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Pkd2 - polycystin 2, transient receptor potential cation channel Gene

Also Known as PC2; TRPP2; C030034P18Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 18764

About Pkd2

Chromosome 5: 104,607,316-104,653,685 forward strand.GRCm39:CM000998.3

This gene has 3 transcripts (splice variants), 222 orthologues, 10 paralogues and is associated with 63 phenotypes. Ubiquitous expression in limb E14.5 (RPKM 13.), bladder adult (RPKM 11.6) and 27 other tissues.

Summary

Enables several functions, including ATPase binding activity; cation channel activity; and identical protein binding activity. Involved in several processes, including detection of nodal flow; inorganic cation transmembrane transport; and placenta development. Acts upstream of or within several processes, including animal organ development; negative regulation of ryanodine-sensitive calcium-release channel activity; and receptor signaling pathway via JAK-STAT. Located in several cellular components, including basal cortex; ciliary membrane; and microtubule Cytoskeleton. Part of polycystin complex. Colocalizes with cell-cell junction. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; early conceptus; and genitourinary system. Used to study autosomal dominant polycystic kidney disease and polycystic kidney disease 2. 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). [provided by Alliance of Genome Resources, Apr 2022]

Pkd2 Products (1)

mRNA	Protein	Name
NM_008861.3	NP_032887.3	polycystin-2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	18178578	MGI
enables calcium channel activity	IDA IDA: Inferred from direct assay	12640140	MGI
enables calcium channel activity	IMP IMP: Inferred from mutant phenotype	27760766	MGI
enables calcium ion binding	IDA IDA: Inferred from direct assay	20408813	MGI
enables channel activity	IMP IMP: Inferred from mutant phenotype	18235088	MGI
enables identical protein binding	IPI IPI: Inferred from physical interaction	20408813	MGI
enables outward rectifier potassium channel activity	IMP IMP: Inferred from mutant phenotype	27760766	MGI
enables potassium channel activity	IDA IDA: Inferred from direct assay	12640140	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	10913159	MGI
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	17404231	MGI

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	27760766	MGI
involved in calcium ion transport	IDA IDA: Inferred from direct assay	12514735	MGI
acts upstream of or within calcium ion transport	IMP IMP: Inferred from mutant phenotype	12514735	MGI
involved in cell surface receptor signaling pathway via JAK-STAT	EXP EXP: Inferred from Experiment	12007403	MGI
acts upstream of or within cell surface receptor signaling pathway via JAK-STAT	IDA IDA: Inferred from direct assay	12007403	MGI
involved in cellular response to calcium ion	IMP IMP: Inferred from mutant phenotype	27760766	MGI
involved in cellular response to fluid shear stress	IMP IMP: Inferred from mutant phenotype	19265036	MGI
acts upstream of or within detection of mechanical stimulus	IMP IMP: Inferred from mutant phenotype	12514735	MGI
involved in detection of nodal flow	IMP IMP: Inferred from mutant phenotype	21307093	MGI
acts upstream of or within determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	12062060	MGI
acts upstream of or within embryonic placenta development	IMP IMP: Inferred from mutant phenotype	16301212	MGI
involved in embryonic placenta development	IMP IMP: Inferred from mutant phenotype	20862291	MGI
acts upstream of or within establishment of localization in cell	IMP IMP: Inferred from mutant phenotype	12514735	MGI
acts upstream of or within heart development	IMP IMP: Inferred from mutant phenotype	10615132	MGI
acts upstream of or within intracellular calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	12874107	MGI
acts upstream of or within kidney development	IGI IGI: Inferred from genetic interaction	21685914	MGI
acts upstream of or within kidney development	IMP IMP: Inferred from mutant phenotype	10615132	MGI
acts upstream of or within liver development	IGI IGI: Inferred from genetic interaction	21685914	MGI
acts upstream of or within negative regulation of ryanodine-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	17404231	MGI
involved in placenta blood vessel development	IMP IMP: Inferred from mutant phenotype	20862291	MGI
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	20181743	MGI
involved in positive regulation of nitric oxide biosynthetic process	IMP IMP: Inferred from mutant phenotype	19265036	MGI
involved in potassium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	27760766	MGI
acts upstream of or within regulation of cell cycle	IDA IDA: Inferred from direct assay	12007403	MGI
acts upstream of or within release of sequestered calcium ion into cytosol	IMP IMP: Inferred from mutant phenotype	17404231	MGI
involved in release of sequestered calcium ion into cytosol	IMP IMP: Inferred from mutant phenotype	19265036	MGI
involved in renal tubule morphogenesis	IMP IMP: Inferred from mutant phenotype	20181743	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	25405894	MGI
located in basal cortex	IDA IDA: Inferred from direct assay	10770959	MGI
colocalizes with cell-cell junction	IDA IDA: Inferred from direct assay	15843396	MGI
located in ciliary basal body	IDA IDA: Inferred from direct assay	22031837	MGI
located in ciliary membrane	IMP IMP: Inferred from mutant phenotype	27760766	MGI
located in cilium	IDA IDA: Inferred from direct assay	12514735	MGI
located in cilium	IMP IMP: Inferred from mutant phenotype	21307093	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	10770959	MGI
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	16192288	MGI
located in endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	12640140	MGI
located in mitotic spindle	IDA IDA: Inferred from direct assay	15123714	MGI
located in motile cilium	IDA IDA: Inferred from direct assay	15858826	MGI
located in non-motile cilium	IDA IDA: Inferred from direct assay	12062067	MGI
located in plasma membrane	IDA IDA: Inferred from direct assay	12640140	MGI
part of polycystin complex	IDA IDA: Inferred from direct assay	11901144	MGI
part of polycystin complex	IPI IPI: Inferred from physical interaction	11901144	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Pkd2 Protein Structure

PKD_channel

EFh_HEF

Fer4_24

0
200
400
600
800
966 a.a.

Protein Preferred Names	Protein Names
polycystin-2	polycystic kidney disease 2 protein homolog transient receptor potential cation channel subfamily P member 2

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-15698	CRT0066101	Inhibitor	99.88%	Phase 1

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13687	IKK 16	Inhibitor	99.88%	Unkown
HY-15698A	CRT0066101 dihydrochloride	Inhibitor	99.97%	Unkown
HY-13941	1-Naphthyl PP1	Inhibitor	99.36%	Unkown
HY-13687A	IKK 16 hydrochloride	Inhibitor	99.95%	Unkown
HY-12239	CID755673	Inhibitor	99.13%	Unkown
HY-118052	BPKDi	Inhibitor	99.74%	Unkown
HY-13454	CID 2011756	Inhibitor	96.98%	Unkown
HY-15528	kb NB 142-70	Inhibitor	98.02%	Unkown
HY-151374	3-IN-PP1	Inhibitor	99.37%	Unkown
HY-15698B	CRT0066101 trihydrochloride	Inhibitor	/	Unkown
HY-151372	Protein kinase D inhibitor 1	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Pkd2	NCBI	NCBI:5311