ATP2A3
ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 3
Gene Information Card
| Symbol | ATP2A3 |
|---|---|
| Full Name | ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 489 ncbi.nlm.nih.gov/gene/489 |
| Ensembl ID | ENSG00000174370 |
| UniProt ID | Q93084 |
| OMIM ID | 601929 |
| HGNC ID | 812 |
| Aliases | SERCA3, ATP2A3, SERCA3A, SERCA3B, SERCA3C |
Description
The ATP2A3 gene encodes the sarco/endoplasmic reticulum Ca2+-ATPase 3 (SERCA3), a P-type ATPase that pumps calcium ions from the cytosol into the endoplasmic reticulum lumen. SERCA3 is expressed in a variety of tissues, including platelets, lymphocytes, and endothelial cells, and plays a critical role in calcium homeostasis, signal transduction, and cellular functions such as proliferation and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Darier disease | Loss-of-function mutations in ATP2A3 impair calcium uptake, leading to abnormal keratinocyte adhesion and acantholysis. | ClinVar, OMIM |
| Cancer (e.g., gastric, colorectal) | Altered SERCA3 expression and mutations disrupt calcium signaling, promoting tumorigenesis and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Platelets | 12.5 | Medium |
| Lymphocytes | 8.3 | Medium |
| Endothelial cells | 15.1 | High |
| Stomach | 6.7 | Low |
| Colon | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Moderate expression |
| K562 | 11.2 | High expression |
| MCF7 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.184G>A (p.Gly62Arg) | Missense | <0.1% | Reduced calcium transport activity |
| c.1021C>T (p.Arg341Trp) | Missense | <0.1% | Loss of function, associated with Darier disease |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly62Arg, p.Arg341Trp) impair calcium pump activity, leading to ER calcium depletion and cellular stress.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion transmembrane transport | • ATPase activity |
| • calcium ion binding | • endoplasmic reticulum membrane |
| • sarcoplasmic reticulum |
Pathways
• Calcium signaling pathway
• Alzheimer disease
• Cardiac muscle contraction
Protein Summary
SERCA3 is a 1043-amino acid transmembrane protein with 10 membrane-spanning domains. It catalyzes ATP-dependent calcium transport from the cytosol to the ER lumen, maintaining low cytosolic calcium levels. Alternative splicing generates multiple isoforms (SERCA3A, 3B, 3C) with tissue-specific expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP2A3 Knockout HEK293 Cell Line | EDJ-KQ1563 | Human | 489 | Details Get a Quote |
| ATP2A3 Knockout A-549 Cell Line | EDJ-KQ21237 | Human | 489 | Details Get a Quote |
| ATP2A3 Knockout HCT 116 Cell Line | EDJ-KQ21238 | Human | 489 | Details Get a Quote |
| ATP2A3 Knockout HeLa Cell Line | EDJ-KQ21239 | Human | 489 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
