Gene
pkd2
- ID
- ZDB-GENE-040827-4
- Name
- polycystic kidney disease 2
- Symbol
- pkd2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have several functions, including calcium ion binding activity; cation channel activity; and muscle alpha-actinin binding activity. Involved in several processes, including Kupffer's vesicle development; circulatory system development; and kidney development. Localizes to basolateral plasma membrane; cilium; and endoplasmic reticulum. Used to study autosomal dominant 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. Is expressed in several structures, including germ ring; heart; nervous system; pleuroperitoneal region; and tail bud. Orthologous to human PKD2 (polycystin 2, transient receptor potential cation channel).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 26 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 104 figures from 48 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
polycystic kidney disease 2 | Alliance | Polycystic kidney disease 2 | 613095 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | EF-hand domain | EF-hand domain pair | Polycystic kidney disease type 2 protein | Polycystin | Polycystin cation channel, PKD1/PKD2 | Polycystin domain |
---|---|---|---|---|---|---|---|
UniProtKB:Q6IVV8
|
904 | ||||||
UniProtKB:A0A8M6YVJ7
|
903 |
Interactions and Pathways
No data available
Plasmids
No data available