Pkd2l1 polycystic kidney disease 2-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pkd2l1provided by MGI
Official Full Name: polycystic kidney disease 2-like 1provided by MGI
Primary source: MGI:MGI:1352448
See related: Ensembl:ENSMUSG00000037578 AllianceGenome:MGI:1352448
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: PCL; Pkdl; PKD2L; TRPP3; B830002B15
Summary: Enables calcium channel activity; calcium ion binding activity; and identical protein binding activity. Contributes to cation transmembrane transporter activity and sour taste receptor activity. Involved in several processes, including cellular response to acidic pH; detection of chemical stimulus involved in sensory perception of sour taste; and protein tetramerization. Located in endoplasmic reticulum and plasma membrane. Is integral component of plasma membrane. Part of calcium channel complex and receptor complex. Colocalizes with cell surface. Is expressed in cochlea; medulla oblongata; spinal cord; and tongue. Orthologous to human PKD2L1 (polycystin 2 like 1, transient receptor potential cation channel). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 2.9), cerebellum adult (RPKM 1.0) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 36.91 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (44136076..44235355, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (44147637..44248328, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

A Comparison of PKD2L1-Expressing Cerebrospinal Fluid Contacting Neurons in Spinal Cords of Rodents, Carnivores, and Primates.
Title: A Comparison of PKD2L1-Expressing Cerebrospinal Fluid Contacting Neurons in Spinal Cords of Rodents, Carnivores, and Primates.
Polycystic kidney disease 2-like 1 channel contributes to the bitter aftertaste perception of quinine.
Title: Polycystic kidney disease 2-like 1 channel contributes to the bitter aftertaste perception of quinine.
PKD2L1 deficiency increased p300-mediated acetylation of histone 3 lysine 27 on the promoter of sodium/calcium exchange 1 (NCX1) by repressing AMP-activated protein kinase (AMPK) activity, resulting in NCX1 overexpression and mitochondrial Ca(2+) overload.
Title: Deficiency of PKD2L1 (TRPP3) Exacerbates Pathological Cardiac Hypertrophy by Augmenting NCX1-Mediated Mitochondrial Calcium Overload.
The pore helix and transmembrane segment 6 of PKD2L1 are involved in upper and lower-gate opening, adopt an open conformation.
Title: Cryo-EM structure of the polycystic kidney disease-like channel PKD2L1.
In epileptic seizures mouse model, Pkdl deficiency leads to the loss of beta2AR on neuronal cilia, reduction in cAMP levels in the central nervous system, and reduction in the activation of cAMP response element-binding protein.
Title: Disruption of polycystin-L causes hippocampal and thalamocortical hyperexcitability.
This study demonstrated that spontaneously active unitary currents in CSF-cNs are due to PKD2L1 channels that are capable, with a single opening, of triggering action potentials
Title: A single polycystic kidney disease 2-like 1 channel opening acts as a spike generator in cerebrospinal fluid-contacting neurons of adult mouse brainstem.
sour taste cells in the posterior tongue express a proton current; the current is present in PKD2L1-expressing taste cells from circumvallate, foliate, and fungiform papillae but not in a variety of other cells
Title: A proton current associated with sour taste: distribution and functional properties.
findings suggest that PKD2L1 partly contributes to sour taste responses in mice and that receptors other than PKDs would be involved in sour detection
Title: Sour taste responses in mice lacking PKD channels.
All channel-forming isoforms of TRPP channels (polycystin-2, polycystin-L, and polycystin-2L2) were expressed in adult mouse lacrimal gland.
Title: Polycystin-2 expression and function in adult mouse lacrimal acinar cells.
These results demonstrate that Asp(523) in PKD2L1 is a key determinant of Ca(2+) permeation into the PKD1L3/PKD2L1 complex and that PKD2L1 contributes to forming the pore of the PKD1L3/PKD2L1 channel.
Title: The single pore residue Asp523 in PKD2L1 determines Ca2+ permeation of the PKD1L3/PKD2L1 complex.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (7)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pkd2l1 (e-PCR), detects polymorphism
- UniSTS:531224

