| Primary Identifier | MGI:105368 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 11941 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables calcium-dependent ATPase activity. Involved in cochlea development and regulation of cytosolic calcium ion concentration. Acts upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of sound; lactation; and neuron differentiation. Located in several cellular components, including apical plasma membrane; endoplasmic reticulum; and neuronal cell body. Is active in glutamatergic synapse; photoreceptor ribbon synapse; and presynaptic membrane. Is expressed in heart; labyrinthine zone; liver; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness and autosomal recessive nonsyndromic deafness 12. Orthologous to human ATP2B2 (ATPase plasma membrane Ca2+ transporting 2). PHENOTYPE: Homozygous mutants exhibit slower growth, balance problems, and deafness, associated with cerebellar abnormalities, an absence of otoconia, and abnormalities of the organ of Corti. Heterozygotes exhibit appreciable age-dependent hearing loss. [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
