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PLCB4 Gene

protein-coding   GIFtS: 66
GCID: GC20P009024

Phospholipase C, Beta 4

  See PLCB4-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)
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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
ARCND22 5     Phosphoinositidase C2
1-phosphatidyl-D-myo-inositol-4,5-bisphosphate2     Triphosphoinositide Phosphodiesterase2
1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Beta-42     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 auriculocondylar syndrome 1. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011387.9  NC_018931.2  
Regulatory elements:
   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 Chromatin IP Primers for PLCB4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PLCB4 (Q15147) (see all 17)
     RVDSSNY  KQNEQAK  ISGQFLS  SSHNTYL 


    See PLCB4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    PLCB4 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    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.

     
    Search eBioscience for Proteins for PLCB4 

     
    Search antibodies-online for proteins for PLCB4 

     
    antibodies-online peptides for PLCB4

    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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    OriGene Custom Antibody Services for PLCB4
    Abcam antibodies for PLCB4
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for PLCB4
    antibodies-online antibodies for PLCB4 (2 products) 

    PLCB4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PLCB4
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for PLCB4 
    antibodies-online kits for PLCB4 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: PLCbeta4
    Phosphoinositide-specific phospholipase C

    Selected InterPro protein domains (see all 11):
     IPR015359 PLipase_C_EF-hand-like
     IPR011992 EF-hand-dom_pair
     IPR001192 PI-PLC_fam
     IPR028404 PLC_beta4/NorpA
     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


    Find genes that share domains with PLCB4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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 ----
         
    Find genes that share ontologies with PLCB4           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Plcb4):
     behavior/neurological  growth/size/body  mortality/aging  muscle  nervous system 
     no phenotypic analysis  skeleton  vision/eye 

    Find genes that share phenotypes with PLCB4           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for PLCB4

    miRNA
    Products:
        
    miRTarBase miRNAs that target PLCB4:
    hsa-mir-26b-5p (MIRT028848), hsa-mir-9-5p (MIRT021355)

    Block miRNA regulation of human, mouse, rat PLCB4 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for PLCB4
    Predesigned siRNA for gene silencing in human, mouse, rat PLCB4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PLCB4

    Clone
    Products:
         
    OriGene clones in human, mouse for PLCB4 (see all 15)
    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

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PLCB4
    Browse ESI BIO Cell Lines and PureStem Progenitors for PLCB4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCB4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    endoplasmic reticulum2
    nucleus2
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    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--

    Find genes that share ontologies with PLCB4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PLCB4 About   (see all 65)  
    See pathways by source

    SuperPathContained pathways About
    1fMLP Pathway
    CCR3 Pathway in Eosinophils0.44
    CXCR4 Pathway0.39
    fMLP Pathway0.43
    Huntington's Disease Pathway0.30
    Signal transduction Activation of PKC via G Protein coupled receptor0.42
    2Development Endothelin 1 EDNRA signaling
    Development Endothelin 1 EDNRA transactivation of EGFR0.41
    Inflammatory mediator regulation of TRP channels0.37
    Cytoskeleton remodeling FAK signaling0.41
    Estrogen signaling pathway0.34
    GnRH signaling pathway0.38
    3Ca-dependent events
    PLC beta mediated events0.67
    Opioid Signalling0.54
    G-protein mediated events0.65
    Signal transduction Calcium signaling0.35
    4Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    5Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    Wnt Signaling Pathways0.40


    Find genes that share SuperPaths with PLCB4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for PLCB4
        Wnt Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected 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

    3 Reactome Pathways for PLCB4
        PLC beta mediated events
    G alpha (q) signalling events
    Synthesis of IP3 and IP4 in the cytosol

    3 PharmGKB Pathways for PLCB4
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics
    Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for PLCB4) (see all 35):
        Inositol phosphate metabolism
    Metabolic pathways
    Rap1 signaling pathway
    Calcium signaling pathway
    Chemokine signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLCB4
    Interactions:

