 DT.75165902

DT.100837782 DT.95286533 DT.99957221 DT.99969182 DT.75120624 DT.91922509 DT.95316581 DT.97804914

24/197 AceView cDNA sequences (see all 197):

AI224105 CD677834 CD677612 CA867769 CA423974 AA242954 CN478655 CA314124

AI693226 T18615 AA331854 BQ549610 AL535114 CB250628 BM673516 BX414883

CA867300 AW009106 CF552030 BF447543 BX475126 AW517516 CR619695 AI432455

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PLCB4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAACCCGGT

About this image

PLCB4 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PLCB4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PLCB4

SOURCE GeneReport for Unigene cluster: Hs.472101

UniProtKB/Swiss-Prot: PLCB4_HUMAN, Q15147

Tissue specificity: Preferentially expressed in the retina

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLCB4 gene from 8/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PLCB4¹	phospholipase C, beta 4	84.68(n) 93.67(a)		416730 NM_001199435.1 NP_001186364.1
lizard (Anolis carolinensis)	Reptilia	PLCB4⁶	--	91(a)	1 ↔ 1	1(134864566-134959468)
African clawed frog (Xenopus laevis)	Amphibia	Xl.16486²	Xenopus laevis transcribed sequence with strong similarity more	82.09(n)		BJ063711.1
zebrafish (Danio rerio)	Actinopterygii	Dr.11155²	Transcribed sequence with moderate similarity to protein more	75.56(n)		CD752042.1
fruit fly (Drosophila melanogaster)	Insecta	norpA^{1 , 3}	olfaction 1-phosphatidylinositol-4,5-bisphosphate more³ no receptor potential A¹	48(a)³ 58.14(n)¹ 56.4(a)¹		1 4C1³ 31376¹ NM_001014720.1¹ NP_001014720.1¹
worm (Caenorhabditis elegans)	Secernentea	egl-8^{1 , 3}	phospholipase³ Protein EGL-8¹	48(a) (best of 2)³ 55.6(n)¹ 52.77(a)¹		V(20835-42998)³ 178537¹ NM_001026175.2¹ NP_001021346.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	ATPLC1⁶ PLC5⁶ (see all 9)	phosphoinositide phospholipase C 5 (see all 9)	25(a) 25(a) (see all 9)	many ↔ many many ↔ many (see all 9)	5(23704231-23706800) 5(23709529-23712131)
rice (Oryza sativa)	Liliopsida	-- -- (see all 4)	phospholipase C, putative, expressed (see all 4)	25(a) 25(a) (see all 4)	many ↔ many many ↔ many (see all 4)	7(29544833-29547989) 3(10024184-10026867)

ENSEMBL Gene Tree for PLCB4 (if available)
TreeFam Gene Tree for PLCB4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PLCB4 gene

PLCG2² PLCD4² PLCD1² PLCG1² PLCB2² PLCZ1² PLCH1² PLCB3²

PLCD3² PLCB1² PLCH2² PLCL1² PLCL2²

9 SIMAP similar genes for PLCB4 using alignment to 7 protein entries: PLCB4_HUMAN (see all proteins):

PLCB1 PLCB3 PLCB2 PLCD4 PLCD3 DKFZp686K101

PLCD1 PLCL2 PLCZ1

PLCB4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79826477^1,2	F,	--	9000313(+)	`CGGCCG/TGGAGA`	1	--	us2k¹		1		EA	120
rs6039371^1,2	C,H,	--	9000325(+)	`GGAGGA/CGGCGG`	1	--	us2k¹		7		NS EA NA WA	424
rs73895473^1,2	C,	--	9000512(+)	`CCAGGG/AACCAA`	1	--	us2k¹		1		WA	2
rs73895474^1,2	C,	--	9001899(+)	`CTGCAG/TTCATC`	1	--	int¹		2		WA	120
rs59644466^1,2	C,	--	9004242(+)	`TCATGC/TTCTCC`	1	--	int¹		1		WA	2
rs6118466^1,2	H	--	9004609(+)	`TCTGCC/TTGTTG`	1	--	int¹		4		NS EA	418
rs78512845^1,2		--	9004621(+)	`GAAATA/TAATAC`	1	--	int¹		0	--	--	--	--
rs58854834^1,2	C,	--	9004657(+)	`GCAGTG/TACTTT`	1	--	int¹		2		WA	120
rs6077479^1,2	H	--	9005287(+)	`AGATCC/TTTATG`	1	--	int¹		4		NS EA	418
rs6086752^1,2	H	--	9005442(+)	`AAAACC/TTTCAA`	1	--	int¹		4		NS EA	418

