SLC24A2: Sodium/Potassium/Calcium Exchanger 2
Solute Carrier Family 24 Member 2 – NCBI, Ensembl, UniProt, OMIM, HGNC, COSMIC, ClinVar
Gene Information Card
| Symbol | SLC24A2 |
|---|---|
| Full Name | solute carrier family 24 member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p22.1 |
| NCBI Gene ID | 25769 ncbi.nlm.nih.gov/gene/25769 |
| Ensembl ID | ENSG00000106991 |
| UniProt ID | Q9UJQ4 |
| OMIM ID | 609841 |
| HGNC ID | 10977 |
| Aliases | NCKX2, SLC24A2, solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 |
Description
SLC24A2 encodes NCKX2, a member of the SLC24 family of sodium/potassium/calcium exchangers. This protein mediates the electrogenic exchange of K+-dependent Na+/Ca2+ across the plasma membrane, playing a critical role in calcium homeostasis in retinal cone photoreceptors and neurons. Mutations in SLC24A2 are associated with retinal dystrophies and cone dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cone dystrophy with supernormal rod response | Impaired calcium extrusion in cone photoreceptors due to loss-of-function variants | ClinVar, OMIM |
| Retinitis pigmentosa (rare cases) | Disrupted retinal calcium signaling | ClinVar |
| Cone-rod dystrophy | Defective NCKX2 exchanger activity leads to calcium overload | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Brain (cerebellum) | 8.3 | Medium |
| Brain (cortex) | 6.1 | Medium |
| Testis | 2.4 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.2 | High expression |
| SH-SY5Y (neuroblastoma) | 7.8 | Moderate expression |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
| HeLa (cervical carcinoma) | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1043G>A (p.Arg348His) | Missense | <0.01% | Reduced exchanger activity; associated with cone dystrophy |
| c.1667C>T (p.Thr556Met) | Missense | <0.01% | Impaired calcium transport; reported in retinitis pigmentosa |
| c.214delC (p.Leu72Trpfs*13) | Frameshift | <0.01% | Loss of function; pathogenic in cone-rod dystrophy |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense variants (e.g., p.Leu72Trpfs*13, p.Arg348His) reduce or abolish NCKX2 exchanger activity, leading to retinal degeneration.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC24A2.
Dominant Negative (DN)
No dominant-negative mechanisms described for SLC24A2.
View complete mutation data：
Gene Ontology (GO)
| • sodium:potassium:calcium exchanger activity (GO:0005452) | • calcium ion transport (GO:0006816) |
| • sodium ion transport (GO:0006814) | • potassium ion transport (GO:0006813) |
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
• Retinoid cycle and phototransduction (Reactome: R-HSA-2453902)
Protein Summary
NCKX2 (UniProt Q9UJQ4) is a 661-amino acid multi-pass membrane protein with 10 transmembrane domains. It functions as a K+-dependent Na+/Ca2+ exchanger, utilizing the inward Na+ gradient to extrude Ca2+ from cells, with K+ co-transported in the same direction. The protein is highly expressed in retinal cone photoreceptors and brain, where it regulates intracellular calcium levels essential for phototransduction and neuronal signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC24A2 Knockout HEK293 Cell Line | EDJ-KQ8217 | Human | 25769 | Details Get a Quote |
| SLC24A2 Knockout HeLa Cell Line | EDJ-KQ55813 | Human | 25769 | Details Get a Quote |
| SLC24A2 Knockout A-549 Cell Line | EDJ-KQ64307 | Human | 25769 | Details Get a Quote |
| SLC24A2 Knockout HCT 116 Cell Line | EDJ-KQ72759 | Human | 25769 | Details Get a Quote |
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