ATP2B2
ATPase Plasma Membrane Ca2+ Transporting 2
Gene Information Card
| Symbol | ATP2B2 |
|---|---|
| Full Name | ATPase Plasma Membrane Ca2+ Transporting 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 491 ncbi.nlm.nih.gov/gene/491 |
| Ensembl ID | ENSG00000157087 |
| UniProt ID | Q01814 |
| OMIM ID | 108733 |
| HGNC ID | 815 |
| Aliases | PMCA2, ATP2B2I, ATP2B2II, ATP2B2III |
Description
ATP2B2 encodes the plasma membrane calcium-transporting ATPase 2 (PMCA2), a P-type ATPase that pumps calcium ions from the cytoplasm into the extracellular space. PMCA2 is critical for calcium homeostasis in sensory hair cells of the inner ear and in neurons. Mutations in ATP2B2 cause autosomal dominant deafness and are associated with cerebellar ataxia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deafness, autosomal dominant 82 (DFNA82) | Loss-of-function mutations impair calcium extrusion from hair cells, leading to excitotoxicity and cell death | ClinVar, OMIM |
| Spinocerebellar ataxia, autosomal recessive 29 (SCAR29) | Biallelic missense variants reduce pump activity, disrupting Purkinje cell calcium signaling | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 28.5 | High |
| Cerebral cortex | 15.2 | Medium |
| Inner ear (cochlea) | 40.1 | High |
| Heart | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 22.3 | Neuronal model |
| HEK293 (embryonic kidney) | 12.1 | Common overexpression system |
| K562 (leukemia) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2459G>A (p.Arg820Gln) | Missense | 0.001% (gnomAD) | Reduced calcium affinity; DFNA82 |
| c.1115C>T (p.Thr372Met) | Missense | 0.0005% | Impaired pump activity; SCAR29 |
| c.1975_1977del (p.Phe659del) | In-frame deletion | Rare | Loss of function; deafness |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that reduce calcium transport activity, leading to deafness and ataxia.
Gain of Function (GOF)
Not reported for ATP2B2.
Dominant Negative (DN)
Heterozygous missense mutations in the pump domain can interfere with wild-type PMCA2 function.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion transmembrane transport | • ATP hydrolysis coupled cation transmembrane transport |
| • plasma membrane | • calcium-exporting ATPase activity |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
Protein Summary
PMCA2 is a 1243-amino acid integral membrane protein with 10 transmembrane domains, a large cytoplasmic loop containing the ATP-binding and phosphorylation sites, and a C-terminal calmodulin-binding domain. It is highly expressed in stereocilia of inner ear hair cells and cerebellar Purkinje neurons, where it rapidly extrudes calcium to maintain low intracellular Ca2+ levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP2B2 Knockout HEK293 Cell Line | EDJ-KQ1551 | Human | 491 | Details Get a Quote |
| ATP2B2 Knockout HeLa Cell Line | EDJ-KQ52685 | Human | 491 | Details Get a Quote |
| ATP2B2 Knockout A-549 Cell Line | EDJ-KQ61156 | Human | 491 | Details Get a Quote |
| ATP2B2 Knockout HCT 116 Cell Line | EDJ-KQ69644 | Human | 491 | Details Get a Quote |
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