| Primary Identifier | MGI:1099818 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 18764 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including ATPase binding activity; identical protein binding activity; and monoatomic cation channel activity. Involved in several processes, including detection of nodal flow; metal ion transport; and positive regulation of biosynthetic process. Acts upstream of or within several processes, including intracellular calcium ion homeostasis; liver development; and negative regulation of ryanodine-sensitive calcium-release channel activity. 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; central nervous system; early conceptus; genitourinary system; and sensory organ. 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). PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in cardiac septation, kidney and pancreatic cysts, impaired left-right axis determination, and late-gestation lethality. Heterozygotes show kidney and liver lesions and have reduced longevity. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
