SLC23A2: Solute Carrier Family 23 Member 2
Vitamin C Transporter SVCT2: Genetic Variants, Expression, and Disease Associations
Gene Information Card
| Symbol | SLC23A2 |
|---|---|
| Full Name | Solute Carrier Family 23 Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 9962 ncbi.nlm.nih.gov/gene/9962 |
| Ensembl ID | ENSG00000101220 |
| UniProt ID | Q9UGH3 |
| OMIM ID | 603791 |
| HGNC ID | 10972 |
| Aliases | SVCT2, KIAA0238, YBAP |
Description
SLC23A2 encodes the sodium-dependent vitamin C transporter 2 (SVCT2), a transmembrane protein responsible for the cellular uptake of L-ascorbic acid (vitamin C). SVCT2 is the primary vitamin C transporter in most tissues, including brain, retina, and endocrine organs. It plays a critical role in antioxidant defense, collagen synthesis, and neurotransmitter biosynthesis. The gene is located on chromosome 20p13 and consists of 18 exons.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vitamin C deficiency (scurvy) | Impaired ascorbate transport due to SLC23A2 variants reduces cellular vitamin C uptake, leading to systemic deficiency. | PMID: 18400671 |
| Gastric cancer | Reduced SLC23A2 expression in gastric mucosa correlates with lower vitamin C levels and increased cancer risk. | PMID: 21044950 |
| Age-related macular degeneration (AMD) | SLC23A2 polymorphisms (e.g., rs6133175) are associated with altered vitamin C transport in retinal pigment epithelium. | PMID: 23449719 |
| Preterm birth | Maternal SLC23A2 variants influence vitamin C status and risk of preterm delivery. | PMID: 23134879 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Adrenal gland | 18.7 | High |
| Retina | 15.2 | High |
| Liver | 4.1 | Low |
| Kidney | 8.9 | Medium |
| Lung | 6.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| SH-SY5Y | 11.2 | Neuronal model |
| HepG2 | 5.8 | Hepatocyte line |
| ARPE-19 | 9.3 | Retinal pigment epithelium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124G>A (p.Gly42Arg) | Missense | <0.01% | Reduced ascorbate transport activity |
| c.1075C>T (p.Arg359Trp) | Missense | <0.01% | Impaired membrane localization |
| c.1465G>A (p.Glu489Lys) | Missense | <0.01% | Decreased substrate affinity |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly42Arg, p.Arg359Trp) reduce or abolish ascorbate transport.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
Not described for SLC23A2.
View complete mutation data：
Gene Ontology (GO)
| • sodium-dependent L-ascorbate transmembrane transporter activity (GO:0015238) | • L-ascorbic acid transmembrane transport (GO:0015882) |
| • integral component of plasma membrane (GO:0005887) | • transmembrane transport (GO:0055085) |
Pathways
• Vitamin C (ascorbate) metabolism
• Transport of glucose and other sugars
• bile salts
• and organic acids
• metal ions and amine compounds
Protein Summary
SVCT2 is a 650-amino acid protein with 12 transmembrane domains. It mediates high-affinity, sodium-coupled uptake of L-ascorbic acid. The protein is essential for maintaining intracellular vitamin C levels, particularly in neurons and endocrine cells. SVCT2 deficiency leads to oxidative stress and impaired collagen synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC23A2 Knockout HEK293 Cell Line | EDJ-KQ2732 | Human | 9962 | Details Get a Quote |
| SLC23A2 Knockout HeLa Cell Line | EDJ-KQ18340 | Human | 9962 | Details Get a Quote |
| SLC23A2 Knockout A-549 Cell Line | EDJ-KQ22224 | Human | 9962 | Details Get a Quote |
| SLC23A2 Knockout HCT 116 Cell Line | EDJ-KQ23597 | Human | 9962 | Details Get a Quote |
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