Gene

pkd2

ID

ZDB-GENE-040827-4

Name

polycystic kidney disease 2

Symbol

pkd2 Nomenclature History

Previous Names

cup (1)
curly up (1)
polycystin-2 (1)
TRPP2 (1)

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Predicted to enable several functions, including calcium ion binding activity; monoatomic cation channel activity; and muscle alpha-actinin binding activity. Involved in heart development and positive regulation of sequestering of calcium ion. Acts upstream of or within with a positive effect on cilium assembly. Acts upstream of or within several processes, including Kupffer's vesicle development; circulatory system development; and kidney development. Located in basolateral plasma membrane; cilium; and endoplasmic reticulum. Is expressed in several structures, including germ ring; heart; nervous system; pleuroperitoneal region; and tail bud. Used to study autosomal dominant polycystic kidney disease; ciliopathy; and polycystic kidney disease. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; polycystic kidney disease; polycystic kidney disease 2; and retinal degeneration. Orthologous to human PKD2 (polycystin 2, transient receptor potential cation channel).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

27 figures from 13 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 104 figures from 48 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pkd2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
polycystic kidney disease 2	Alliance	Polycystic kidney disease 2	613095

Associated With pkd2 Via Experimental Models

Human Disease	Fish	Conditions	Citations
autosomal dominant polycystic kidney disease	WT + MO3-pkd2	standard conditions	(4)
autosomal dominant polycystic kidney disease	AB/TU + MO7-pkd2	control	Le Corre et al., 2014
autosomal dominant polycystic kidney disease	pkd2^tc321/tc321	control	Le Corre et al., 2014
autosomal dominant polycystic kidney disease	pkd2^{hu2173/hu2173}	control	Metzner et al., 2020
autosomal dominant polycystic kidney disease	WT + MO3-pkd2 + MO9-pkd2	standard conditions	Roxo-Rosa et al., 2015
polycystic kidney disease	AB/TU + MO3-pkd2	standard conditions	Cao et al., 2009
polycystic kidney disease	pkd2^{hi4166Tg/hi4166Tg} (AB/TU)	standard conditions	Cao et al., 2009
polycystic kidney disease	TL + MO3-pkd2	standard conditions	Verschuren et al., 2020
ciliopathy	AB + MO3-pkd2	standard conditions	Pala et al., 2019

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR002048	EF-hand domain
Domain	IPR013122	Polycystin cation channel, PKD1/PKD2
Domain	IPR046791	Polycystin domain
Family	IPR003915	Polycystic kidney disease type 2 protein
Family	IPR051223	Polycystin
Homologous_superfamily	IPR011992	EF-hand domain pair