        Search GeneGlobe Interaction Network for PLCB4

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

    Selected Interacting proteins for PLCB4 (Q151473 ENSP000003341054) via UniProtKB, MINT, STRING, and/or I2D (see all 262)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB1P494073, ENSP000003771414I2D: score=1 STRING: ENSP00000377141
    CRY2Q49AN03, ENSP000004067514I2D: score=1 STRING: ENSP00000406751
    DGKIO759123, ENSP000002884904I2D: score=1 STRING: ENSP00000288490
    GNAQP501483, ENSP000002865484I2D: score=1 STRING: ENSP00000286548
    GRIN1Q055863, ENSP000003606164I2D: score=1 STRING: ENSP00000360616
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0007165signal transduction ----
    GO:0007602phototransduction ----
    GO:0016042lipid catabolic process IEA--
    GO:0035556intracellular signal transduction IEA--

    Find genes that share ontologies with PLCB4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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]

    Selected 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)----

    Selected 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)



    Find genes that share compounds with PLCB4           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Block miRNA regulation of human, mouse, rat PLCB4 using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for PLCB4
    Predesigned siRNA for gene silencing in human, mouse, rat PLCB4
    Clone
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    OriGene clones in human, mouse for PLCB4 (see all 15)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLCB4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLCB4
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PLCB4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PLCB4
      QuantiTect SYBR Green Assays in human, mouse, rat PLCB4
      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 

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PLCB4 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)
             Trachea
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    PLCB4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLCB4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.472101

    UniProtKB/Swiss-Prot: PLCB4_HUMAN, Q15147
    Tissue specificity: Preferentially expressed in the retina

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PLCB4 gene from Selected 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
    egl-81
    48(a)
    (best of 2)3
    55.6(n)1
    52.85(a)1
      V(20835-42998)3
    1785371  NM_001026175.31  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)
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    Paralogs for PLCB4 gene
    PLCD42  PLCD12  PLCB22  PLCZ12  PLCH12  PLCB32  PLCD32  PLCH22  
    PLCB12  PLCL22  PLCL12  
    8 SIMAP similar genes for PLCB4 using alignment to 6 protein entries:     PLCB4_HUMAN (see all proteins):
    PLCB1    PLCB3    PLCD4    PLCB2    PLCD3    DKFZp686K101
    PLCD1    PLCL2

    Find genes that share paralogs with PLCB4           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PLCB4 (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) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PLCB4
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600810   
    OMIM disorders: 614669  
    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

  • 3 diseases for PLCB4:    
    About MalaCards
    auriculocondylar syndrome 2    auriculocondylar syndrome 1    struma ovarii


    Find genes that share disorders with PLCB4           About GenesLikeMe

    Selected 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)
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    PubMed articles for PLCB4 gene, integrated from 10 sources (see all 246):
    (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. (Genomics 1995)
    2. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. (PubMed id 22560091)1, 2 Rieder M.J.... Cunningham M.L. (Am. J. Hum. Genet. 2012)
    3. Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption. (PubMed id 20554694)1, 4 Kovanen L....Partonen T. (Alcohol Alcohol. 2010)
    4. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (J Psychiatr Res 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. (Mol. Med. 2010)
    6. Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count. (PubMed id 20172861)1, 4 Okada Y....Kamatani N. (Hum. Mol. Genet. 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PubMed id 20056178)1, 4 Segat L....Crovella S. (Vaccine 2010)
    9. NPAS2 and PER2 are linked to risk factors of the metabolic syndrome. (PubMed id 19470168)1, 4 Englund A....Partonen T. (J Circadian Rhythms 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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5332 HGNC: 9059 AceView: PLCB4 Ensembl:ENSG00000101333 euGenes: HUgn5332
    ECgene: PLCB4 Kegg: 5332 H-InvDB: PLCB4

    (According to HUGE)
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      --

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

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    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.)
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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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