ATPase plasma membrane Ca2+ transporting 2
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAtaxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownautosomal dominant nonsyndromic hearing loss
hearing loss, autosomal dominant 82
hearing loss, autosomal recessive
Epileptic encephalopathy
hypertensive disorder
deafness
insomnia
neurodevelopmental disorder
Increased blood pressure
Intellectual disability
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Plasma membrane calcium-transporting ATPase 2
ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels in specialized cells of cerebellar circuit and vestibular and cochlear systems (PubMed:15829536, PubMed:17234811). Uses ATP as an energy source to transport cytosolic Ca(2+) ions across the plasma membrane to the extracellular compartment (PubMed:15829536, PubMed:17234811). Has fast activation and Ca(2+) clearance rate suited to control fast neuronal Ca(2+) dynamics. At parallel fiber to Purkinje neuron synapse, mediates presynaptic Ca(2+) efflux in response to climbing fiber-induced Ca(2+) rise. Provides for fast return of Ca(2+) concentrations back to their resting levels, ultimately contributing to long-term depression induction and motor learning (By similarity). Plays an essential role in hearing and balance (PubMed:15829536, PubMed:17234811). In cochlear hair cells, shuttles Ca(2+) ions from stereocilia to the endolymph and dissipates Ca(2+) transients generated by the opening of the mechanoelectrical transduction channels. Regulates Ca(2+) levels in the vestibular system, where it contributes to the formation of otoconia (PubMed:15829536, PubMed:17234811). In non-excitable cells, regulates Ca(2+) signaling through spatial control of Ca(2+) ions extrusion and dissipation of Ca(2+) transients generated by store-operated channels (PubMed:25690014). In lactating mammary gland, allows for the high content of Ca(2+) ions in the milk (By similarity)
Curated MONDO disease pages that list ATP2B2 among their top associated genes.
ATP2B2 · Q01814
Mean pLDDT
73.4/ 100
Confident
1,243 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
