| Primary Identifier | MGI:2444879 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 193385 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables identical protein binding activity. Involved in several processes, including auditory receptor cell stereocilium organization; cellular response to mechanical stimulus; and positive regulation of neutrophil migration. Located in stereocilium. Is expressed in several structures, including brain; heart; inner ear; liver; and lung. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 21 and autosomal recessive nonsyndromic deafness 104. Orthologous to human RIPOR2 (RHO family interacting cell polarization regulator 2). PHENOTYPE: Homozygous knockout mice are deaf. The gene product is expressed in the basal region of cochlear hair cell stereocillia, which are disorganized and malformed in null mice. [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
