| 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 8.0.0) Enables calcium-dependent ATPase activity. Involved in calcium ion transport; 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 82 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
