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    PLCD4 phospholipase C delta 4 [ Homo sapiens (human) ]

    Gene ID: 84812, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PLCD4provided by HGNC
    Official Full Name
    phospholipase C delta 4provided by HGNC
    Primary source
    HGNC:HGNC:9062
    See related
    Ensembl:ENSG00000115556 MIM:605939; AllianceGenome:HGNC:9062
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [provided by RefSeq, Jan 2011]
    Expression
    Broad expression in esophagus (RPKM 2.6), testis (RPKM 2.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLCD4 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218607899..218637175)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219094436..219123729)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219472622..219501898)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 37 Neighboring gene NANOG hESC enhancer GRCh37_chr2:219366267-219366838 Neighboring gene RN7SK pseudogene 38 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:219432917-219433544 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:219433545-219434172 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:219442335-219442835 Neighboring gene CCR4-NOT transcription complex subunit 9 Neighboring gene RNA, U6 small nuclear 136, pseudogene Neighboring gene uncharacterized LOC124906133 Neighboring gene tRNA-Gln (anticodon CTG) 16-1 Neighboring gene zinc finger protein 142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17128 Neighboring gene BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone Neighboring gene ring finger protein 25

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. PLCE1 Promotes the Invasion and Migration of Esophageal Cancer Cells by Up-Regulating the PKCα/NF-κB Pathway. Li Y, et al. Yonsei Med J, 2018 Dec. PMID 30450849, Free PMC Article
    2. Phospholipase C delta 4 (PLCδ4) is a nuclear protein involved in cell proliferation and senescence in mesenchymal stromal stem cells. Kunrath-Lima M, et al. Cell Signal, 2018 Sep. PMID 29859928, Free PMC Article
    3. Assignment of the human PLC delta4 gene (PLCD4) to human chromosome band 2q35 by fluorescence in situ hybridization. Kim H, et al. Cytogenet Cell Genet, 1999. PMID 10702683
    4. Phospholipase C delta-4 overexpression upregulates ErbB1/2 expression, Erk signaling pathway, and proliferation in MCF-7 cells. Leung DW, et al. Mol Cancer, 2004 May 13. PMID 15140260, Free PMC Article
    5. Identification and analysis of the promoter region of the human PLC-delta4 gene. Chae SW, et al. Mol Biol Rep, 2007 Jun. PMID 17394098

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PLCdelta4 knockdown demonstrated that it is essential for hASC proliferation, without inducing cell death. An increase of cells in G1, and a reduction of cells on interphase and G2/M in knockdown cells were seen.
      Title: Phospholipase C delta 4 (PLCδ4) is a nuclear protein involved in cell proliferation and senescence in mesenchymal stromal stem cells.
    2. PLCD4 functions as a nonreceptor activator of G-proteins.
      Title: A biochemical and genetic discovery pipeline identifies PLCδ4b as a nonreceptor activator of heterotrimeric G-proteins.
    3. PLCE1 activated NF-kappaB [nuclear factor kappa B ] signaling by up-regulating PKCalpha [protein kinase C alpha ], which could promote invasion and migration of esophageal cancer cells.
      Title: PLCE1 Promotes the Invasion and Migration of Esophageal Cancer Cells by Up-Regulating the PKCα/NF-κB Pathway.
    4. Here, the authors report that the zebrafish/human phosphatidylinositol transfer protein Sec14l3/SEC14L2 act as GTPase proteins to transduce Wnt signals from Frizzled to phospholipase C (PLC).
      Title: The Sec14-like phosphatidylinositol transfer proteins Sec14l3/SEC14L2 act as GTPase proteins to mediate Wnt/Ca(2+) signaling.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    7. Serial deletion analysis identified the core PLC-delta4 promoter region as being between -402 and -67, in which an E-box and an AP-1 binding site played important roles in the promoter activity.
      Title: Identification and analysis of the promoter region of the human PLC-delta4 gene.
    8. PLCdelta(1) and PLCdelta(4) are probably differentially regulated in distinct cellular compartments by PI(4,5)P(2) and the PH domain of PLCdelta(4) does not act as a localization signal
      Title: The pleckstrin homology domain of phosphoinositide-specific phospholipase Cdelta4 is not a critical determinant of the membrane localization of the enzyme.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 envelope glycoproteins gp120 and gp160 directly and specifically impair the CD3/TcR-mediated activation of phospholipase C (PLC) via the CD4 molecule in uninfected T cells PubMed
    Tat tat HIV-1 Tat induces release of calcium and TNF-alpha production, an effect mediated at least in part by activation of phospholipase C PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC12837

