Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.D511V
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PKD2

NM_000297.4:p.D511V

Associated Papers

A heteromeric TRP channel that functions as a WNT-activated G protein-coupled receptor.

Hardy EP et al.

Nature Communications, 2026

Hyperosmotic stimuli activate polycystin proteins to aid in urine concentration.

Márquez-Nogueras KM et al.

Jci Insight, 2025

Physiologic mechanisms underlying polycystic kidney disease.

Boletta A et al.

Physiological Reviews, 2025

Cholesterol ensures ciliary polycystin-2 localization to prevent polycystic kidney disease.

Itabashi T et al.

Life Science Alliance, 2025

39900437 (PubMed )
Supplement: LSA-2024-03063_review_history.pdf

Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.

Liu X et al.

Bmc Genomics, 2023

The diverse effects of pathogenic point mutations on ion channel activity of a gain-of-function polycystin-2.

Wang Y et al.

The Journal of Biological Chemistry, 2023

Establishment of transgenic pigs overexpressing human PKD2-D511V mutant.

Zhang Y et al.

Frontiers in Genetics, 2022

Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population.

Walsh S et al.

Scientific Reports, 2020

Loss of polycystins suppresses deciliation via the activation of the centrosomal integrity pathway.

Gerakopoulos V et al.

Life Science Alliance, 2020

Polycystins as components of large multiprotein complexes of polycystin interactors.

Hardy E et al.

Cellular Signalling, 2020

Molecular dysregulation of ciliary polycystin-2 channels caused by variants in the TOP domain.

Vien TN et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Polycystin 2: A calcium channel, channel partner, and regulator of calcium homeostasis in ADPKD.

Brill AL et al.

Cellular Signalling, 2020

Structure and function of polycystins: insights into polycystic kidney disease.

Douguet D et al.

Nature Reviews. Nephrology, 2019

A mutation affecting polycystin-1 mediated heterotrimeric G-protein signaling causes PKD.

Parnell SC et al.

Human Molecular Genetics, 2018

Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels.

Zheng W et al.

Nature Communications, 2018

Structure of the polycystic kidney disease TRP channel Polycystin-2 (PC2).

Grieben M et al.

Nature Structural & Molecular Biology, 2017

Molecular insights into lipid-assisted Ca2+ regulation of the TRP channel Polycystin-2.

Wilkes M et al.

Nature Structural & Molecular Biology, 2017

The Structure of the Polycystic Kidney Disease Channel PKD2 in Lipid Nanodiscs.

Shen PS et al.

Cell, 2016

The polycystin complex mediates Wnt/Ca(2+) signalling.

Kim S et al.

Nature Cell Biology, 2016

Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant.

Arif Pavel M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016

Targeted rescue of a polycystic kidney disease mutation by lysosomal inhibition.

Hofherr A et al.

Kidney International, 2016

Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.

Gonzalez-Paredes FJ et al.

Gene, 2016

The functions of TRPP2 in the vascular system.

Du J et al.

Acta Pharmacologica Sinica, 2016

Regulation of polycystin-1 ciliary trafficking by motifs at its C-terminus and polycystin-2 but not by cleavage at the GPS site.

Su X et al.

Journal of Cell Science, 2015

Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.

Gainullin VG et al.

The Journal of Clinical Investigation, 2015

N-glycosylation determines the abundance of the transient receptor potential channel TRPP2.

Hofherr A et al.

The Journal of Biological Chemistry, 2014

Polycystin-2 induces a conformational change in polycystin-1.

Oatley P et al.

Biochemistry, 2013

Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation.

Streets AJ et al.

Human Molecular Genetics, 2013

Epidermal growth factor-mediated proliferation and sodium transport in normal and PKD epithelial cells.

Zheleznova NN et al.

Biochimica Et Biophysica Acta, 2011

Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases.

Choi YH et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

A single amino acid residue constitutes the third dimerization domain essential for the assembly and function of the tetrameric polycystin-2 (TRPP2) channel.

Feng S et al.

The Journal of Biological Chemistry, 2011

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

The cell biology of polycystic kidney disease.

Chapin HC et al.

The Journal of Cell Biology, 2010

A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes.

Giamarchi A et al.

The Embo Journal, 2010

Polycystin-1 C-terminal cleavage is modulated by polycystin-2 expression.

Bertuccio CA et al.

The Journal of Biological Chemistry, 2009

Function and regulation of TRPP2 at the plasma membrane.

Tsiokas L

American Journal of Physiology. Renal Physiology, 2009

Identification and functional characterization of an N-terminal oligomerization domain for polycystin-2.

Feng S et al.

The Journal of Biological Chemistry, 2008

Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease.

Dedoussis GV et al.

European Journal of Clinical Investigation, 2008

TRPP2 and autosomal dominant polycystic kidney disease.

Köttgen M

Biochimica Et Biophysica Acta, 2007

Cell biology of polycystin-2.

Tsiokas L et al.

Cellular Signalling, 2007

TRP channels in disease.

Jordt SE et al.

Sub-cellular Biochemistry, 2007

Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif.

Geng L et al.

Journal of Cell Science, 2006

Polycystin-2 regulates proliferation and branching morphogenesis in kidney epithelial cells.

Grimm DH et al.

The Journal of Biological Chemistry, 2006

Polycystin 2 interacts with type I inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling.

Li Y et al.

The Journal of Biological Chemistry, 2005

PKD2 functions as an epidermal growth factor-activated plasma membrane channel.

Ma R et al.

Molecular and Cellular Biology, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."