SLC25A23: Mitochondrial Calcium Uniporter Regulator
Solute Carrier Family 25 Member 23 – Calcium-Binding Mitochondrial Carrier Protein
Gene Information Card
| Symbol | SLC25A23 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 23 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 79085 ncbi.nlm.nih.gov/gene/79085 |
| Ensembl ID | ENSG00000125648 |
| UniProt ID | Q9BV35 |
| OMIM ID | 608748 |
| HGNC ID | 20672 |
| Aliases | SCaMC-3, APC2, MCART2 |
Description
SLC25A23 encodes a member of the mitochondrial solute carrier family (SLC25). The protein, also known as SCaMC-3 (Small Calcium-binding Mitochondrial Carrier 3) or APC2 (ATP-Mg/Pi Carrier 2), is localized to the inner mitochondrial membrane. It functions as an ATP-Mg/Pi exchanger and directly interacts with the mitochondrial calcium uniporter (MCU) complex, regulating mitochondrial calcium uptake. The protein contains EF-hand calcium-binding domains, enabling calcium-dependent modulation of its carrier activity and thus coupling calcium signaling to mitochondrial energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial calcium overload disorders | Dysregulation of MCU activity due to altered SLC25A23 expression may lead to mitochondrial calcium overload, contributing to cell death in ischemia-reperfusion injury and neurodegenerative conditions. | PMID: 23063126; NCBI GeneRIF |
| Cancer (potential) | Altered SLC25A23 expression has been observed in certain cancers, possibly affecting mitochondrial metabolism and apoptosis resistance. | COSMIC; NCBI GeneRIF |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.2 | Medium |
| Liver | 8.1 | Medium |
| Brain | 6.4 | Low |
| Kidney | 7.9 | Medium |
| Pancreas | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in kidney-derived line |
| HeLa | 9.8 | Moderate expression |
| HepG2 | 7.5 | Moderate expression |
| K562 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.574C>T (p.Arg192Trp) | Missense | <0.01% | Unknown; predicted possibly damaging (PolyPhen-2) |
| c.1018G>A (p.Gly340Ser) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ATP:ADP antiporter activity (GO:0005476) | • protein binding (GO:0005515) |
| • mitochondrion (GO:0005739) | • integral component of membrane (GO:0016021) |
| • transport (GO:0006810) | • calcium ion binding (GO:0005509) |
Pathways
• Mitochondrial calcium transport (Reactome: R-HSA-8949215)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
SLC25A23 is a 461-amino acid mitochondrial inner membrane protein with six transmembrane helices and two EF-hand calcium-binding domains. It functions as an ATP-Mg/Pi antiporter, exchanging ATP-Mg for phosphate across the inner mitochondrial membrane. Through its calcium-binding domains, the protein senses cytosolic calcium and modulates the activity of the mitochondrial calcium uniporter (MCU) complex, thereby regulating mitochondrial calcium uptake and downstream metabolic processes. The protein is ubiquitously expressed with highest levels in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A23 Knockout HEK293 Cell Line | EDJ-KQ12172 | Human | 79085 | Details Get a Quote |
| SLC25A23 Knockout A-549 Cell Line | EDJ-KQ40881 | Human | 79085 | Details Get a Quote |
| SLC25A23 Knockout HCT 116 Cell Line | EDJ-KQ40882 | Human | 79085 | Details Get a Quote |
| SLC25A23 Knockout HeLa Cell Line | EDJ-KQ40883 | Human | 79085 | Details Get a Quote |
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