PLD2 Gene (Protein Coding)

Phospholipase D2

GC17P004808
GIFtS:
48
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... See more...

Aliases for PLD2 Gene

Aliases for PLD2 Gene

  • Phospholipase D2 2 3 4 5
  • Choline Phosphatase 2 2 3 4
  • Phosphatidylcholine-Hydrolyzing Phospholipase D2 3 4
  • EC 3.1.4.4 4 50
  • PLD1C 3 4
  • PLD 2 4
  • HPLD2 4
  • PLD2 5

External Ids for PLD2 Gene

Previous GeneCards Identifiers for PLD2 Gene

  • GC17P005137
  • GC17P004661
  • GC17P004917
  • GC17P004657
  • GC17P004710
  • GC17P004598

Summaries for PLD2 Gene

Entrez Gene Summary for PLD2 Gene

  • 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]

GeneCards Summary for PLD2 Gene

PLD2 (Phospholipase D2) is a Protein Coding gene. Diseases associated with PLD2 include Tooth Agenesis and Pheochromocytoma. Among its related pathways are Alpha-synuclein signaling and G-AlphaQ Signaling. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding and N-acylphosphatidylethanolamine-specific phospholipase D activity. An important paralog of this gene is PLD1.

UniProtKB/Swiss-Prot Summary for PLD2 Gene

  • Function as phospholipase selective for phosphatidylcholine (PubMed:9582313). May have a role in signal-induced cytoskeletal regulation and/or endocytosis (By similarity).

Tocris Summary for PLD2 Gene

  • Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.

Gene Wiki entry for PLD2 Gene

Additional gene information for PLD2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLD2 Gene

Genomics for PLD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PLD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLD2

Top Transcription factor binding sites by QIAGEN in the PLD2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • E47
  • Hand1
  • Lmo2
  • Sp1
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for PLD2 Gene

Latest Assembly
chr17:4,807,152-4,823,434
(GRCh38/hg38)
Size:
16,283 bases
Orientation:
Plus strand

Previous Assembly
chr17:4,710,447-4,726,725
(GRCh37/hg19 by Entrez Gene)
Size:
16,279 bases
Orientation:
Plus strand

chr17:4,710,391-4,726,729
(GRCh37/hg19 by Ensembl)
Size:
16,339 bases
Orientation:
Plus strand

Genomic View for PLD2 Gene

Genes around PLD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLD2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PLD2 Gene

Proteins for PLD2 Gene

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  • Protein details for PLD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14939-PLD2_HUMAN
    Recommended name:
    Phospholipase D2
    Protein Accession:
    O14939
    Secondary Accessions:
    • I3L2C9
    • O43540
    • O43579
    • O43580
    • Q6PGR0
    • Q96BY3

    Protein attributes for PLD2 Gene

    Size:
    933 amino acids
    Molecular mass:
    105987 Da
    Quaternary structure:
    • Interacts with PIP5K1B (PubMed:11032811). Interacts with EGFR (By similarity).

    Three dimensional structures from OCA and Proteopedia for PLD2 Gene

    Alternative splice isoforms for PLD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLD2 Gene

Protein Expression for PLD2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PLD2 Gene

O14939:
  • IGSANIN
  • EYQAGRFA
  • INSGYSK
  • KEVELAL
  • YIENQFF
  • ARHFIQRWNFTK
  • LGKRDSE
  • EEIFITDWWLSPE
  • DFIDRET
  • KDWVQLD
  • LPGFEGDISTGGGN
  • DLAYGRWDD
  • VKDSFLLYM
  • LHPNIKVMRHPD
  • ASKQKYLENYLNRLLTMSFYRNYHAMTEFLEVSQLSFIPD
  • EGEDPADRMHP
  • AQVVGTERYTSGSKVGTCTLYSVRLTHGDF
  • LWAHHEKL
  • HPLVFAPGVPV
  • CYRWSKRWL

Post-translational modifications for PLD2 Gene

Other Protein References for PLD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PLD2 Gene

Gene Families for PLD2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PLD2 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • Phox-like
  • Phospholipase D/Transphosphatidylase

Suggested Antigen Peptide Sequences for PLD2 Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylcholine-hydrolyzing phospholipase D2 (PLD2_HUMAN)
  • Phospholipase D2 (Q86YQ7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14939

UniProtKB/Swiss-Prot:

PLD2_HUMAN :
  • Belongs to the phospholipase D family.
Family:
  • Belongs to the phospholipase D family.
genes like me logo Genes that share domains with PLD2: view

Function for PLD2 Gene

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  6. Cell Lines for research

Molecular function for PLD2 Gene

UniProtKB/Swiss-Prot Function:
Function as phospholipase selective for phosphatidylcholine (PubMed:9582313). May have a role in signal-induced cytoskeletal regulation and/or endocytosis (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 1,2-diacyl-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:14445, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57643, ChEBI:CHEBI:58608; EC=3.1.4.4; Evidence={ECO:0000269|PubMed:9582313};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-dihexadecanoyl-sn-glycero-3-phosphocholine + H2O = 1,2-dihexadecanoyl-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:44872, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:72859, ChEBI:CHEBI:72999; Evidence={ECO:0000269|PubMed:9582313};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Stimulated by phosphatidylinositol 4,5-bisphosphate and slightly activated by the ADP-ribosylation factor-1 (ARF-1).
GENATLAS Biochemistry:
phospholipase D2,106kDa,phosphatidylcholine specific,widely expressed,involved in metabolic regulation,cardiac and brain function,senescence regulated secretion,mitogenesis and cytoskeletal changes

Enzyme Numbers (IUBMB) for PLD2 Gene

Phenotypes From GWAS Catalog for PLD2 Gene

Gene Ontology (GO) - Molecular Function for PLD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004630 phospholipase D activity IEA --
GO:0005515 protein binding IPI 16407827
GO:0016787 hydrolase activity IEA --
GO:0035091 phosphatidylinositol binding IEA --
genes like me logo Genes that share ontologies with PLD2: view
genes like me logo Genes that share phenotypes with PLD2: view

Animal Models for PLD2 Gene

MGI Knock Outs for PLD2:
  • Pld2 Pld2<tm1(KOMP)Vlcg>
  • Pld2 Pld2<tm1Yaka>
  • Pld2 Pld2<tm1.1Gdp>
  • Pld2 Pld2<tm1.1Mjow>

Animal Models for research

miRNA for PLD2 Gene

miRTarBase miRNAs that target PLD2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLD2

Clone products for research

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLD2 Gene

Localization for PLD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLD2 Gene

Cell membrane. Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLD2 gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 4
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PLD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0098793 presynapse IEA --
genes like me logo Genes that share ontologies with PLD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLD2 Gene

Pathways & Interactions for PLD2 Gene

genes like me logo Genes that share pathways with PLD2: view

Pathways by source for PLD2 Gene

1 GeneGo (Thomson Reuters) pathway for PLD2 Gene
  • Translation Translation regulation by Alpha-1 adrenergic receptors
8 Qiagen pathways for PLD2 Gene
  • Antioxidant Action of Vitamin-C
  • Endothelin-1 Signaling Pathway
  • FGF Pathway
  • G-AlphaQ Signaling
  • mTOR Pathway
1 Cell Signaling Technology pathway for PLD2 Gene

SIGNOR curated interactions for PLD2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PLD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006654 phosphatidic acid biosynthetic process TAS --
GO:0007010 cytoskeleton organization TAS 9395408
GO:0007264 small GTPase mediated signal transduction TAS 9582313
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with PLD2: view

Drugs & Compounds for PLD2 Gene

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(27) Drugs for PLD2 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
oleic acid Approved, Investigational, Vet_approved Pharma Activator, Activation 0
Choline Approved Nutra Target, product of 240
Choline salicylate Approved Nutra Target, product of 0
Water Approved Pharma 0
Zinc Approved, Investigational Pharma 1706

