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
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
Allele Type Localization Consequence Mutagen Supplier
hi4166TgTransgenic insertionIntron 1UnknownDNA
hu2173Allele with one point mutationUnknownUnknownENU
ouc2015Allele with one delinsUnknownUnknownCRISPR
sa18074Allele with one point mutationUnknownSplice SiteENU
sa18283Allele with one point mutationUnknownPremature StopENU
sa38295Allele with one point mutationUnknownPremature StopENU
tc321Allele with one point mutationUnknownUnknownENU
tg226dunknownUnknownUnknownnot specified
tp85aunknownUnknownUnknownENU
ty30unknownUnknownUnknownENU
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Sequence Targeting Reagents
1 - 10 of 17
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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
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Associated With pkd2 Via Experimental Models
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
1 - 5 of 6 Show all
Domain Details Per Protein
Protein Additional Resources Length EF-hand domain EF-hand domain pair Polycystic kidney disease type 2 protein Polycystin Polycystin cation channel, PKD1/PKD2 Polycystin domain
UniProtKB:Q6IVV8 InterPro 904
UniProtKB:A0A8M6YVJ7 InterPro 903
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 1
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA pkd2-201 (1) Ensembl 3,336 nt
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Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab4-pkd2 monoclonal IgG2b , k Mouse
  • WB
3
Ab2-pkd2 polyclonal IgG Rabbit
  • IHC
GeneTex
3
Ab1-pkd2 polyclonal Rabbit
  • IHC
5
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Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-192D9ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanPKD24
Conserved genome location (synteny) (1)
Phylogenetic tree (1)
Amino acid sequence comparison (4)
Functional complementation (1)
MousePkd25
Functional complementation (1)
Amino acid sequence comparison (2)
Phylogenetic tree (1)
Citations
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