PLD3 (phospholipase D family member 3)

2014-11-01  

Identity

HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
AD19,HU-K4,HUK4,SCA46
FUSION GENES

Other Information

Locus ID:

NCBI: 23646
MIM: 615698
HGNC: 17158
Ensembl: ENSG00000105223

Variants:

dbSNP: 23646
ClinVar: 23646
TCGA: ENSG00000105223
COSMIC: PLD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105223ENST00000356508Q8IV08
ENSG00000105223ENST00000356508A0A024R0Q4
ENSG00000105223ENST00000359274E2QRG1
ENSG00000105223ENST00000392032A0A0A0MS28
ENSG00000105223ENST00000409281Q8IV08
ENSG00000105223ENST00000409281A0A024R0Q4
ENSG00000105223ENST00000409419Q8IV08
ENSG00000105223ENST00000409419A0A024R0Q4
ENSG00000105223ENST00000409587Q8IV08
ENSG00000105223ENST00000409587A0A024R0Q4
ENSG00000105223ENST00000409735Q8IV08
ENSG00000105223ENST00000409735A0A024R0Q4
ENSG00000105223ENST00000486134M0R3G9
ENSG00000105223ENST00000492243M0QYJ4
ENSG00000105223ENST00000594908M0R1F7
ENSG00000105223ENST00000596682M0QX50
ENSG00000105223ENST00000598962M0QZK2
ENSG00000105223ENST00000599353M0R2W7
ENSG00000105223ENST00000599685M0QY94
ENSG00000105223ENST00000600948M0R2E7
ENSG00000105223ENST00000602131M0QX99

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900

Pathways

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Ether lipid metabolismKEGGko00565
Glycerophospholipid metabolismKEGGhsa00564
Ether lipid metabolismKEGGhsa00565
Metabolic pathwaysKEGGhsa01100
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Role of phospholipids in phagocytosisREACTOMER-HSA-2029485
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PGREACTOMER-HSA-1483148

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
217528292011Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.263
243362082014Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.156
195252362009Sustained receptor stimulation leads to sequestration of recycling endosomes in a classical protein kinase C- and phospholipase D-dependent manner.18
248664022014Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China.15
180951542008Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers.9
261898332016PLD3 in Alzheimer's Disease: a Modest Effect as Revealed by Updated Association and Expression Analyses.8
264113462015Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.8
264024102015Common Variants in PLD3 and Correlation to Amyloid-Related Phenotypes in Alzheimer's Disease.6
165805652006HindIII(+/-) polymorphism of the Y chromosome, blood pressure, and serum lipids: no evidence of association in three white populations.5
293680442018Analysis of novel endosome-to-Golgi retrieval genes reveals a role for PLD3 in regulating endosomal protein sorting and amyloid precursor protein processing.5

Citation

Dessen P

PLD3 (phospholipase D family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71971/pld3