ATP2B3 Chromosome X
ATPase plasma membrane Ca2+ transporting 3
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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 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"ATPases Ca2+ transporting|Cilia and flagella associated"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000067842
Associated Conditions (7)
Inborn genetic diseases
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
X-linked progressive cerebellar ataxia
8 conditions
Spastic ataxia
Aldosterone-producing adrenal cortex adenoma
Key Variants
RS149114271
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781901998
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1603040061
Likely pathogenic
Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
Health Risk
RS2124491843
Likely pathogenic
X-linked progressive cerebellar ataxia, X-linked progressive cerebellar ataxia
Health Risk
RS368215361
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS397514619
Likely pathogenic
X-linked progressive cerebellar ataxia, Inborn genetic diseases, X-linked progressive cerebellar ataxia
Health Risk
RS782596945
Likely pathogenic
8 conditions, X-linked progressive cerebellar ataxia, 8 conditions
Health Risk
RS782756404
Likely pathogenic
Spastic ataxia, Spastic ataxia
Health Risk
RS724160009
Pathogenic
Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma
Health Risk
RS724160011
Pathogenic
Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma
Health Risk
RS724160012
Pathogenic
Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149114271 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781901998 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1603040061 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita |
| RS2124491843 | Health Risk | Likely pathogenic | X-linked progressive cerebellar ataxia, X-linked progressive cerebellar ataxia |
| RS368215361 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS397514619 | Health Risk | Likely pathogenic | X-linked progressive cerebellar ataxia, Inborn genetic diseases, X-linked progressive cerebellar ataxia |
| RS782596945 | Health Risk | Likely pathogenic | 8 conditions, X-linked progressive cerebellar ataxia, 8 conditions |
| RS782756404 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |
| RS724160009 | Health Risk | Pathogenic | Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma |
| RS724160011 | Health Risk | Pathogenic | Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma |
| RS724160012 | Health Risk | Pathogenic | Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma |