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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PLCB4 Gene

protein-coding   GIFtS: 66
GCID: GC20P009024

Phospholipase C, Beta 4

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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-42 3     inositoltrisphosphohydrolase2
EC 3.1.4.113 8     Monophosphatidylinositol Phosphodiesterase2
1-phosphatidyl-D-myo-inositol-4,5-bisphosphate2     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 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 of many extracellular signals in the retina. Multiple transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Feb 2010)

GeneCards Summary for PLCB4 Gene: 
PLCB4 (phospholipase C, beta 4) is a protein-coding gene. Diseases associated with PLCB4 include auriculocondylar syndrome 2, and ankylosis, and among its related super-pathways are fMLP Pathway and G-protein mediated events. GO annotations related to this gene include phosphatidylinositol phospholipase C activity and calcium ion binding. An important paralog of this gene is PLCD4.

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 Gene:
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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011387.8  NC_018931.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for PLCB4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PLCB4 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000924.3  NP_001166117.1  NP_877949.2  

    ENSEMBL proteins: 
     ENSP00000385805   ENSP00000412982   ENSP00000391614   ENSP00000395753   ENSP00000390616  
     ENSP00000367754   ENSP00000367762   ENSP00000334105   ENSP00000367734   ENSP00000278655  
    Reactome Protein details: Q15147
    Human Recombinant Protein Products for PLCB4: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for PLCB4
    OriGene Custom MassSpec 
    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 Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005790smooth endoplasmic reticulum IEA--
    GO:0005829cytosol TAS--
    GO:0014069postsynaptic density IEA--
    GO:0030425dendrite IEA--

    PLCB4 for ontologies           About GeneDecksing



    PLCB4 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for PLCB4
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for PLCB4
    Search LSBio for Antibodies for PLCB4 

    Assay Products for PLCB4: 
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: PLCβ4 
    Phosphoinositide-specific phospholipase C

    5/12 InterPro protein domains (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 domains:
    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


    PLCB4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004435phosphatidylinositol phospholipase C activity IEA--
    GO:0004629phospholipase C activity TAS8530101
    GO:0004871signal transducer activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    PLCB4 for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-outs for PLCB4: Plcb4tm1Tyo Plcb4tm1Dwu Plcb4tm1Hssh

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PLCB4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PLCB4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLCB4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PLCB4 

    miRNA
    Products:
        
    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 plasmidPLCB4 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PLCB4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLCB4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PLCB4
    Sirion Biotech Customized adenovirus for overexpression of PLCB4

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for PLCB4 (see all 14)
    OriGene ORF clones in mouse, rat for PLCB4
    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
    Sirion Biotech Customized lentivirus for stable overexpression of PLCB4 
                         Customized lentivirus expression plasmids for stable overexpression of PLCB4 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCB4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PLCB4 About   (see all 62)                                                                                              See pathways by source

    SuperPathContained pathways About
    1fMLP Pathway
    CCR3 Pathway in Eosinophils0.44
    CXCR4 Pathway0.39
    fMLP Pathway0.43
    Signal transduction Calcium signaling0.34
    Signal transduction Activation of PKC via G-Protein coupled receptor0.42
    Huntington's Disease Pathway0.30
    2Ca-dependent events
    PLC beta mediated events0.65
    Opioid Signalling0.55
    G-protein mediated events0.64
    Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.35
    3Development Endothelin-1/EDNRA signaling
    Development Endothelin-1/EDNRA transactivation of EGFR0.41
    GnRH signaling pathway0.38
    Cytoskeleton remodeling FAK signaling0.41
    Estrogen signaling pathway0.34
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.47
    Alzheimers Disease0.44
    Alzheimer's disease0.46
    5Wnt signaling pathway
    Wnt signaling pathway0.40
    Wnt Signaling Pathway0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

    5/30         Kegg Pathways  (Kegg details for PLCB4) (see all 30):
        Inositol phosphate metabolism
    Metabolic pathways
    Calcium signaling pathway
    Chemokine signaling pathway
    Phosphatidylinositol signaling system


    PLCB4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM 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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DGKIO759123, ENSP000002884904I2D: score=1 STRING: ENSP00000288490
    GNAQP501483, ENSP000002865484I2D: score=1 STRING: ENSP00000286548
    GRIN1Q055863, ENSP000003606164I2D: score=1 STRING: ENSP00000360616
    VRK1Q999863I2D: score=5 
    JUNP054123I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0007165signal transduction ----
    GO:0016042lipid catabolic process IEA--
    GO:0035556intracellular signal transduction IEA--
    GO:0043647inositol phosphate metabolic process TAS--

    PLCB4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    CompoundAction CAS #
    FIPIPhospholipase D inhibitor[939055-18-2]
    m-3M3FBSPhospholipase C activator[200933-14-8]
    Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist [77286-66-9]
    U 73343Inactive analog of U 73122 (Cat. No. 1268)[142878-12-4]
    D609Selective PC-PLC inhibitor[83373-60-8]

    10/1226 HMDB Compounds for PLCB4 (see all 1226)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(16:0e/18:0/0:0)2-Octadecanoyl-1-hexadecyl-sn-glycerol (see all 2)--12486725
    1-Phosphatidyl-D-myo-inositol1-Phosphatidyl-1D-myo-inositol (see all 6)----
    CalciumCa (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 inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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 ENST00000414679
    ENST00000378493 ENST00000492632 ENST00000378501(uc021wam.1) ENST00000464199(uc002wnh.3)
    ENST00000473151 ENST00000482123 ENST00000334005(uc010gbw.1) ENST00000378473(uc010gbx.3)
    ENST00000278655(uc021wal.1)
    miRNA
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    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 plasmidPLCB4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PLCB4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLCB4
    Clone
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    OriGene clones in human, mouse for PLCB4 (see all 14)
    OriGene ORF clones in mouse, rat for PLCB4
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of PLCB4 
                         Customized lentivirus expression plasmids for stable overexpression of PLCB4 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLCB4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLCB4

    Additional mRNA 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):

    BE465309 F02266 AI378197 AI432455 AL535114 BQ549610 BM673516 BF447543 
    T18615 BX475126 BX414883 CB250628 CA314124 CD677612 CD677834 CA423974 
    CA867769 AA242954 AI693226 CN478655 AI733066 AW517516 F08870 AI224105 

    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)      PLCB4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAACCCGGT
    PLCB4 Expression
    About this image


    PLCB4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
             cerebellum   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem ES-209, Meso-prx/latp Progenitor
             skeleton/axial skeleton   
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem ES-209, Meso-prx/latp Progenitor
             skeleton/axial skeleton   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   

    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

        SABiosciences Custom PCR Arrays for PLCB4
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCB4

    (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 animals.

    Orthologs for PLCB4 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plcb41 , 5 phospholipase C, beta 41, 5 91.09(n)1
    98.04(a)1
      2 (66.64 cM)5
    187981  NM_013829.21  NP_038857.11 
     1356590115 
    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
    phospholipase C, beta 4
    91(a)
    1 ↔ 1
    1(134861937-135024034)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.164862 Xenopus laevis transcribed sequence with strong similarity to protein spQ15147 (H.sapiens) PIB4_HUMAN 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta 4 (PLC-beta-4) (Phospholipase C-beta-4) less 82.09(n)    BJ063711.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.111552 Transcribed sequence with moderate similarity to protein spQ15147 (H.sapiens) PIB4_HUMAN 1-PHOSPHATIDYLINOSITOL-4,5-BISPHOSPHATE PHOSPHODIESTERASE BETA 4 (PLC-BETA-4) (PHOSPHOLIPASE C-BETA-4) less 75.56(n)    CD752042.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta norpA1 , 3 olfaction
    1-phosphatidylinositol-4,5-bisphosphate
    phosphodiesterase less3
    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-81 , 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 


    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
    PLCD42  PLCD12  PLCE12  PLCB22  PLCZ12  PLCH12  PLCB32  PLCD32  
    PLCH22  PLCB12  PLCL22  PLCL12  
    8 SIMAP similar genes for PLCB4 using alignment to 7 protein entries:     PLCB4_HUMAN (see all proteins):
    PLCB1    PLCB3    PLCB2    PLCD4    PLCD3    DKFZp686K101
    PLCD1    PLCL2

    PLCB4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/8081 SNPs in PLCB4 are shown (see all 8081)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0685624
    Auriculocondylar syndrome 2 (ARCND2)4--see VAR_0685622 Y C mis40--------
    VAR_0685614
    Auriculocondylar syndrome 2 (ARCND2)4--see VAR_0685612 R H mis40--------
    VAR_0685594
    Auriculocondylar syndrome 2 (ARCND2)4--see VAR_0685592 N T mis40--------
    VAR_0685634
    Auriculocondylar syndrome 2 (ARCND2)4--see VAR_0685632 N H mis40--------
    VAR_0685604
    Auriculocondylar syndrome 2 (ARCND2)4--see VAR_0685602 R C mis40--------
    rs1885649031,2
    --8995723(+) AAGCTC/GGTCTC 1 -- us2k10--------
    rs1998887811,2
    C--8995725(+) CTGGT-/CT    
       CGAAC
    CTCGA
    1 -- us2k10--------
    rs1512224311,2
    C--8995770(+) TCCCAA/CAGTGC 1 -- us2k10--------
    rs1931472221,2
    --8995800(+) CACCGC/TGCCCA 1 -- us2k10--------
    rs1403184921,2
    C--8995802(+) CCGCGC/TCCAGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PLCB4 (9049410 - 9299410 bp, first 250kb of PLCB4)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 variations for PLCB4 (see all 23):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2671466CNV Deletion23128226
    nsv821585CNV Deletion20802225
    esv2660714CNV Deletion23128226
    esv2722166CNV Deletion23290073
    esv2722165CNV Deletion23290073
    nsv178973CNV Insertion16902084
    nsv3284CNV Insertion18451855
    esv1126957CNV Insertion17803354
    nsv528402CNV Loss19592680
    esv23697CNV Loss19812545


    Human Gene Mutation Database (HGMD): PLCB4
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for PLCB4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600810    OMIM disorders: --

    UniProtKB/Swiss-Prot: PLCB4_HUMAN, Q15147
  • Auriculocondylar syndrome 2 (ARCND2) [MIM:614669]: 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/31 diseases for PLCB4 (see all 31):    About MalaCards
    auriculocondylar syndrome 2    ankylosis    scrapie    pemphigus
    trypanosomiasis    neurologic diseases    paralysis    chagas disease
    meningioma    cleft palate    colon adenocarcinoma    pertussis
    gingivitis    cholera    huntington's disease    myocardial infarction
    adenocarcinoma    melanoma    glioblastoma    alcoholism


    PLCB4 for disorders           About GeneDecksing

    10/11 Novoseek inferred 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)

    Genetic Association Database (GAD): PLCB4
    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 245):
    (articles sorted by number of sources associating them with PLCB4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. Circadian clock gene polymorphisms in alcohol use dis orders and alcohol consumption. (PubMed id 20554694)1, 4 Kovanen L....Partonen T. (2010)
    4. Comprehensive copy number variant (CNV) analysis of n euronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Common variations in PSMD3-CSF3 and PLCB4 are associa ted with neutrophil count. (PubMed id 20172861)1, 4 Okada Y....Kamatani N. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. Polymorphisms in innate immunity genes and patients r esponse to dendritic cell-based HIV immuno-treatment. (PubMed id 20056178)1, 4 Segat L....Crovella S. (2010)
    9. NPAS2 and PER2 are linked to risk factors of the meta bolic syndrome. (PubMed id 19470168)1, 4 Englund A....Partonen T. (2009)
    10. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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
    NameDescription
    PharmGKB entry for PLCB4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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