Human Gene PLD2 (uc010vsj.2)
  Description: Homo sapiens phospholipase D2 (PLD2), transcript variant 2, mRNA.
RefSeq Summary (NM_001243108): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:4,710,396-4,721,680 Size: 11,285 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr17:4,712,441-4,721,407 Size: 8,967 Coding Exon Count: 14 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:4,710,396-4,721,680)mRNA (may differ from genome)Protein (498 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIPubMedTreefam
UniProtKBWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PLD2
CDC HuGE Published Literature: PLD2
Positive Disease Associations: colorectal cancer
Related Studies:
  1. colorectal cancer
    Yamada, Y. et al. 2003, Association of a polymorphism of the phospholipase D2 gene with the prevalence of colorectal cancer., Journal of molecular medicine (Berlin, Germany). 2003 Feb;81(2):126-31. [PubMed 12601529]
    These results suggest that the phospholipase D(2) gene is a susceptibility locus for colorectal cancer in Japanese individuals, although a functional effect of the 1814C-->T (Thr577Ile) polymorphism was not detected.
  2. Colorectal Cancer
    Yamada Y 2003, Association of a polymorphism of the phospholipase D2 gene with the prevalence of colorectal cancer., Journal of molecular medicine (Berlin, Germany). 2003 Feb;81(2):126-31. [PubMed 12601529]
    These results suggest that the phospholipase D(2) gene is a susceptibility locus for colorectal cancer in Japanese individuals, although a functional effect of the 1814C-->T (Thr577Ile) polymorphism was not detected.

-  MalaCards Disease Associations
  MalaCards Gene Search: PLD2
Diseases sorted by gene-association score: tooth agenesis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 40.87 RPKM in Esophagus - Mucosa
Total median expression: 605.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -260.46590-0.441 Picture PostScript Text
3' UTR -108.40273-0.397 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR001683 - Phox
IPR001849 - Pleckstrin_homology
IPR001736 - PLipase_D/transphosphatidylase
IPR015679 - PLipase_D_fam

Pfam Domains:
PF00614 - Phospholipase D Active site motif
PF00787 - PX domain

SCOP Domains:
50729 - PH domain-like
56024 - Phospholipase D/nuclease

ModBase Predicted Comparative 3D Structure on B7Z905
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004630 phospholipase D activity
GO:0035091 phosphatidylinositol binding

Biological Process:
GO:0006654 phosphatidic acid biosynthetic process
GO:0048017 inositol lipid-mediated signaling

Cellular Component:
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  AF033850 - Homo sapiens phospholipase D2 (PLD2) mRNA, complete cds.
BC015033 - Homo sapiens phospholipase D2, mRNA (cDNA clone MGC:9152 IMAGE:3907928), complete cds.
AF038441 - Homo sapiens phospholipase D2 (PLD2) mRNA, splice variant hPLD2b, complete cds.
AF038440 - Homo sapiens phospholipase D2 (PLD2) mRNA, splice variant hPLD2a, complete cds.
AK304246 - Homo sapiens cDNA FLJ53960 complete cds, highly similar to Phospholipase D2 (EC 3.1.4.4).
AK314797 - Homo sapiens cDNA, FLJ95669.
BC056871 - Homo sapiens phospholipase D2, mRNA (cDNA clone MGC:64872 IMAGE:5526564), complete cds.
AB209374 - Homo sapiens mRNA for phospholipase D2 variant protein.
AB463172 - Synthetic construct DNA, clone: pF1KB8432, Homo sapiens PLD2 gene for phospholipase D2, without stop codon, in Flexi system.
AM393149 - Synthetic construct Homo sapiens clone IMAGE:100002893 for hypothetical protein (PLD2 gene).
AM393150 - Synthetic construct Homo sapiens clone IMAGE:100002623 for hypothetical protein (PLD2 gene).
AM393159 - Synthetic construct Homo sapiens clone IMAGE:100002892 for hypothetical protein (PLD2 gene).
AM393603 - Synthetic construct Homo sapiens clone IMAGE:100002622 for hypothetical protein (PLD2 gene).
AF035483 - Homo sapiens phospholipase D2 (PLD2) mRNA, complete cds.
AY178289 - Homo sapiens phospholipase D2 (PLD2) mRNA, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00564 - Glycerophospholipid metabolism
hsa00565 - Ether lipid metabolism
hsa01100 - Metabolic pathways
hsa04144 - Endocytosis
hsa04666 - Fc gamma R-mediated phagocytosis
hsa04912 - GnRH signaling pathway

BioCarta from NCI Cancer Genome Anatomy Project
h_cb1rPathway - Metabolism of Anandamide, an Endogenous Cannabinoid

-  Other Names for This Gene
  Alternate Gene Symbols: AK304246, B7Z905, B7Z905_HUMAN
UCSC ID: uc010vsj.2
RefSeq Accession: NM_001243108
Protein: B7Z905

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK304246.1
exon count: 18CDS single in 3' UTR: no RNA size: 2282
ORF size: 1497CDS single in intron: no Alignment % ID: 99.87
txCdsPredict score: 2649.00frame shift in genome: no % Coverage: 99.82
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 279# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.