Gene

Atp2b2

Species
Mus musculus
Symbol
Atp2b2
Name
ATPase, Ca++ transporting, plasma membrane 2
Synonyms
  • D6Abb2e
  • deaf waddler
Biotype
protein coding gene
Automated Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24093
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
113.75M113.80M113.85M113.90M113.95M114.00M

Sequence Details

Loading...

Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions