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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]
[中文简述(自动翻译):]  由该基因编码的蛋白质属于家庭P型初级离子迁移ATP酶特征天冬氨酰磷酸的反应周期期间中间体的形成。这些酶移除真核细胞中的二价钙离子对非常大的浓度梯度,发挥细胞内钙稳态的关键作用。哺乳动物质膜钙ATP酶同种型是通过至少四个分开的基因编码,并且这些酶的多样性被进一步增加转录物的可变剪接。不同同种型和剪接变体的表达在发育,组织 - 和细胞类型特异性的方式被限制,这表明这些泵在功能上适用于特定的细胞和组织的生理需要。该基因编码质膜钙ATP酶同种型3。可替代地剪接转录变体编码不同同种型也已确定。 [由RefSeq的,2008年7月提供]
ATP2B3基因(以及对应的蛋白质)的细胞分布位置:
ATP2B3基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| SPINOCEREBELLAR ATAXIA, X-LINKED 1 | 0.24 | 1 | 1 | CLINVAR_UNIPROT |
| Adenoma | 0.120542884 | 2 | 0 | BeFree_CTD_human |
| Hypertensive disease | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Hyperaldosteronism | 0.12 | 1 | 0 | CTD_human |
| Aldosterone-Producing Adrenal Cortex Adenoma | 0.12 | 0 | 3 | CLINVAR |
| Spinocerebellar Ataxia, X-Linked 5 | 0.12 | 0 | 0 | ORPHANET |
| Attention deficit hyperactivity disorder | 0.002367032 | 1 | 0 | GAD |
| Cerebellar Ataxia | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
| Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Ataxia | 0.000542884 | 2 | 0 | BeFree |
| Presenile dementia | 0.000542884 | 2 | 0 | BeFree |
| Olivopontocerebellar Atrophies | 0.000542884 | 2 | 0 | BeFree |
| Cataract | 0.000542884 | 2 | 0 | BeFree |
| Dementia | 0.000542884 | 2 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Essential Hypertension | 0.000271442 | 1 | 0 | BeFree |
| Hearing Loss, Mixed Conductive-Sensorineural | 0.000271442 | 1 | 0 | BeFree |
| Secondary hypertension | 0.000271442 | 1 | 0 | BeFree |
| Centronuclear myopathy | 0.000271442 | 1 | 0 | BeFree |
| Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Congenital cerebellar ataxia | 0.000271442 | 1 | 0 | BeFree |
| Conn Syndrome | 0.000271442 | 1 | 0 | BeFree |
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