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PLD2 phospholipase D2 [ Homo sapiens (human) ]

Gene ID: 5338, updated on 17-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
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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

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. 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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