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).
MGI Description
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]