SLC4A5: Sodium Bicarbonate Cotransporter 3 (NBCe2)
Solute Carrier Family 4 Member 5 – Ion Transport and Genetic Variants
Gene Information Card
| Symbol | SLC4A5 |
|---|---|
| Full Name | Solute Carrier Family 4 Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 57835 ncbi.nlm.nih.gov/gene/57835 |
| Ensembl ID | ENSG00000115594 |
| UniProt ID | Q9BY07 |
| OMIM ID | 606757 |
| HGNC ID | 11027 |
| Aliases | NBCe2, NBC4, SLC4A5, hhNBC |
Description
SLC4A5 (Solute Carrier Family 4 Member 5) encodes the electrogenic sodium bicarbonate cotransporter NBCe2, which mediates the coupled movement of Na+ and HCO3- across the plasma membrane. This protein is essential for acid-base homeostasis and ion transport in kidney, liver, and other tissues. Variants in SLC4A5 have been associated with renal tubular acidosis, hypertension, and other electrolyte disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal tubular acidosis (proximal) | Impaired bicarbonate reabsorption due to defective NBCe2 function | ClinVar, OMIM |
| Essential hypertension | Altered renal sodium handling and blood pressure regulation | OMIM, PubMed |
| Bicarbonate transport defect | Loss of electrogenic Na+/HCO3- cotransport activity | UniProt, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.7 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in transfected cells |
| HepG2 | 9.8 | Moderate expression |
| HK-2 | 11.4 | Renal proximal tubule model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Reduced bicarbonate transport activity |
| c.1465G>A (p.Glu489Lys) | Missense | <0.01% | Altered ion selectivity |
| c.2234delC | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
p.Arg358Trp and c.2234delC reduce or abolish NBCe2 transport activity.
Gain of Function (GOF)
Not reported for SLC4A5.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • symporter activity (GO:0015293) | • bicarbonate transport (GO:0015701) |
| • sodium ion transport (GO:0006814) | • plasma membrane (GO:0005886) |
| • apical plasma membrane (GO:0016324) |
Pathways
• Bicarbonate transport (Reactome: R-HSA-425393)
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
Protein Summary
NBCe2 (UniProt Q9BY07) is a 1,124-amino acid multi-pass membrane protein with 12-14 transmembrane domains. It functions as an electrogenic Na+/HCO3- cotransporter with a stoichiometry of 1 Na+ : 3 HCO3-. The protein is expressed predominantly in kidney proximal tubules and liver, where it mediates basolateral bicarbonate efflux. Mutations affecting its transport activity can disrupt acid-base balance and contribute to renal and cardiovascular disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC4A5 Knockout HEK293 Cell Line | EDJ-KQ15278 | Human | 57835 | Details Get a Quote |
| SLC4A5 Knockout HeLa Cell Line | EDJ-KQ56927 | Human | 57835 | Details Get a Quote |
| SLC4A5 Knockout A-549 Cell Line | EDJ-KQ65432 | Human | 57835 | Details Get a Quote |
| SLC4A5 Knockout HCT 116 Cell Line | EDJ-KQ73870 | Human | 57835 | Details Get a Quote |
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