SLC4A9: Solute Carrier Family 4 Member 9
Anion exchanger involved in bicarbonate transport and pH regulation
Gene Information Card
| Symbol | SLC4A9 |
|---|---|
| Full Name | Solute Carrier Family 4 Member 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 100131187 ncbi.nlm.nih.gov/gene/100131187 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q96Q91 |
| OMIM ID | 611034 |
| HGNC ID | 1103 |
| Aliases | AE9, SLC4A9, anion exchanger 9 |
Description
SLC4A9 (Solute Carrier Family 4 Member 9) encodes an anion exchanger protein (AE9) that mediates electroneutral exchange of chloride and bicarbonate across plasma membranes, contributing to intracellular pH regulation and bicarbonate transport. The gene is located on chromosome 5q31.3 and is primarily expressed in kidney and gastrointestinal tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal tubular acidosis | Impaired bicarbonate transport due to SLC4A9 dysfunction | ClinVar, OMIM |
| Nephrolithiasis | Altered pH homeostasis leading to stone formation | ClinVar |
| Hypertension | Potential role in blood pressure regulation via bicarbonate handling | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Small intestine | 8.3 | Medium |
| Colon | 6.7 | Low |
| Pancreas | 4.2 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| Caco-2 | 10.2 | Intestinal epithelial model |
| HK-2 | 18.5 | Kidney proximal tubule cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.001% | Reduced bicarbonate transport activity |
| c.567delG (p.Gly189Valfs*12) | Frameshift | <0.001% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.002% | Altered pH sensitivity |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing anion exchange activity.
Gain of Function (GOF)
Not reported for SLC4A9.
Dominant Negative (DN)
Missense mutations that disrupt dimerization or transport function, potentially interfering with wild-type protein.
View complete mutation data：
Gene Ontology (GO)
| • inorganic anion exchanger activity (GO:0005452) | • bicarbonate transport (GO:0015701) |
| • plasma membrane (GO:0005886) | • transmembrane transport (GO:0055085) |
| • anion transport (GO:0006820) |
Pathways
• Bicarbonate transport (Reactome: R-HSA-425393)
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
Protein Summary
The SLC4A9 protein (AE9) is a transmembrane anion exchanger belonging to the SLC4 family. It consists of 12 transmembrane domains and mediates electroneutral Cl-/HCO3- exchange. Expressed predominantly in kidney and intestine, it plays a critical role in acid-base homeostasis. Mutations can lead to renal tubular acidosis and nephrolithiasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC4A9 Knockout HEK293 Cell Line | EDJ-KQ9892 | Human | 83697 | Details Get a Quote |
| SLC4A9 Knockout HeLa Cell Line | EDJ-KQ57466 | Human | 83697 | Details Get a Quote |
| SLC4A9 Knockout A-549 Cell Line | EDJ-KQ65970 | Human | 83697 | Details Get a Quote |
| SLC4A9 Knockout HCT 116 Cell Line | EDJ-KQ74393 | Human | 83697 | Details Get a Quote |
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