ATP2B3
ATPase Plasma Membrane Ca2+ Transporting 3
Gene Information Card
| Symbol | ATP2B3 |
|---|---|
| Full Name | ATPase Plasma Membrane Ca2+ Transporting 3 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 492 ncbi.nlm.nih.gov/gene/492 |
| Ensembl ID | ENSG00000167842 |
| UniProt ID | Q16720 |
| OMIM ID | 300014 |
| HGNC ID | 817 |
| Aliases | PMCA3, ATP2B3a, ATP2B3b |
Description
ATP2B3 encodes the plasma membrane calcium-transporting ATPase 3 (PMCA3), a P-type ATPase that pumps calcium ions from the cytosol into the extracellular space. It is essential for maintaining intracellular calcium homeostasis, particularly in excitable cells such as neurons and muscle cells. Mutations in ATP2B3 are associated with X-linked cerebellar ataxia and other neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked cerebellar ataxia | Loss-of-function mutations impair calcium extrusion, leading to Purkinje cell dysfunction and degeneration. | ClinVar, OMIM |
| Spinocerebellar ataxia, X-linked 1 | Missense variants disrupt ATPase activity, causing progressive ataxia. | OMIM #302500 |
| Hereditary spastic paraplegia | Rare variants may alter calcium signaling in motor neurons. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Cerebellum | 18.7 | High |
| Heart | 6.5 | Low |
| Skeletal Muscle | 8.1 | Medium |
| Kidney | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuronal model |
| HeLa | 3.8 | Cervical carcinoma |
| HEK293 | 5.2 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2456G>A (p.Arg819His) | Missense | <0.01% | Reduced calcium ATPase activity |
| c.1880T>C (p.Leu627Pro) | Missense | <0.01% | Impaired protein folding and trafficking |
| c.3079C>T (p.Arg1027*) | Nonsense | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that reduce or abolish calcium pump activity.
Gain of Function (GOF)
Not reported for ATP2B3.
Dominant Negative (DN)
Not reported for ATP2B3.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion transport | • ATP hydrolysis activity |
| • plasma membrane | • calcium ion transmembrane transport |
| • P-type calcium transporter activity |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
Protein Summary
PMCA3 is a 1220-amino-acid integral membrane protein with 10 transmembrane domains, a large cytoplasmic loop containing the ATP-binding and phosphorylation sites, and a C-terminal regulatory domain. It undergoes alternative splicing to generate isoforms with distinct regulatory properties. The protein is highly expressed in the brain, especially in cerebellar Purkinje cells, where it plays a critical role in shaping calcium transients and neuronal excitability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP2B3 Knockout HEK293 Cell Line | EDJ-KQ1549 | Human | 492 | Details Get a Quote |
| ATP2B3 Knockout HeLa Cell Line | EDJ-KQ52686 | Human | 492 | Details Get a Quote |
| ATP2B3 Knockout A-549 Cell Line | EDJ-KQ61157 | Human | 492 | Details Get a Quote |
| ATP2B3 Knockout HCT 116 Cell Line | EDJ-KQ69645 | Human | 492 | Details Get a Quote |
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