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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SLC4A5
solute carrier family 4 member 5
Chromosome 2 · 2p13.1
NCBI Gene: 57835Ensembl: ENSG00000188687.19HGNC: HGNC:18168UniProt: Q9BY07
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sodium:bicarbonate symporter activityapical plasma membranetransmembrane transportrenal system processneurodegenerative diseaseHypercholesterolemiaAbruptio Placentaeretinitis pigmentosa
✦AI Summary

SLC4A5 encodes NBCe2, an electrogenic sodium bicarbonate cotransporter that mediates Na(+):HCO3(-) cotransport with a 1:2 or 1:3 stoichiometry 1. The protein is primarily expressed in renal tissue, including the collecting duct and proximal tubules, where it contributes to bicarbonate reabsorption and intracellular pH regulation 23. Under high-salt conditions, NBCe2 shows increased apical membrane expression in human renal proximal tubule cells, facilitating enhanced sodium and bicarbonate transport 43. Mechanistically, NBCe2 activity is stimulated by increases in intracellular sodium, with certain genetic variants showing hyperresponsive behavior through HNF4A-mediated mechanisms 4. Disease relevance includes hypertension susceptibility, as SLC4A5 variants are associated with increased blood pressure and salt sensitivity across multiple populations 256. Targeted mutation of Slc4a5 in mice causes persistent hypertension and metabolic acidosis, likely through impaired sodium-sparing bicarbonate reabsorption that triggers compensatory mechanisms involving increased sodium uptake 2. Additionally, SLC4A5 mutations have been linked to retinal pathology and identified as potential modifiers of neurological disease severity 78.

Sources cited
1
SLC4A5 encodes NBCe2, an electrogenic sodium bicarbonate cotransporter with 1:2 or 1:3 Na+:HCO3- stoichiometry
PMID: 25428855
2
NBCe2 is expressed in kidney collecting duct and targeted mutation causes hypertension and metabolic acidosis
PMID: 22082831
3
NBCe2 protein is expressed in human renal proximal tubules with increased apical expression under high-salt conditions
PMID: 26447209
4
SLC4A5 variants increase sodium and bicarbonate transport in human renal proximal tubule cells through HNF4A-mediated mechanisms
PMID: 29642240
5
SLC4A5 variants are associated with cardiovascular phenotypes including pulse pressure and blood pressure
PMID: 19384345
6
SLC4A5 polymorphisms interact with environmental factors to affect blood pressure in African American women
PMID: 22764636
7
SLC4A5 mutations are linked to retinal pathology including subretinal fluid accumulation
PMID: 35216333
8
SLC4A5 variants identified as potential modifiers of neurological disease severity
PMID: 40504793
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.36Weak
Abruptio PlacentaeOpen Targets
0.09Suggestive
HypercholesterolemiaOpen Targets
0.09Suggestive
retinitis pigmentosaOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.07Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
Cone rod dystrophyOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
Familial drusenOpen Targets
0.06Suggestive
focal segmental glomerulosclerosisOpen Targets
0.06Suggestive
X-linked retinoschisisOpen Targets
0.06Suggestive
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.06Suggestive
Stargardt diseaseOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Sorsby's fundus dystrophyOpen Targets
0.05Suggestive
Progressive cone dystrophyOpen Targets
0.05Suggestive
nephrotic syndromeOpen Targets
0.05Suggestive
IGA glomerulonephritisOpen Targets
0.05Suggestive
familial hyperaldosteronism type IIIOpen Targets
0.05Suggestive
primary Fanconi syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ALMS1Protein interaction83%DCTN1Protein interaction78%SLC4A9Shared pathway63%SLC4A10Shared pathway60%SLC4A7Shared pathway42%SLC4A4Shared pathway42%
Tissue Expression6 tissues
Ovary
100%
Brain
96%
Lung
91%
Bone Marrow
72%
Heart
46%
Liver
38%
Gene Interaction Network
Click a node to explore
SLC4A5ALMS1DCTN1SLC4A9SLC4A10SLC4A7SLC4A4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BY07
View on AlphaFold ↗
RankingsWhere SLC4A5 stands among ~20K protein-coding genes
  • #12,676of 20,598
    Most Researched27
Genes detectedSLC4A5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cation-coupled bicarbonate transporters.
PMID: 25428855
Compr Physiol · 2014
1.00
2
Sodium bicarbonate cotransporter NBCe2 gene variants increase sodium and bicarbonate transport in human renal proximal tubule cells.
PMID: 29642240
PLoS One · 2018
0.90
3
Genomic modifiers of neurological resilience in a Niemann-Pick C family.
PMID: 40504793
FEBS Lett · 2025
0.80
4
Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study.
PMID: 19384345
Eur J Hum Genet · 2009
0.70
5
Gene-environment effects of SLC4A5 and skin color on blood pressure among African American women.
PMID: 22764636
Ethn Dis · 2012
0.60