(52) Additional Compounds for PLD2 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Beta-Cortolone
  • 1-Palmityl-2-palmitoleoyl-sn-glycero-3-phosphocholine
  • Gpcho(16:0/16:1)
  • Gpcho(16:0/16:1n7)
  • Gpcho(16:0/16:1W7)
  • Gpcho(32:1)
CE(22:0)
  • 1-Tetradecanoyl-2-octadecanoyl-sn-glycero-3-phosphocholine
  • GPCho(14:0/18:0)
  • Phosphatidylcholine(14:0/18:0)
  • 1-Myristoyl-2-stearoylphosphatidylcholine
  • 1m-2S-PC
 61510-09-6
Hydroxyclomipramine
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z-icosatetraenoyl)-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-(1-Enyl-stearoyl)-2-arachidonoyl-sn-glycero-3-phosphoethanolamine
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine
  • 1-Alkenyl-2-acyl-glycerophosphoethanolamine
 97859-69-3
LysoPA(0:0/16:0)
  • 2-Palmitoyl-glycero-3-phosphate
  • LPA(0:0/16:0)
  • Lysophosphatidic acid(0:0/16:0)
  • LPA(16:0)
  • 2-Hexadecanoyl-phosphatidic acid
LysoPA(0:0/18:0)
  • LPA(0:0/18:0)
  • LPA(18:0)
  • Lysophosphatidic acid(0:0/18:0)
  • Lysophosphatidic acid(18:0)
  • 2-Stearoyl-glycero-3-phosphate

(5) Tocris Compounds for PLD2 Gene

Compound Action Cas Number
AACOCF3 Phospholipase A2 inhibitor 149301-79-1
Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist 77286-66-9
m-3M3FBS Phospholipase C activator 200933-14-8
o-3M3FBS Inactive analog of m-3M3FBS (Cat. No. 1941) 313981-55-4
U 73122 Phospholipase C inhibitor 112648-68-7
genes like me logo Genes that share compounds with PLD2: view

Transcripts for PLD2 Gene

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mRNA/cDNA for PLD2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLD2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for PLD2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18 ^ 19a ·
SP1: - - - -
SP2: - - - -
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b · 23c ^ 24 ^ 25a · 25b
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for PLD2 Gene

GeneLoc Exon Structure for
PLD2

Expression for PLD2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLD2 Gene

mRNA expression in normal human tissues for PLD2 Gene
mRNA expression by BioGPS for PLD2 GenemRNA expression by GTEx for PLD2 Gene

mRNA differential expression in normal tissues according to GTEx for PLD2 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.3).

Protein differential expression in normal tissues from HIPED for PLD2 Gene

This gene is overexpressed in Platelet (25.7), Cervix (19.1), and Liver, secretome (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLD2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLD2

SOURCE GeneReport for Unigene cluster for PLD2 Gene:

Hs.104519

mRNA Expression by UniProt/SwissProt for PLD2 Gene:

O14939-PLD2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PLD2 Gene

  • Nervous system(4.8)
  • Skin(4.5)
  • Intestine(2.2)
  • Adrenal gland(2.2)
  • Blood(2.2)
  • Kidney(2.2)
  • Lung(2.2)
  • Muscle(2.2)
  • Liver(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with PLD2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLD2 Gene

Orthologs for PLD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PLD2 29 30
  • 98.71 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PLD2 29 30
  • 90.35 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pld2 29
  • 87.5 (n)
Mouse
(Mus musculus)
 Mammalia Pld2 29 16 30
  • 87.17 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PLD2 29 30
  • 84.82 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PLD2 30
  • 76 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PLD2 30
  • 71 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 49 (a)
 ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pld2 29
  • 64 (n)
Zebrafish
(Danio rerio)
 Actinopterygii pld2 29 30
  • 61.35 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Pld 30 31
  • 31 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea pld-1 30 31
  • 28 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SPO14 30 32
  • 18 (a)
 OneToMany
Barley
(Hordeum vulgare)
 Liliopsida Hv.2078 29
Corn
(Zea mays)
 Liliopsida Zm.50 29
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 34 (a)
 OneToMany
Species where no ortholog for PLD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PLD2 Gene