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables alpha-actinin binding	ISO Inferred from Sequence Orthology more info
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium channel activity	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
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-activated cation channel activity	ISO Inferred from Sequence Orthology more info
enables calcium-activated potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-activated potassium channel activity	ISO Inferred from Sequence Orthology more info
enables cytoskeletal protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
contributes_to monoatomic cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic cation channel activity	IPI Inferred from Physical Interaction more info	PubMed
enables monoatomic cation channel activity	ISO Inferred from Sequence Orthology more info
contributes_to monoatomic cation transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables muscle alpha-actinin binding	IBA Inferred from Biological aspect of Ancestor more info
enables muscle alpha-actinin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium channel activity	ISO Inferred from Sequence Orthology more info
contributes_to sour taste receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within calcium ion transport	IEA Inferred from Electronic Annotation more info
involved_in cellular response to acidic pH	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to pH	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of chemical stimulus involved in sensory perception of sour taste	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of chemical stimulus involved in sensory perception of taste	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of mechanical stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in inorganic cation transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in inorganic cation transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in monoatomic cation transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in protein tetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in response to water	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sour taste	ISO Inferred from Sequence Orthology more info
involved_in smoothened signaling pathway	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 actin cytoskeleton	ISO Inferred from Sequence Orthology more info
part_of calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of calcium channel complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of calcium channel complex	ISO Inferred from Sequence Orthology more info
part_of cation channel complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
colocalizes_with cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IEA Inferred from Electronic Annotation 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 intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in non-motile cilium	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IPI Inferred from Physical Interaction more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: polycystin-2-like protein 1

Names: polycystic kidney disease 2-like 1 protein; polycystin-2 homolog; polycystin-2L1; polycystin-L

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_181422.3 → NP_852087.2 polycystin-2-like protein 1

See identical proteins and their annotated locations for NP_852087.2

Status: VALIDATED

Source sequence(s)

AC125101

Consensus CDS

CCDS29846.1

UniProtKB/Swiss-Prot

A2A259, Q14B55, Q14B73, Q80ZH4

Related

ENSMUSP00000045675.5, ENSMUST00000042026.5

Conserved Domains (2) summary

pfam08016
Location:146 → 567

PKD_channel; Polycystin cation channel

pfam13833
Location:616 → 654

EF-hand_8; EF-hand domain pair

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

44136076..44235355 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011247267.3 → XP_011245569.1 polycystin-2-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_011245569.1

Conserved Domains (3) summary

pfam08016
Location:118 → 538

PKD_channel; Polycystin cation channel

pfam18109
Location:670 → 703

Fer4_24; Ferredoxin I 4Fe-4S cluster domain

cl08302
Location:587 → 625

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 ...
XM_036161612.1 → XP_036017505.1 polycystin-2-like protein 1 isoform X1

Conserved Domains (3) summary

pfam08016
Location:118 → 538

PKD_channel; Polycystin cation channel

pfam18109
Location:670 → 703

Fer4_24; Ferredoxin I 4Fe-4S cluster domain

cl08302
Location:587 → 625

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 ...
XM_036161613.1 → XP_036017506.1 polycystin-2-like protein 1 isoform X1

Conserved Domains (3) summary

pfam08016
Location:118 → 538

PKD_channel; Polycystin cation channel

pfam18109
Location:670 → 703

Fer4_24; Ferredoxin I 4Fe-4S cluster domain

cl08302
Location:587 → 625

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 ...
XM_006527143.4 → XP_006527206.1 polycystin-2-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_006527206.1

Conserved Domains (3) summary

pfam08016
Location:118 → 538

PKD_channel; Polycystin cation channel

pfam18109
Location:670 → 703

Fer4_24; Ferredoxin I 4Fe-4S cluster domain

cl08302
Location:587 → 625

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 ...