ATP2B4
Plasma Membrane Calcium-Transporting ATPase 4
Gene Information Card
| Symbol | ATP2B4 |
|---|---|
| Full Name | ATPase Plasma Membrane Ca2+ Transporting 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 493 ncbi.nlm.nih.gov/gene/493 |
| Ensembl ID | ENSG00000158669 |
| UniProt ID | P23634 |
| OMIM ID | 108732 |
| HGNC ID | 817 |
| Aliases | PMCA4, PMCA4b, MXRA1, ATP2B2 |
Description
The ATP2B4 gene encodes the plasma membrane calcium-transporting ATPase 4 (PMCA4), a P-type ATPase that pumps calcium ions out of the cell, playing a critical role in intracellular calcium homeostasis. It is widely expressed and involved in muscle contraction, neuronal signaling, and cell growth regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia | Loss-of-function mutations impair calcium extrusion, leading to neuronal calcium overload and axonal degeneration. | ClinVar, OMIM |
| Cardiac Hypertrophy | Altered PMCA4 expression disrupts calcium handling in cardiomyocytes, contributing to hypertrophic signaling. | NCBI Gene, PubMed |
| Breast Cancer | Reduced ATP2B4 expression correlates with poor prognosis; PMCA4 loss may promote calcium-dependent proliferation. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 25.3 | High |
| Brain | 18.7 | Medium |
| Skeletal Muscle | 22.1 | High |
| Liver | 8.4 | Low |
| Kidney | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 30.5 | High expression |
| HeLa | 12.8 | Moderate expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Reduced calcium pump activity |
| c.2567_2568del (p.Leu856fs) | Frameshift | 0.001% | Loss of function |
| c.3456G>A (p.Glu1152Lys) | Missense | 0.005% | Altered ATP binding |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt catalytic domains.
Gain of Function (GOF)
Not reported in ATP2B4.
Dominant Negative (DN)
Missense mutations that impair pump function while retaining membrane localization may exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion transport | • ATP binding |
| • plasma membrane | • calcium ion transmembrane transport |
| • metal ion binding |
Pathways
• Calcium signaling pathway
• Cardiac muscle contraction
• Smooth muscle contraction
Protein Summary
PMCA4 is a 1205-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 uses ATP to transport Ca2+ from the cytosol to the extracellular space, maintaining low intracellular calcium levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP2B4 Knockout HEK293 Cell Line | EDJ-KQ1550 | Human | 493 | Details Get a Quote |
| ATP2B4 Knockout A-549 Cell Line | EDJ-KQ21224 | Human | 493 | Details Get a Quote |
| ATP2B4 Knockout HCT 116 Cell Line | EDJ-KQ21225 | Human | 493 | Details Get a Quote |
| ATP2B4 Knockout HeLa Cell Line | EDC90502 | Human | 493 | Details Get a Quote |
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