ENSEMBL:
Gene Tree for PLD2 (if available)
TreeFam:
Gene Tree for PLD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLD2: view image
Alliance of Genome Resources:
Additional Orthologs for PLD2

Paralogs for PLD2 Gene

Paralogs for PLD2 Gene

(1) SIMAP similar genes for PLD2 Gene using alignment to 8 proteins:

  • PLD2_HUMAN
  • I3L1F3_HUMAN
  • I3L222_HUMAN
  • I3L2C9_HUMAN
  • I3L381_HUMAN
  • I3L3I7_HUMAN
  • I3L4R5_HUMAN
  • Q86YQ7_HUMAN
genes like me logo Genes that share paralogs with PLD2: view

Variants for PLD2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLD2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs114652175 Benign: not provided 4,822,642(+) C/T
NM_002663.5(PLD2):c.2580C>T (p.Ile860=) 		SYNONYMOUS
rs115426183 Likely Benign: not provided 4,816,632(+) C/T
NM_002663.5(PLD2):c.1468C>T (p.Arg490Cys) 		MISSENSE
rs137971062 Likely Benign: not provided 4,817,149(+) A/G
NM_002663.5(PLD2):c.1705A>G (p.Thr569Ala) 		MISSENSE
rs139166795 Benign: not provided 4,810,001(+) C/T
NM_002663.5(PLD2):c.832C>T (p.His278Tyr) 		MISSENSE
rs141994397 Benign: not provided 4,817,140(+) C/T
NM_002663.5(PLD2):c.1702-6C>T 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PLD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PLD2 Gene

Variant ID Type Subtype PubMed ID
esv3639795 CNV loss 21293372
nsv574273 CNV gain 21841781
nsv820043 CNV loss 19587683
nsv833346 CNV loss 17160897
nsv833347 CNV loss 17160897

Variation tolerance for PLD2 Gene

Residual Variation Intolerance Score: 81.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.96; 95.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLD2 Gene

Human Gene Mutation Database (HGMD)
PLD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLD2
Leiden Open Variation Database (LOVD)
PLD2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLD2 Gene

Disorders for PLD2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PLD2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
tooth agenesis
  • familial tooth agenesis
pheochromocytoma
  • pheochromocytoma, susceptibility to
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search PLD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PLD2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PLD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLD2 Gene

Publications for PLD2 Gene

  1. Cloning and initial characterization of a human phospholipase D2 (hPLD2). ADP-ribosylation factor regulates hPLD2. (PMID: 9582313) Lopez I … Lambeth JD (The Journal of biological chemistry 1998) 2 3 4 22
  2. Interaction of the type Ialpha PIPkinase with phospholipase D: a role for the local generation of phosphatidylinositol 4, 5-bisphosphate in the regulation of PLD2 activity. (PMID: 11032811) Divecha N … D'Santos C (The EMBO journal 2000) 3 4 22
  3. Characterization of human PLD2 and the analysis of PLD isoform splice variants. (PMID: 9761774) Steed PM … Lasala DJ (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1998) 3 4 22
  4. Platelet derived growth factor increases phospholipase D1 but not phospholipase D2 expression via NFkappaB signaling pathway and enhances invasion of breast cancer cells. (PMID: 20188462) Kang DW … Min do S (Cancer letters 2010) 3 22
  5. A comprehensive model that explains the regulation of phospholipase D2 activity by phosphorylation-dephosphorylation. (PMID: 20176813) Henkels KM … Gomez-Cambronero J (Molecular and cellular biology 2010) 3 22

ExternalLinks

View latest publications for PLD2 gene in Mastermind

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