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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SLC9A4
solute carrier family 9 member A4
Chromosome 2 · 2q12.1
NCBI Gene: 389015Ensembl: ENSG00000180251.5HGNC: HGNC:11077UniProt: Q6AI14
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sodium:proton antiporter activitypotassium ion transmembrane transportsodium ion import across plasma membranepotassium:proton antiporter activityasthmaAscending aortic dissectioninflammatory bowel diseaseCrohn's disease
✦AI Summary

SLC9A4 encodes NHE4, a basolateral electroneutral antiporter that exchanges sodium for protons or ammonium ions, regulating intracellular pH and cell volume in epithelial tissues 1. In renal medullary thick ascending limb cells, SLC9A4 mediates basolateral ammonium extrusion and is critical for establishing the corticopapillary ammonia gradient required for renal acid excretion 1. Disruption of murine NHE4 causes metabolic acidosis with impaired ammonia absorption, though additional transporters contribute to this process 1. Beyond renal function, SLC9A4 functions as a sodium sensor in osmotic regulation and regulates gastric acid secretion in parietal cells. Genetically, SLC9A4 variants associate with multiple inflammatory and metabolic conditions. Rare exonic variants linked to eczema susceptibility are found in conserved functional domains 2. SLC9A4 shows pleiotropy with antihypertensive-induced new-onset diabetes, Crohn's disease, and inflammatory bowel disease 3. Variants associate with obstructive sleep apnea independent of BMI effects 4, and differential associations with non-obese versus obese asthma in African Americans 5. SLC9A4 expression is significantly reduced in type 2 diabetic neutrophils 6, suggesting involvement in diabetic inflammatory complications. These findings identify SLC9A4 as a pleiotropic locus relevant to multiple disease pathways.

Sources cited
1
SLC9A4 (NHE4) encodes a sodium/ammonia exchanger mediating basolateral ammonia extrusion in renal thick ascending limb and building the corticopapillary ammonia gradient
PMID: 22088435
2
Rare exonic variants in SLC9A4 are associated with eczema susceptibility and located in conserved functional protein domains
PMID: 34785669
3
SLC9A4 locus shows pleiotropy between antihypertensive-induced new-onset diabetes, Crohn's disease, and inflammatory bowel disease
PMID: 33769074
4
SLC9A4 variants associate with obstructive sleep apnea through BMI-independent mechanisms
PMID: 38330144
5
SLC9A4 shows differential association with non-obese asthma but not obese asthma in African Americans
PMID: 35524249
6
SLC9A4 expression is significantly decreased in type 2 diabetic neutrophils compared to healthy controls
PMID: 34134627
Disease Associationsⓘ20
asthmaOpen Targets
0.48Moderate
Ascending aortic dissectionOpen Targets
0.47Moderate
inflammatory bowel diseaseOpen Targets
0.42Moderate
Crohn's diseaseOpen Targets
0.39Weak
atopic eczemaOpen Targets
0.38Weak
obstructive sleep apneaOpen Targets
0.37Weak
sleep apneaOpen Targets
0.31Weak
Sleep DisorderOpen Targets
0.30Weak
chronic rhinosinusitisOpen Targets
0.29Weak
leprosyOpen Targets
0.28Weak
actinic keratosisOpen Targets
0.27Weak
ulcerative colitisOpen Targets
0.23Weak
lichen planusOpen Targets
0.17Weak
celiac diseaseOpen Targets
0.16Weak
dermatitisOpen Targets
0.15Weak
Nasal Cavity PolypOpen Targets
0.09Suggestive
systemic lupus erythematosusOpen Targets
0.09Suggestive
extranodal nasal NK/T cell lymphomaOpen Targets
0.08Suggestive
seborrheic keratosisOpen Targets
0.08Suggestive
Eczematoid dermatitisOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC9A2Shared pathway82%SLC9A7Shared pathway82%SLC9A5Shared pathway80%SLC9A9Shared pathway75%SLC9A3Shared pathway73%SLC9A1Protein interaction67%
Tissue Expression6 tissues
Ovary
100%
Liver
74%
Lung
61%
Brain
54%
Bone Marrow
24%
Heart
0%
Gene Interaction Network
Click a node to explore
SLC9A4SLC9A2SLC9A7SLC9A5SLC9A9SLC9A3SLC9A1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6AI14
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.69–1.06]
RankingsWhere SLC9A4 stands among ~20K protein-coding genes
  • #15,998of 20,598
    Most Researched14
  • #10,713of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedSLC9A4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.
PMID: 34785669
Nat Commun · 2021
1.00
2
Integrating disease and drug-related phenotypes for improved identification of pharmacogenomic variants.
PMID: 33769074
Pharmacogenomics · 2021
0.90
3
Novel genetic risk variants for pediatric celiac disease.
PMID: 27836013
Hum Genomics · 2016
0.80
4
Potential Immune Biomarker Candidates and Immune Subtypes of Lung Adenocarcinoma for Developing mRNA Vaccines.
PMID: 34917077
Front Immunol · 2021
0.70
5
Transcriptomics of type 2 diabetic and healthy human neutrophils.
PMID: 34134627
BMC Immunol · 2021
0.60