SLC26A9: Solute Carrier Family 26 Member 9
Anion transporter involved in chloride and bicarbonate transport, linked to lung disease and male infertility.
Gene Information Card
| Symbol | SLC26A9 |
|---|---|
| Full Name | Solute Carrier Family 26 Member 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 115019 ncbi.nlm.nih.gov/gene/115019 |
| Ensembl ID | ENSG00000174527 |
| UniProt ID | Q7LBE3 |
| OMIM ID | 608481 |
| HGNC ID | 14464 |
| Aliases | SLC26A9, solute carrier family 26 (anion exchanger), member 9 |
Description
SLC26A9 encodes a member of the SLC26 family of anion transporters. The protein functions as a chloride/bicarbonate exchanger and also exhibits chloride channel activity. It is highly expressed in lung, stomach, and testis, and plays a role in airway surface liquid homeostasis, gastric acid secretion, and sperm motility. Variants in SLC26A9 are associated with bronchiectasis, male infertility, and modify cystic fibrosis lung disease severity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bronchiectasis | Loss-of-function variants impair chloride transport, leading to defective mucociliary clearance and chronic airway infection. | PMID: 23972370, ClinVar |
| Cystic fibrosis modifier | SLC26A9 variants influence CFTR-dependent chloride secretion and disease severity. | PMID: 23972370, OMIM 608481 |
| Male infertility | Defective anion transport in sperm flagella affects motility. | PMID: 23972370, OMIM 608481 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Stomach | 10.2 | Medium |
| Testis | 8.9 | Medium |
| Trachea | 7.3 | Low |
| Thyroid | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.3 | High expression |
| Caco-2 (colorectal) | 9.8 | Medium expression |
| HepG2 (hepatocellular) | 4.2 | Low expression |
| MCF7 (breast) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1300C>T (p.Arg434*) | Nonsense | <0.01% | Loss of function; associated with bronchiectasis |
| c.2027G>A (p.Gly676Asp) | Missense | <0.01% | Reduced chloride transport; CF modifier |
| c.256G>A (p.Gly86Arg) | Missense | <0.01% | Impaired trafficking; male infertility |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants (e.g., p.Arg434*) lead to truncated protein and loss of anion transport activity.
Gain of Function (GOF)
Not reported in SLC26A9.
Dominant Negative (DN)
Not reported in SLC26A9.
View complete mutation data：
Gene Ontology (GO)
| • chloride channel activity (GO:0005254) | • chloride transmembrane transporter activity (GO:0015108) |
| • antiporter activity (GO:0015297) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • ion transport (GO:0006811) |
| • chloride transport (GO:0006821) | • bicarbonate transport (GO:0015701) |
Pathways
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
• Transport of inorganic cations/anions (Reactome: R-HSA-425393)
• CFTR-dependent bicarbonate transport (Reactome: R-HSA-562708)
Protein Summary
SLC26A9 is a 791-amino acid multi-pass membrane protein with 14 transmembrane domains. It functions as a chloride/bicarbonate exchanger and a chloride channel. The protein is localized to the apical plasma membrane in epithelial cells of the lung, stomach, and testis. It interacts with CFTR and regulates airway surface liquid pH and volume. Mutations that disrupt its transport activity lead to impaired mucociliary clearance, bronchiectasis, and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC26A9 Knockout HEK293 Cell Line | EDJ-KQ6850 | Human | 115019 | Details Get a Quote |
| SLC26A9 Knockout HeLa Cell Line | EDJ-KQ57946 | Human | 115019 | Details Get a Quote |
| SLC26A9 Knockout A-549 Cell Line | EDJ-KQ66436 | Human | 115019 | Details Get a Quote |
| SLC26A9 Knockout HCT 116 Cell Line | EDJ-KQ74861 | Human | 115019 | Details Get a Quote |
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