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    PLD2 phospholipase D2 [ Homo sapiens (human) ]

    Gene ID: 5338, updated on 22-Apr-2024

    Summary

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    Official Symbol
    PLD2provided by HGNC
    Official Full Name
    phospholipase D2provided by HGNC
    Primary source
    HGNC:HGNC:9068
    See related
    Ensembl:ENSG00000129219 MIM:602384; AllianceGenome:HGNC:9068
    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
    Also known as
    PLD1C
    Summary
    The protein encoded by this gene catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. The activity of the encoded enzyme is enhanced by phosphatidylinositol 4,5-bisphosphate and ADP-ribosylation factor-1. This protein localizes to the peripheral membrane and may be involved in cytoskeletal organization, cell cycle control, transcriptional regulation, and/or regulated secretion. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
    Expression
    Ubiquitous expression in esophagus (RPKM 17.0), skin (RPKM 14.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17p13.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4807152..4823430)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4697008..4713290)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4710447..4726725)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4699218-4699816 Neighboring gene chromosome 17 open reading frame 114 Neighboring gene proteasome 20S subunit beta 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8045 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4711183-4712382 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4735692-4736478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8047 Neighboring gene misshapen like kinase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4752245-4752960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4752961-4753674 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4757141-4758092 Neighboring gene Sharpr-MPRA regulatory region 481 Neighboring gene ATPase H+ transporting V0 subunit c pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11550 Neighboring gene RNA, 7SL, cytoplasmic 784, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Identification and functional analysis of a novel phospholipase D2 gene mutation associated with familial systemic lupus erythematosus. Peng L, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2021 Mar 28. PMID 33927069, Free PMC Article
    2. Prostate cancer-derived exosomes promote osteoblast differentiation and activity through phospholipase D2. Borel M, et al. Biochim Biophys Acta Mol Basis Dis, 2020 Dec 1. PMID 32800947
    3. PLD2-PI(4,5)P2 interactions in fluid phase membranes: Structural modeling and molecular dynamics simulations. Han K, et al. PLoS One, 2020. PMID 32687545, Free PMC Article
    4. Phospholipase D2 in prostate cancer: protein expression changes with Gleason score. Noble AR, et al. Br J Cancer, 2019 Dec. PMID 31673104, Free PMC Article
    5. Tumor cell-secreted PLD increases tumor stemness by senescence-mediated communication with microenvironment. Muñoz-Galván S, et al. Oncogene, 2019 Feb. PMID 30305726

    See all (175) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Essential role of PLD2 in hypoxia-induced stemness and therapy resistance in ovarian tumors.
      Title: Essential role of PLD2 in hypoxia-induced stemness and therapy resistance in ovarian tumors.
    2. Phospholipase D and cancer metastasis: A focus on exosomes.
      Title: Phospholipase D and cancer metastasis: A focus on exosomes.
    3. PLD2 deletion alleviates disruption of tight junctions in sepsis-induced ALI by regulating PA/STAT3 phosphorylation pathway.
      Title: PLD2 deletion alleviates disruption of tight junctions in sepsis-induced ALI by regulating PA/STAT3 phosphorylation pathway.
    4. Exosome Secretion and Epithelial-Mesenchymal Transition in Ovarian Cancer Are Regulated by Phospholipase D.
      Title: Exosome Secretion and Epithelial-Mesenchymal Transition in Ovarian Cancer Are Regulated by Phospholipase D.
    5. Phospholipase D2 is a positive regulator of sirtuin 1 and modulates p53-mediated apoptosis via sirtuin 1.
      Title: Phospholipase D2 is a positive regulator of sirtuin 1 and modulates p53-mediated apoptosis via sirtuin 1.
    6. Structure and regulation of human phospholipase D.
      Title: Structure and regulation of human phospholipase D.
    7. Identification and functional analysis of a novel phospholipase D2 gene mutation associated with familial systemic lupus erythematosus.", trans "PLD2.
      Title: Identification and functional analysis of a novel phospholipase D2 gene mutation associated with familial systemic lupus erythematosus.
    8. Increased phospholipase D activity contributes to tumorigenesis in prostate cancer cell models.
      Title: Increased phospholipase D activity contributes to tumorigenesis in prostate cancer cell models.
    9. Prostate cancer-derived exosomes promote osteoblast differentiation and activity through phospholipase D2.
      Title: Prostate cancer-derived exosomes promote osteoblast differentiation and activity through phospholipase D2.
    10. High Expression of PhospholipaseD2 Induced by Hypoxia Promotes Proliferation of Colon Cancer Cells through Activating NF- kappa Bp65 Signaling Pathway.
      Title: High Expression of PhospholipaseD2 Induced by Hypoxia Promotes Proliferation of Colon Cancer Cells through Activating NF- κ Bp65 Signaling Pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (116)

