SLC26A6: Solute Carrier Family 26 Member 6
Anion transporter involved in oxalate, chloride, and bicarbonate transport; associated with nephrolithiasis and metabolic disorders.
Gene Information Card
| Symbol | SLC26A6 |
|---|---|
| Full Name | Solute carrier family 26 member 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 65010 ncbi.nlm.nih.gov/gene/65010 |
| Ensembl ID | ENSG00000114541 |
| UniProt ID | Q9BXS9 |
| OMIM ID | 604887 |
| HGNC ID | 14471 |
| Aliases | DRA, CFEX, PAT1, PED, SLC26A6A, SLC26A6B |
Description
SLC26A6 (solute carrier family 26 member 6) encodes a multifunctional anion exchanger that mediates transport of chloride, bicarbonate, oxalate, sulfate, and formate across plasma membranes. It is highly expressed in kidney, pancreas, intestine, and other epithelia, playing critical roles in acid-base balance, oxalate homeostasis, and fluid secretion. Mutations in SLC26A6 are associated with nephrolithiasis (kidney stones) and may contribute to metabolic acidosis and pancreatic dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrolithiasis (calcium oxalate kidney stones) | Impaired oxalate transport leads to hyperoxaluria and stone formation | PMID: 17086179, ClinVar |
| Pancreatic insufficiency | Defective bicarbonate secretion affects pancreatic juice pH | PMID: 19188370 |
| Metabolic acidosis | Reduced renal bicarbonate reabsorption | PMID: 19188370 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 48.2 | High |
| Pancreas | 35.1 | High |
| Small intestine | 22.8 | Medium |
| Colon | 18.5 | Medium |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 52.4 | High expression in transfected cells |
| Caco-2 | 28.7 | Intestinal epithelial model |
| MDCK | 19.3 | Renal epithelial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1306C>T (p.Arg436Cys) | Missense | Rare | Reduced oxalate transport activity |
| c.1672G>A (p.Val558Met) | Missense | Rare | Altered chloride/bicarbonate exchange |
| c.1972C>T (p.Arg658Trp) | Missense | Rare | Loss of function in oxalate transport |
Mutation functional classification
Loss of Function (LOF)
p.Arg436Cys, p.Arg658Trp reduce or abolish oxalate and bicarbonate transport.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • bicarbonate transmembrane transporter activity (GO:0015106) | • oxalate transmembrane transporter activity (GO:0015111) |
| • anion:anion antiporter activity (GO:0015301) | • plasma membrane (GO:0005886) |
| • apical plasma membrane (GO:0016324) | • anion transport (GO:0006820) |
| • bicarbonate transport (GO:0015701) |
Pathways
• REACT:17015 - Transport of inorganic cations/anions and amino acids/oligopeptides
• REACT:17016 - SLC-mediated transmembrane transport
• REACT:17017 - Ion transport by P-type ATPases
Protein Summary
SLC26A6 is a 739-amino acid transmembrane protein with 14 predicted membrane-spanning domains. It functions as a chloride/bicarbonate exchanger and also transports oxalate, sulfate, and formate. The protein localizes to the apical membrane of epithelial cells in kidney proximal tubules, pancreatic ducts, and intestinal enterocytes. It is essential for renal oxalate excretion and pancreatic bicarbonate secretion. Structural studies indicate a homodimeric assembly with a central transport pathway.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC26A6 Knockout HEK293 Cell Line | EDJ-KQ15320 | Human | 65010 | Details Get a Quote |
| SLC26A6 Knockout A-549 Cell Line | EDJ-KQ46026 | Human | 65010 | Details Get a Quote |
| SLC26A6 Knockout HCT 116 Cell Line | EDJ-KQ46027 | Human | 65010 | Details Get a Quote |
| SLC26A6 Knockout HeLa Cell Line | EDJ-KQ46028 | Human | 65010 | Details Get a Quote |
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