ATP2B2 Chromosome 3
ATPase plasma membrane Ca2+ transporting 2
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What This Gene Does
The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"ATPases Ca2+ transporting|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
3p25.3
Ensembl
ENSG00000157087
Associated Conditions (7)
ATP2B2-related Progressive hearing impairment
Hearing loss
autosomal dominant 82
Neurodevelopmental disorder
ATP2B2-related disorder
Autosomal dominant nonsyndromic hearing loss
Epileptic encephalopathy
Key Variants
RS1057520233
Conflicting classifications of pathogenicity
ATP2B2-related Progressive hearing impairment, ATP2B2-related Progressive hearing impairment
Health Risk
RS143304473
Conflicting classifications of pathogenicity
Health Risk
RS146069247
Conflicting classifications of pathogenicity
Hearing loss, autosomal dominant 82, Hearing loss
Health Risk
RS199991046
Conflicting classifications of pathogenicity
Health Risk
RS2062203038
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS370301558
Conflicting classifications of pathogenicity
Health Risk
RS56120857
Conflicting classifications of pathogenicity
Health Risk
RS777396418
Conflicting classifications of pathogenicity
ATP2B2-related disorder, ATP2B2-related disorder
Health Risk
RS1064795322
Likely pathogenic
ATP2B2-related disorder, Hearing loss, autosomal dominant 82
Health Risk
RS1575005369
Likely pathogenic
Health Risk
RS1575009907
Likely pathogenic
Health Risk
RS2470212537
Likely pathogenic
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057520233 | Health Risk | Conflicting classifications of pathogenicity | ATP2B2-related Progressive hearing impairment, ATP2B2-related Progressive hearing impairment |
| RS143304473 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146069247 | Health Risk | Conflicting classifications of pathogenicity | Hearing loss, autosomal dominant 82, Hearing loss |
| RS199991046 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2062203038 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS370301558 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS56120857 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777396418 | Health Risk | Conflicting classifications of pathogenicity | ATP2B2-related disorder, ATP2B2-related disorder |
| RS1064795322 | Health Risk | Likely pathogenic | ATP2B2-related disorder, Hearing loss, autosomal dominant 82 |
| RS1575005369 | Health Risk | Likely pathogenic | — |
| RS1575009907 | Health Risk | Likely pathogenic | — |
| RS2470212537 | Health Risk | Likely pathogenic | — |
| RS2470498291 | Health Risk | Likely pathogenic | Hearing loss, autosomal dominant 82, Hearing loss |
| RS2470526970 | Health Risk | Likely pathogenic | — |
| RS373130153 | Health Risk | Likely pathogenic | Hearing loss, autosomal dominant 82, Hearing loss |
| RS1363070884 | Health Risk | Pathogenic | — |
| RS199935477 | Health Risk | Pathogenic | — |
| RS2060537889 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 82, Hearing loss |
| RS2061464108 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss, Autosomal dominant nonsyndromic hearing loss |
| RS2061743269 | Health Risk | Pathogenic | — |
| RS2124844270 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 82, Hearing loss |
| RS2125368879 | Health Risk | Pathogenic | — |
| RS2125394967 | Health Risk | Pathogenic | — |
| RS2470148244 | Health Risk | Pathogenic | — |
| RS2470170430 | Health Risk | Pathogenic | — |
| RS2470282013 | Health Risk | Pathogenic | — |
| RS2470282949 | Health Risk | Pathogenic | — |
| RS2470442713 | Health Risk | Pathogenic | — |
| RS2470657062 | Health Risk | Pathogenic | — |
| RS2471024175 | Health Risk | Pathogenic | — |
| RS267599520 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 82, Hearing loss |
| RS752990722 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 82, Hearing loss |
| RS1487836380 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1553564078 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1553652886 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2125357775 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, Neurodevelopmental disorder, Epileptic encephalopathy |