    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
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    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 gp120-induced phosphatidylcholine-specific phospholipase D (PLD) activity is dependent on the activation of ERK1/2 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acylphosphatidylethanolamine-specific phospholipase D activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phospholipase D activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipase D activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Fc-gamma receptor signaling pathway involved in phagocytosis TAS
    Traceable Author Statement
    more info
    		  
    involved_in cytoskeleton organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in phosphatidic acid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in phospholipid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in small GTPase-mediated signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in synaptic vesicle recycling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phospholipase D2
    Names
    choline phosphatase 2
    phosphatidylcholine-hydrolyzing phospholipase D2
    NP_001230037.1
    NP_002654.3
    XP_047292256.1
    XP_047292257.1
    XP_047292258.1
    XP_054172483.1
    XP_054172484.1
    XP_054172485.1

    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.

    Genomic

    1. NG_029608.1 RefSeqGene

      Range
      5052..21330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243108.2 → NP_001230037.1  phospholipase D2 isoform PLD2B

      See identical proteins and their annotated locations for NP_001230037.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (PLD2B) has the same N- and C-termini but is shorter compared to isoform PLD2A.
      Source sequence(s)
      AF033850, AF038440, AF038441, BC015033, DC407587
      Consensus CDS
      CCDS58507.1
      UniProtKB/Swiss-Prot
      O14939
      Related
      ENSP00000459571.1, ENST00000572940.5
      Conserved Domains (5) summary
      cd09845
      Location:614 → 795
      PLDc_vPLD2_2; Catalytic domain, repeat 2, of vertebrate phospholipase D2
      PLN02866
      Location:66 → 907
      PLN02866; phospholipase D
      cd01254
      Location:180 → 309
      PH_PLD; Phospholipase D pleckstrin homology (PH) domain
      cl02563
      Location:62 → 192
      PX_domain; The Phox Homology domain, a phosphoinositide binding module
      cl15239
      Location:335 → 475
      PLDc_SF; Catalytic domain of phospholipase D superfamily proteins

    2. NM_002663.5 → NP_002654.3  phospholipase D2 isoform PLD2A

      See identical proteins and their annotated locations for NP_002654.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (PLD2A).
      Source sequence(s)
      AF033850, AF038440, BC015033, DC407587
      Consensus CDS
      CCDS11057.1
      UniProtKB/Swiss-Prot
      I3L2C9, O14939, O43540, O43579, O43580, Q6PGR0, Q96BY3
      Related
      ENSP00000263088.5, ENST00000263088.11
      Conserved Domains (5) summary
      cd09845
      Location:614 → 795
      PLDc_vPLD2_2; Catalytic domain, repeat 2, of vertebrate phospholipase D2
      PLN02866
      Location:66 → 918
      PLN02866; phospholipase D
      cd01254
      Location:180 → 309
      PH_PLD; Phospholipase D pleckstrin homology (PH) domain
      cl02563
      Location:62 → 192
      PX_domain; The Phox Homology domain, a phosphoinositide binding module
      cl15239
      Location:335 → 475
      PLDc_SF; Catalytic domain of phospholipase D superfamily proteins

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4807152..4823430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436301.1 → XP_047292257.1  phospholipase D2 isoform X2

    2. XM_047436302.1 → XP_047292258.1  phospholipase D2 isoform X3

    3. XM_047436300.1 → XP_047292256.1  phospholipase D2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4697008..4713290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316509.1 → XP_054172484.1  phospholipase D2 isoform X2

    2. XM_054316510.1 → XP_054172485.1  phospholipase D2 isoform X3

    3. XM_054316508.1 → XP_054172483.1  phospholipase D2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14939.2 GenPept UniProtKB/Swiss-Prot:O14939

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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