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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SLC4A9
solute carrier family 4 member 9
Chromosome 5 · 5q31.3
NCBI Gene: 83697Ensembl: ENSG00000113073.16HGNC: HGNC:11035UniProt: Q96Q91
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of intracellular pHtransmembrane transportsodium:bicarbonate symporter activitybicarbonate transportnephrotic syndromefocal segmental glomerulosclerosisfamilial idiopathic steroid-resistant nephrotic syndromeBalkan nephropathy
✦AI Summary

SLC4A9 encodes an electroneutral chloride/bicarbonate antiporter located on chromosome 5 1. The protein mediates Cl⁻/HCO₃⁻ exchange coupled with monovalent cations (Na⁺, K⁺, Cs⁺, Li⁺, Rb⁺) across the basolateral membrane 2. In the kidney, AE4 (the SLC4A9 protein product) functions as a critical acid-base sensor in intercalated cells, enabling appropriate physiological responses to metabolic acidosis and alkalosis by regulating pendrin-mediated base secretion 3. SLC4A9 expression is predominantly restricted to the kidney and increases under hypoxic conditions in cancer cells 1, 4. In adenocarcinoma and glioma models, SLC4A9 disruption acidifies intracellular pH and suppresses tumor growth, suggesting therapeutic potential 4. Recent genome-wide association studies identified SLC4A9 as a candidate Alzheimer disease risk gene; experimental rescue of SLC4A9 expression proved neuroprotective in Drosophila AD models, with potential implications for tau pathology 5. DNA methylation changes at SLC4A9 show association with all-cause mortality in cardiovascular patients 6. SLC4A9 likely participates in broader pH homeostasis networks alongside other SLC4 family members 7.

Sources cited
1
SLC4A9 is an electroneutral Cl⁻/HCO₃⁻ exchanger that mediates ion transport dependent on monovalent cations including Na⁺, K⁺, and other alkali metal ions
PMID: 27114614
2
AE4/SLC4A9 is essential for kidney acid-base sensing in intercalated cells and regulates responses to metabolic alkalosis and acidosis
PMID: 37236964
3
SLC4A9 is a novel sodium bicarbonate cotransporter-like gene on chromosome 5q31 with expression largely restricted to kidney
PMID: 11305939
4
SLC4A9 is a candidate Alzheimer disease risk gene identified through GWAS; reversing its aberrant downregulation proved neuroprotective in fly AD models
PMID: 40215969
5
SLC4A9 expression is induced by hypoxia in cancer cells; disruption of SLC4A9 acidifies intracellular pH and suppresses tumor growth
PMID: 27197160
6
SLC4A9 DNA methylation is associated with all-cause mortality in cardiovascular patients
PMID: 31642367
7
SLC4A9 (AE4) is a member of the SLC4 family of bicarbonate transporters with established roles in acid-base homeostasis
PMID: 23506864
Disease Associationsⓘ20
nephrotic syndromeOpen Targets
0.08Suggestive
focal segmental glomerulosclerosisOpen Targets
0.08Suggestive
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.07Suggestive
Balkan nephropathyOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
nephronophthisisOpen Targets
0.06Suggestive
nephrotic syndrome, IIa 26Open Targets
0.06Suggestive
nephrotic syndrome, type 24Open Targets
0.05Suggestive
congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunizationOpen Targets
0.05Suggestive
focal segmental glomerulosclerosis 9Open Targets
0.05Suggestive
nephrotic syndrome, type 20Open Targets
0.05Suggestive
lipoprotein glomerulopathyOpen Targets
0.05Suggestive
familial juvenile hyperuricemic nephropathy type 1Open Targets
0.05Suggestive
nephrotic syndrome 16Open Targets
0.05Suggestive
focal segmental glomerulosclerosis 7Open Targets
0.05Suggestive
sporadic idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.05Suggestive
nephrotic syndrome, type 4Open Targets
0.05Suggestive
glomerulopathy with fibronectin deposits 2Open Targets
0.05Suggestive
nephrotic syndrome, type 12Open Targets
0.05Suggestive
proteinuria, chronic benignOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ANKHD1Protein interaction72%SLC4A5Shared pathway63%SLC4A1Shared pathway57%SLC4A3Shared pathway56%SLC4A10Shared pathway50%SLC4A8Shared pathway45%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
100%
Lung
58%
Heart
47%
Liver
21%
Ovary
11%
Gene Interaction Network
Click a node to explore
SLC4A9ANKHD1SLC4A5SLC4A1SLC4A3SLC4A10SLC4A8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96Q91
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.86–1.20]
RankingsWhere SLC4A9 stands among ~20K protein-coding genes
  • #18,208of 20,598
    Most Researched6
  • #12,647of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedSLC4A9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Computational and functional prioritization identifies genes that rescue behavior and reduce tau protein in fly and human cell models of Alzheimer disease.
PMID: 40215969
Am J Hum Genet · 2025
1.00
2
Ae4 (Slc4a9) is an electroneutral monovalent cation-dependent Cl-/HCO3- exchanger.
PMID: 27114614
J Gen Physiol · 2016
0.90
3
The AE4 transporter mediates kidney acid-base sensing.
PMID: 37236964
Nat Commun · 2023
0.80
4
A novel sodium bicarbonate cotransporter-like gene in an ancient duplicated region: SLC4A9 at 5q31.
PMID: 11305939
Genome Biol · 2001
0.70
5
Epigenome-Wide Association Study for All-Cause Mortality in a Cardiovascular Cohort Identifies Differential Methylation in Castor Zinc Finger 1 (
PMID: 31642367
J Am Heart Assoc · 2019
0.60