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

Gene ID: 84812, updated on 11-Apr-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
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Genomic context

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Location:
2q35
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218607899..218637175)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219094436..219123729)
105.20220307 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
  • 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. Identification and analysis of the promoter region of the human PLC-delta4 gene. Chae SW, et al. Mol Biol Rep, 2007 Jun. PMID 17394098
  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. 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

See all (33) 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 calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
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 lipid catabolic process IEA
Inferred from Electronic Annotation
more info
  
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_2023_10

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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