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-protein alpha-subunit binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol phospholipase C activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acrosome reaction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in small GTPase-mediated signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4
    Names
    PLC delta4
    phosphoinositide phospholipase C-delta-4
    NP_116115.1
    XP_005246970.1
    XP_011510314.1
    XP_024308950.1
    XP_047302028.1
    XP_047302030.1
    XP_047302031.1
    XP_047302032.1
    XP_047302033.1
    XP_047302034.1
    XP_054200206.1
    XP_054200207.1
    XP_054200208.1
    XP_054200209.1
    XP_054200210.1
    XP_054200211.1
    XP_054200212.1
    XP_054200213.1
    XP_054200214.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_032726.4 → NP_116115.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4

      See identical proteins and their annotated locations for NP_116115.1

      Status: REVIEWED

      Source sequence(s)
      AC012510, BC006355, BP361394
      Consensus CDS
      CCDS46516.1
      UniProtKB/Swiss-Prot
      Q53FS8, Q9BRC7
      UniProtKB/TrEMBL
      B7Z5V4
      Related
      ENSP00000388631.2, ENST00000450993.7
      Conserved Domains (5) summary
      cd00275
      Location:626 → 751
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd13363
      Location:18 → 133
      PH_PLC_delta; Phospholipase C-delta (PLC-delta) pleckstrin homology (PH) domain
      cd15898
      Location:138 → 167
      EFh_PI-PLC; EF-hand motif [structural motif]
      cl14615
      Location:289 → 596
      PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily
      cl28895
      Location:138 → 277
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      218607899..218637175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446072.1 → XP_047302028.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X1

    2. XM_047446075.1 → XP_047302031.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X1

    3. XM_047446076.1 → XP_047302032.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X2

    4. XM_011512012.2 → XP_011510314.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X3

      Conserved Domains (8) summary
      cd00275
      Location:658 → 809
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      PLN02222
      Location:207 → 765
      PLN02222; phosphoinositide phospholipase C 2
      cd13363
      Location:18 → 133
      PH_PLC_delta; Phospholipase C-delta (PLC-delta) pleckstrin homology (PH) domain
      pfam00169
      Location:17 → 123
      PH; PH domain
      pfam09279
      Location:207 → 289
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
      pfam13499
      Location:143 → 199
      EF-hand_7; EF-hand domain pair
      pfam14788
      Location:153 → 202
      EF-hand_10; EF hand
      cl14615
      Location:289 → 628
      PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily

    5. XM_024453182.2 → XP_024308950.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X5

      UniProtKB/TrEMBL
      C9JEA7
      Related
      ENSP00000396185.1, ENST00000432688.5
      Conserved Domains (4) summary
      cd00275
      Location:658 → 783
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd13363
      Location:18 → 133
      PH_PLC_delta; Phospholipase C-delta (PLC-delta) pleckstrin homology (PH) domain
      cd16219
      Location:138 → 277
      EFh_PI-PLCdelta4; EF-hand motif found in phosphoinositide phospholipase C delta 4 (PI-PLC-delta4)
      cl14615
      Location:289 → 628
      PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily

    6. XM_005246913.3 → XP_005246970.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X6

      UniProtKB/TrEMBL
      B7Z5V4
      Conserved Domains (8) summary
      cd00275
      Location:626 → 777
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      PLN02222
      Location:207 → 733
      PLN02222; phosphoinositide phospholipase C 2
      cd13363
      Location:18 → 133
      PH_PLC_delta; Phospholipase C-delta (PLC-delta) pleckstrin homology (PH) domain
      pfam00169
      Location:17 → 123
      PH; PH domain
      pfam09279
      Location:207 → 289
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
      pfam13499
      Location:143 → 199
      EF-hand_7; EF-hand domain pair
      pfam14788
      Location:153 → 202
      EF-hand_10; EF hand
      cl14615
      Location:289 → 596
      PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily

    7. XM_047446077.1 → XP_047302033.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X4

    8. XM_047446078.1 → XP_047302034.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X7

    9. XM_047446074.1 → XP_047302030.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219094436..219123729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344231.1 → XP_054200206.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X1

    2. XM_054344233.1 → XP_054200208.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X1

    3. XM_054344235.1 → XP_054200210.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X3

    4. XM_054344237.1 → XP_054200212.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X5

      UniProtKB/TrEMBL
      C9JEA7

    5. XM_054344238.1 → XP_054200213.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X6

    6. XM_054344236.1 → XP_054200211.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X4

    7. XM_054344234.1 → XP_054200209.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X2

    8. XM_054344239.1 → XP_054200214.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X7

    9. XM_054344232.1 → XP_054200207.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRC7.1 GenPept UniProtKB/Swiss-Prot:Q9BRC7

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