Pkd2 polycystin 2, transient receptor potential cation channel [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pkd2provided by MGI
Official Full Name: polycystin 2, transient receptor potential cation channelprovided by MGI
Primary source: MGI:MGI:1099818
See related: Ensembl:ENSMUSG00000034462 AllianceGenome:MGI:1099818
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PC2; TRPP2; C030034P18Rik
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]
Expression: Ubiquitous expression in limb E14.5 (RPKM 13.0), bladder adult (RPKM 11.6) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 E5; 5 50.68 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (104599379..104653685)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (104453982..104505819)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PKD1 and PKD2 mRNA cis-inhibition drives polycystic kidney disease progression.
Title: PKD1 and PKD2 mRNA cis-inhibition drives polycystic kidney disease progression.
Channel Function of Polycystin-2 in the Endoplasmic Reticulum Protects against Autosomal Dominant Polycystic Kidney Disease.
Title: Channel Function of Polycystin-2 in the Endoplasmic Reticulum Protects against Autosomal Dominant Polycystic Kidney Disease.
Polycystin-2 (PC2) is a key determinant of in vitro myogenesis.
Title: Polycystin-2 (PC2) is a key determinant of in vitro myogenesis.
A plasma membrane-localized polycystin-1/polycystin-2 complex in endothelial cells elicits vasodilation.
Title: A plasma membrane-localized polycystin-1/polycystin-2 complex in endothelial cells elicits vasodilation.
A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts.
Title: A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts.
Conserved role of ATP synthase in mammalian cilia.
Title: Conserved role of ATP synthase in mammalian cilia.
TRPP2 and STIM1 form a microdomain to regulate store-operated Ca(2+) entry and blood vessel tone.
Title: TRPP2 and STIM1 form a microdomain to regulate store-operated Ca(2+) entry and blood vessel tone.
Loss of polycystins suppresses deciliation via the activation of the centrosomal integrity pathway.
Title: Loss of polycystins suppresses deciliation via the activation of the centrosomal integrity pathway.
Intravascular flow stimulates PKD2 (polycystin-2) channels in endothelial cells to reduce blood pressure.
Title: Intravascular flow stimulates PKD2 (polycystin-2) channels in endothelial cells to reduce blood pressure.
Deletion of cardiac polycystin 2/PC2 results in increased SR calcium release and blunted adrenergic reserve.
Title: Deletion of cardiac polycystin 2/PC2 results in increased SR calcium release and blunted adrenergic reserve.

Submit: New GeneRIF Correction See all GeneRIFs (91)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (11) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pkd2 (e-PCR), detects polymorphism
- UniSTS:531222

Pkd2 (e-PCR), detects polymorphism
- UniSTS:531223

Pkd2 (e-PCR), detects polymorphism
- UniSTS:144202

Pkd2 (e-PCR), detects polymorphism
- UniSTS:144203

RH141583 (e-PCR)
- UniSTS:223577

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Pkd2 (e-PCR), detects polymorphism
- UniSTS:526958

AF014010 (e-PCR)
- UniSTS:159408

Homology

Homologs of the Pkd2 gene: The Pkd2 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, C.elegans, and frog.
Orthologs from Annotation Pipeline: 488 organisms have orthologs with human gene Pkd2
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables HLH domain binding	ISO Inferred from Sequence Orthology more info
enables actinin binding	ISO Inferred from Sequence Orthology more info
enables alpha-actinin binding	ISO Inferred from Sequence Orthology more info
enables calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to calcium channel activity	ISO Inferred from Sequence Orthology more info
enables calcium channel activity	TAS Traceable Author Statement more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium-induced calcium release activity	ISO Inferred from Sequence Orthology more info
enables channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cytoskeletal protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monoatomic cation channel activity	ISO Inferred from Sequence Orthology more info
enables muscle alpha-actinin binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables muscle alpha-actinin binding	ISO Inferred from Sequence Orthology more info
enables outward rectifier potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphoprotein binding	ISO Inferred from Sequence Orthology more info
enables potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium channel activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated monoatomic cation channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated monoatomic ion channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated potassium channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated sodium channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables voltage-gated sodium channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in cell-cell signaling by wnt	ISO Inferred from Sequence Orthology more info
involved_in cellular response to cAMP	ISO Inferred from Sequence Orthology more info
involved_in cellular response to calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to fluid shear stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to fluid shear stress	ISO Inferred from Sequence Orthology more info
involved_in cellular response to hydrostatic pressure	ISO Inferred from Sequence Orthology more info
involved_in cellular response to osmotic stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cilium organization	ISO Inferred from Sequence Orthology more info	PubMed
involved_in cytoplasmic sequestering of transcription factor	ISO Inferred from Sequence Orthology more info
involved_in detection of mechanical stimulus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within detection of mechanical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of nodal flow	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in determination of liver left/right asymmetry	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart looping	ISO Inferred from Sequence Orthology more info
involved_in inorganic cation transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intracellular calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within liver development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in placenta blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cyclin-dependent protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of nitric oxide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of nitric oxide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in potassium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in protein heterotetramerization	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in protein tetramerization	ISO Inferred from Sequence Orthology more info
involved_in receptor signaling pathway via JAK-STAT	EXP Inferred from Experiment more info	PubMed
acts_upstream_of_or_within receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of calcium ion import	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in release of sequestered calcium ion into cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of sequestered calcium ion into cytosol	ISO Inferred from Sequence Orthology more info
involved_in renal tubule morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in basal cortex	IDA Inferred from Direct Assay more info	PubMed
located_in basal cortex	ISO Inferred from Sequence Orthology more info
located_in basal plasma membrane	ISO Inferred from Sequence Orthology more info
part_of cation channel complex	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
colocalizes_with cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in ciliary membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cilium	ISO Inferred from Sequence Orthology more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info	PubMed
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in lamellipodium	ISO Inferred from Sequence Orthology more info
located_in lumenal side of endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
located_in mitotic spindle	ISO Inferred from Sequence Orthology more info
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in non-motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of polycystin complex	IDA Inferred from Direct Assay more info	PubMed
part_of polycystin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of polycystin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: polycystin-2

Names: polycystic kidney disease 2 protein homolog; transient receptor potential cation channel subfamily P member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008861.3 → NP_032887.3 polycystin-2

See identical proteins and their annotated locations for NP_032887.3

Status: VALIDATED

Source sequence(s)

AC123687, AK053502, AV517098, BU705556, CX566027

Consensus CDS

CCDS19487.1

UniProtKB/Swiss-Prot

O35245, Q9Z194

Related

ENSMUSP00000084041.4, ENSMUST00000086831.4

Conserved Domains (2) summary

pfam08016
Location:265 → 685

PKD_channel; Polycystin cation channel

cl08302
Location:730 → 776

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

104599379..104653685

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006534815.5 → XP_006534878.1 polycystin-2 isoform X1

UniProtKB/Swiss-Prot

O35245

Conserved Domains (3) summary

pfam08016
Location:266 → 629

PKD_channel; Polycystin cation channel

pfam18109
Location:776 → 810

Fer4_24; Ferredoxin I 4Fe-4S cluster domain

cl08302
Location:674 → 720

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...