SLC13A2: Solute Carrier Family 13 Member 2
Sodium-Dependent Dicarboxylate Transporter (NaDC-1) – Gene Overview
Gene Information Card
| Symbol | SLC13A2 |
|---|---|
| Full Name | Solute Carrier Family 13 Member 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 9058 ncbi.nlm.nih.gov/gene/9058 |
| Ensembl ID | ENSG00000108469 |
| UniProt ID | Q13183 |
| OMIM ID | 604148 |
| HGNC ID | 10921 |
| Aliases | NaDC-1, SDCT1, SLC13A2 |
Description
SLC13A2 encodes the sodium-dependent dicarboxylate transporter NaDC-1, which mediates the electrogenic cotransport of sodium ions with dicarboxylates such as succinate, citrate, and α-ketoglutarate. The transporter is primarily expressed in the apical membrane of renal proximal tubule cells and intestinal epithelial cells, playing a key role in the reabsorption of Krebs cycle intermediates and the maintenance of citrate homeostasis. SLC13A2 is also involved in the renal handling of citrate, which influences urinary citrate levels and kidney stone formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypocitraturia / Nephrolithiasis | Reduced SLC13A2 activity leads to decreased renal citrate reabsorption, resulting in low urinary citrate and increased risk of calcium oxalate kidney stones. | ClinVar, OMIM #604148 |
| Primary Hyperoxaluria (modifier) | Altered dicarboxylate transport may influence oxalate handling and stone formation in hyperoxaluric conditions. | NCBI Gene, PubMed |
| Chronic Kidney Disease | Dysregulation of SLC13A2 expression in proximal tubules contributes to altered citrate metabolism and metabolic acidosis. | PubMed, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 45.2 | High |
| Small Intestine | 22.8 | Medium |
| Liver | 8.1 | Low |
| Brain | 3.5 | Low |
| Testis | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HK-2 (kidney proximal tubule) | 68.4 | High expression; model for renal transport studies |
| Caco-2 (intestinal) | 31.2 | Moderate expression; used for intestinal absorption assays |
| HepG2 (liver) | 5.9 | Low expression |
| SH-SY5Y (neuronal) | 1.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1195C>T (p.Arg399Cys) | Missense | <0.01% | Reduced transport activity; associated with hypocitraturia |
| c.1400G>A (p.Arg467His) | Missense | <0.01% | Decreased citrate uptake; potential modifier for nephrolithiasis |
| c.1726G>A (p.Gly576Arg) | Missense | <0.01% | Loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg399Cys, p.Gly576Arg) reduce or abolish sodium-dependent dicarboxylate transport, leading to decreased renal citrate reabsorption and hypocitraturia.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SLC13A2.
Dominant Negative (DN)
No dominant-negative effects have been described; SLC13A2 functions as a monomer, and loss-of-function is likely recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Transport of dicarboxylates and citrate (Reactome: R-HSA-425410)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
• Citrate cycle (TCA cycle) – indirect involvement via substrate transport
Protein Summary
NaDC-1 (SLC13A2) is a 593-amino acid integral membrane protein with 11 transmembrane domains. It functions as a high-affinity, sodium-coupled dicarboxylate symporter, preferentially transporting succinate, citrate, and α-ketoglutarate. The protein is localized to the apical membrane of renal proximal tubule cells and intestinal enterocytes, where it mediates the electrogenic cotransport of three Na+ ions per divalent dicarboxylate. NaDC-1 activity is regulated by pH, membrane potential, and substrate availability, and it plays a critical role in renal citrate handling and systemic acid-base balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC13A2 Knockout HEK293 Cell Line | EDJ-KQ6447 | Human | 9058 | Details Get a Quote |
| SLC13A2 Knockout HeLa Cell Line | EDJ-KQ55068 | Human | 9058 | Details Get a Quote |
| SLC13A2 Knockout A-549 Cell Line | EDJ-KQ63550 | Human | 9058 | Details Get a Quote |
| SLC13A2 Knockout HCT 116 Cell Line | EDJ-KQ72018 | Human | 9058 | Details Get a Quote |
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