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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SLC9A8
solute carrier family 9 member A8
Chromosome 20 · 20q13.13
NCBI Gene: 23315Ensembl: ENSG00000197818.13HGNC: HGNC:20728UniProt: B4DIX7
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsodium:proton antiporter activitypotassium:proton antiporter activitysodium ion transmembrane transportsubstance-related disorderpsoriasisulcerative colitisCrohn's disease
✦AI Summary

SLC9A8 encodes NHE8, a Na+/H+ antiporter mediating electroneutral exchange of intracellular H+ for extracellular Na+ in 1:1 stoichiometry 1. Primary functions include regulating intracellular pH and Golgi apparatus pH, thereby controlling protein trafficking and endosomal morphology 23. In the intestinal epithelium, SLC9A8 plays a major physiological role in transepithelial Na+ absorption and maintains mucosal integrity 4. In retinal pigment epithelium, it regulates endosomal volume and pH essential for photoreceptor support 5. SLC9A8 dysfunction contributes to multiple diseases. Vitamin D/VDR-mediated upregulation of NHE8 protects against ulcerative colitis; compromised NHE8 expression exacerbates colitis through TNF-α/NF-κB pathway activation 6. In colorectal cancer, SLC9A8 downregulation promotes epithelial-mesenchymal transition and metastasis via IL6-JAK1/STAT3 signaling, with reduced expression associated with poor prognosis 7. SLC9A8 variants influence intestinal microbiota composition 8 and have been associated with inflammatory bowel disease susceptibility as part of a diagnostic blood transcriptomic panel achieving 99% accuracy 9. Recently, SLC9A8 variants were identified in frontotemporal dementia and amyotrophic lateral sclerosis genetic associations 10. Dietary factors including myricetin positively correlate with SLC9A8 expression 11.

Sources cited
1
SLC9A8 mediates electroneutral Na+/H+ exchange and regulates Golgi pH for protein trafficking
PMID: 15522866
2
SLC9A8 role in Golgi pH regulation and endosomal morphology
PMID: 20719963
3
SLC9A8 essential role in intestinal epithelial Na+ absorption and mucosal integrity
PMID: 34288721
4
SLC9A8 required in retinal pigment epithelium for endosomal regulation and photoreceptor support
PMID: 25736793
5
Vitamin D/VDR upregulates NHE8 to protect against colitis; compromised NHE8 via TNF-α/NF-κB worsens disease
PMID: 38004229
6
SLC9A8 downregulation promotes colorectal cancer EMT and metastasis via IL6-JAK1/STAT3 pathway
PMID: 36583805
7
SLC9A8 variants influence intestinal microbiota β diversity
PMID: 28816579
8
SLC9A8 is part of a three-gene blood biomarker panel for IBD diagnosis with 99% accuracy
PMID: 40621466
9
SLC9A8 variants associated with frontotemporal dementia and ALS
PMID: 37979250
10
Myricetin positively correlates with SLC9A8 expression in blood
PMID: 36771351
11
SLC9A8 is one of eight mammalian Na+/H+ exchanger genes with roles in pH homeostasis and disease
PMID: 12845533
Disease Associationsⓘ20
substance-related disorderOpen Targets
0.37Weak
psoriasisOpen Targets
0.35Weak
ulcerative colitisOpen Targets
0.34Weak
Crohn's diseaseOpen Targets
0.34Weak
sclerosing cholangitisOpen Targets
0.33Weak
ankylosing spondylitisOpen Targets
0.33Weak
actinic keratosisOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.26Weak
amyotrophic lateral sclerosisOpen Targets
0.26Weak
multinodular goiterOpen Targets
0.23Weak
spondylolisthesisOpen Targets
0.20Weak
azoospermiaOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.10Suggestive
inflammatory bowel diseaseOpen Targets
0.10Suggestive
colitisOpen Targets
0.08Suggestive
retinitis pigmentosaOpen Targets
0.08Suggestive
spermatogenic failure 85Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 7Open Targets
0.07Suggestive
spermatogenic failure 78Open Targets
0.07Suggestive
spermatogenic failure 91Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC9A7Shared pathway82%RACK1Protein interaction74%SLC9A2Shared pathway67%SLC9A4Shared pathway67%SLC9A5Shared pathway64%SLC9A9Shared pathway62%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
81%
Lung
79%
Ovary
40%
Heart
35%
Brain
29%
Gene Interaction Network
Click a node to explore
SLC9A8SLC9A7RACK1SLC9A2SLC9A4SLC9A5SLC9A9
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y2E8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.56–1.01]
RankingsWhere SLC9A8 stands among ~20K protein-coding genes
  • #11,244of 20,598
    Most Researched34
  • #9,832of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedSLC9A8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Compromised NHE8 Expression Is Responsible for Vitamin D-Deficiency Induced Intestinal Barrier Dysfunction.
PMID: 38004229
Nutrients · 2023
1.00
2
Downregulation of SLC9A8 Promotes Epithelial-Mesenchymal Transition and Metastasis in Colorectal Cancer Cells via the IL6-JAK1/STAT3 Signaling Pathway.
PMID: 36583805
Dig Dis Sci · 2023
0.90
3
Dietary Responses of Dementia-Related Genes Encoding Metabolic Enzymes.
PMID: 36771351
Nutrients · 2023
0.80
4
Biomarker discovery for non-invasive diagnosis of inflammatory bowel disease using blood transcriptomics.
PMID: 40621466
Front Immunol · 2025
0.70
5
Mouse slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunction.
PMID: 25736793
Invest Ophthalmol Vis Sci · 2015
0.60