| Primary Identifier | MGI:1926945 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 63873 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables several functions, including SH2 domain binding activity; calcium channel activity; and osmosensor activity. Involved in several processes, including cellular response to osmotic stress; positive regulation of MAPK cascade; and positive regulation of cytokine production. Acts upstream of or within hyperosmotic salinity response; regulation of response to osmotic stress; and vasopressin secretion. Located in adherens junction; cilium; and plasma membrane. Is expressed in several structures, including brain; limb; respiratory system; sensory organ; and skeleton. Used to study autosomal dominant nonsyndromic deafness 25. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2C; motor neuron disease (multiple); osteochondrodysplasia (multiple); and osteonecrosis. Orthologous to human TRPV4 (transient receptor potential cation channel subfamily V member 4). PHENOTYPE: Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits. [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