HapMap Linkage Disequilibrium report for PLCB4 (9049410 - 9299410 bp, first 250kb of PLCB4)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 9 variations for PLCB4
4 CNVs: 73466 4093 50726 73469
5 Indels: 73465 73468 33713 73467 12155
Human Gene Mutation Database (HGMD): PLCB4

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PLCB4 for disorders About GeneDecksing

OMIM gene information: 600810 OMIM disorders: --

UniProtKB/Swiss-Prot: PLCB4_HUMAN, Q15147

Defects in PLCB4 are the cause of auriculocondylar syndrome type 2 (ARCND2) [MIM:614669]. ARCND2 is an

autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild

to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that

consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark

ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular

tags, and microstomia

20/29 diseases for PLCB4 (see all 29): About MalaCards

scrapie myocardial infarction squamous cell carcinoma chagas disease

pemphigus neurologic diseases trypanosomiasis paralysis

huntington's disease meningioma colon adenocarcinoma pertussis

adenocarcinoma gingivitis carcinoma pharyngitis

melanoma breast cancer cholesterol neuroblastoma

10/11 Novoseek disease relationships for PLCB4 gene (see all 11) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
meningioma	9.05	3	10530519 (1), 8988237 (1), 7478260 (1)
cancer	5.22	1	16612594 (1)
carcinoma squamous cell	0	1	11422178 (1)
necrosis	0	1	16387297 (1)
glioma	0	1	8710179 (1)
colon carcinoma	0	1	8215392 (1)
adenocarcinoma	0	1	1316230 (1)
ovarian cancer	0	3	1962150 (2), 1534320 (1)
tumors	0	8	7757981 (3), 1534320 (1), 16612594 (1), 16387297 (1) (see all 6)
carcinoma	0	1	1534320 (1)

Human Genome Epidemiology (HuGE) Navigator: PLCB4 (13 documents)

Export disorders for PLCB4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PLCB4 gene, integrated from 9 sources (see all 241):
(articles sorted by number of sources associating them with PLCB4)

Utopia: connect your pdf to the dynamic
world of online information

cDNA sequence and gene locus of the human retinal phosphoinositide- specific phospholipase-C beta 4 (PLCB4). (PubMed id 8530101)^{1, 2, 3} Alvarez R.A.... Baehr W. (1995)
A human homeotic transformation resulting from mutatio ns in PLCB4 and GNAI3 causes auriculocondylar syndrome. (PubMed id 22560091)^{1, 2} Rieder M.J....Cunningham M.L. (2012)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Circadian clock gene polymorphisms in alcohol use dis orders and alcohol consumption. (PubMed id 20554694)¹ Kovanen L....Partonen T. (2010)
Phospholipase Cbeta4 isozyme is expressed in human, r at, and murine heart left ventricles and in HL-1 cardiomyocytes. (PubMed id 19856080)¹ Otaegui D....Garro M.A. (2010)
CLOCK is suggested to associate with comorbid alcohol use and depressive disorders. (PubMed id 20180986)¹ SjAPholm L.K....Partonen T. (2010)
Comprehensive copy number variant (CNV) analysis of n euronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)¹ Saus E....Estivill X. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5332	HGNC: 9059	AceView: PLCB4	Ensembl:ENSG00000101333	euGenes: HUgn5332
ECgene: PLCB4	Kegg: 5332	H-InvDB: PLCB4

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PLCB4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PLCB4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PLCB4 gene:
Search GeneIP for patents involving PLCB4

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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PLCB4 Gene

phospholipase C, beta 4

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PLCB4 Gene

phospholipase C, beta 4

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