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FLASH GENE
Symbol PLCB4 contributors: mct - updated : 19-05-2012
HGNC name phospholipase C, beta 4
HGNC id 9059
Corresponding disease
ACDS2 auriculo-condylar syndrome 2
Location 20p12.2      Physical location : 9.049.700 - 9.461.460
Synonym name
  • 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate
  • inositoltrisphosphohydrolase
  • monophosphatidylinositol phosphodiesterase
  • phosphoinositidase C
  • Synonym symbol(s) RP4-811H13.1, FLJ16169, PI-PLC, PLC-beta-4
    EC.number 3.1.4.11
    DNA
    TYPE functioning gene
    STRUCTURE 411.76 kb     38 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - D20S907 - D20S177 - D20S851 - D20S594E - D20S580E - D20S175 - D20S917 - PLCB4 - D20S723 - D20S958 - D20S5 /D20S503 - D20S506 - cen
    Authors Pollet (97)
    Physical map
    FLJ25067 20p13 hypothetical protein FLJ25067 CHGB 20p12.3 chromogranin B (secretogranin 1) LOC391230 20 similar to ankyrin repeat domain protein 15; kidney ankyrin repeat-containing protein CGI-09 20p13 CGI-09 protein MCM8 20p12.3 MCM8 minichromosome maintenance deficient 8 (S. cerevisiae) C20orf155 20p13-p12.3 chromosome 20 open reading frame 155 C20orf75 20p13 chromosome 20 open reading frame 75 C20orf42 20p12.3 chromosome 20 open reading frame 42 LOC219414 20p12.3 similar to TAR DNA binding protein LOC149844 20p12.3 NS1-associated protein 1 pseudogene BMP2 20p12 bone morphogenetic protein 2 pFUSIP1 20p12.3 FUSIP1 pseudogene HAO1 20p12.3 hydroxyacid oxidase (glycolate oxidase) 1 DJ971N18.2 20p12 hypothetical protein DJ971N18.2 PHKBP1 20p12.3-20p12.2 phosphorylase kinase, beta pseudogene 1 PLCB1 20p12 phospholipase C, beta 1 (phosphoinositide-specific) PLCB4 20p12 phospholipase C, beta 4 C20orf103 20p12 chromosome 20 open reading frame 103 PAK7 20p12 p21(CDKN1A)-activated kinase 7 ANKRD5 20pter-q11.23 ankyrin repeat domain 5 SNAP25 20p12-p11.2 synaptosomal-associated protein, 25kDa RPL23AP6 20p12.2 ribosomal protein L23a pseudogene 6 LOC284773 20p12.2 similar to hypothetical protein FLJ10498 MKKS 20p12 McKusick-Kaufman syndrome LOC128710 20p12.2 similar to RIKEN cDNA 2210009G21 JAG1 20p12.1-p11.23 jagged 1 (Alagille syndrome) FAT1P1 20 FAT tumor suppressor homolog 1 (Drosophila) pseudogene 1 RPS11P1 20p12.1 ribosomal protein S11, pseudogene 1 PGAM3P 20p12.1 phosphoglycerate mutase 3, pseudogene BTBD3 20p12.1 BTB (POZ) domain containing 3 PA2G4P2 20p12.1 proliferation-associated 2G4 pseudogene 2
    regionally located next to PLCB1
    RNA
    TRANSCRIPTS type messenger
    text with three isoforms specifically expressed in the rat (Alvarez)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    38 - 5640 - 1187 - 1999 9931434
    36 - 5425 - 1194 - 1999 9931434
    36 - 5451 134.5 1175 - 1999 9931434
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Digestivesalivary gland   highly
    Hearing/Equilibriumear   highly
    Nervousbrainhindbraincerebellum  
    Reproductivefemale systembreastmammary gland highly
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • phosphatidylinositol-specific phospholipase C family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • catalyzing the hydrolysis of phosphatidylinositol 4,5 biphosphate to generate diacylglycerol and inositol 1,4,5 triphosphate
  • mediating a wide variety of cellular stimuli
  • signaling of phospholipase C beta 4 is not essential for the survival of midbrain dopaminergic neurons
  • in the medial septum is involved in controlling cholinergic theta oscillation and cholinergic theta rhythm plays a critical role in suppressing anxiety
  • significant contribution of PSMD3-CSF3 and PLCB4 loci to the regulation of neutrophil count
  • PLCB4 and GNAI3 are core signaling molecules of the endothelin-1-distal-less homeobox 5 and 6 (EDN1-DLX5/DLX6) pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACDS2
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • PLCbeta4-deficient mice is a potential animal model for absence seizures