Identity
HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
AD19,HU-K4,HUK4,SCA46
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23646
MIM: 615698
HGNC: 17158
Ensembl: ENSG00000105223
Variants:
dbSNP: 23646
ClinVar: 23646
TCGA: ENSG00000105223
COSMIC: PLD3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37994783 | 2024 | Structural analysis of PLD3 reveals insights into the mechanism of lysosomal 5' exonuclease-mediated nucleic acid degradation. | 1 |
| 37994783 | 2024 | Structural analysis of PLD3 reveals insights into the mechanism of lysosomal 5' exonuclease-mediated nucleic acid degradation. | 1 |
| 33830999 | 2021 | PLD3 is a neuronal lysosomal phospholipase D associated with β-amyloid plaques and cognitive function in Alzheimer's disease. | 20 |
| 33830999 | 2021 | PLD3 is a neuronal lysosomal phospholipase D associated with β-amyloid plaques and cognitive function in Alzheimer's disease. | 20 |
| 31121321 | 2019 | V232M substitution restricts a distinct O-glycosylation of PLD3 and its neuroprotective function. | 8 |
| 31121321 | 2019 | V232M substitution restricts a distinct O-glycosylation of PLD3 and its neuroprotective function. | 8 |
| 29368044 | 2018 | Analysis of novel endosome-to-Golgi retrieval genes reveals a role for PLD3 in regulating endosomal protein sorting and amyloid precursor protein processing. | 12 |
| 29865074 | 2018 | Rare Variants in PLD3 Increase Risk for Alzheimer's Disease in Han Chinese. | 10 |
| 30103332 | 2018 | Common Variant in PLD3 Influencing Cerebrospinal Fluid Total Tau Levels and Hippocampal Volumes in Mild Cognitive Impairment Patients from the ADNI Cohort. | 4 |
| 30208929 | 2018 | PLD3 epigenetic changes in the hippocampus of Alzheimer's disease. | 11 |
| 29368044 | 2018 | Analysis of novel endosome-to-Golgi retrieval genes reveals a role for PLD3 in regulating endosomal protein sorting and amyloid precursor protein processing. | 12 |
| 29865074 | 2018 | Rare Variants in PLD3 Increase Risk for Alzheimer's Disease in Han Chinese. | 10 |
| 30103332 | 2018 | Common Variant in PLD3 Influencing Cerebrospinal Fluid Total Tau Levels and Hippocampal Volumes in Mild Cognitive Impairment Patients from the ADNI Cohort. | 4 |
| 30208929 | 2018 | PLD3 epigenetic changes in the hippocampus of Alzheimer's disease. | 11 |
| 26189833 | 2016 | PLD3 in Alzheimer's Disease: a Modest Effect as Revealed by Updated Association and Expression Analyses. | 15 |
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-(phospholipase-d-family-member-3)
