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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SLC9A5
solute carrier family 9 member A5
Chromosome 16 Β· 16q22.1
NCBI Gene: 6553Ensembl: ENSG00000135740.18HGNC: HGNC:11078UniProt: Q14940
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membraneprotein bindingsodium:proton antiporter activityrecycling endosome membraneneurodegenerative diseaseBlackfan-Diamond anemiahereditary persistence of fetal hemoglobin-sickle cell disease syndromeHereditary persistence of fetal hemoglobin - beta-thalassemia
✦AI Summary

SLC9A5 (NHE5) is a plasma membrane Na+/H+ antiporter that mediates electroneutral exchange of intracellular H+ for extracellular Na+ in 1:1 stoichiometry, primarily regulating intracellular pH homeostasis in neural tissues 1. The gene is expressed in brain, testis, spleen, and skeletal muscle 1. Beyond pH regulation, SLC9A5 acts as a negative regulator of dendritic spine growth and participates in postsynaptic remodeling and signaling [UniProt]. It also contributes to organellar pH regulation with consequences for receptor tyrosine kinase trafficking. Clinically, SLC9A5 demonstrates oncogenic properties in colorectal cancer (CRC), where it is significantly upregulated in tumor tissues compared to adjacent normal tissue 2. SLC9A5 knockdown suppresses CRC cell proliferation, migration, and invasion, with mechanistic involvement in peroxisomal fatty acid oxidation pathways via ACOX1 regulation 2. In melanoma, SLC9A5 upregulation contributes to BRAF inhibitor resistance and promotes a mesenchymal-like phenotype associated with therapy resistance 3. Conversely, SLC9A5 expression is downregulated in loperamide-induced constipation, suggesting a role in colonic epithelial function 4. These findings position SLC9A5 as a therapeutic target in cancer and potentially relevant to gastrointestinal disorders.

Sources cited
1
SLC9A5 cloning, chromosomal localization to 16q22.1, tissue expression pattern in brain, testis, spleen, and skeletal muscle
PMID: 7759094
2
SLC9A5 upregulation in colorectal cancer promotes tumor growth and cell motility via ACOX1-mediated peroxisomal fatty acid oxidation
PMID: 37380010
3
SLC9A5 identified as tumor-promoting gene conferring melanoma cell plasticity and BRAF inhibitor resistance
PMID: 33724679
4
SLC9A5 downregulation occurs in loperamide-induced constipation in rat distal colon
PMID: 26151867
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.45Moderate
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
delta-beta-thalassemiaOpen Targets
0.06Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
alpha thalassemia spectrumOpen Targets
0.05Suggestive
Alpha-thalassemiaOpen Targets
0.05Suggestive
beta thalassemiaOpen Targets
0.05Suggestive
Beta-thalassemiaOpen Targets
0.05Suggestive
beta-thalassemia HBB/LCRBOpen Targets
0.05Suggestive
hemolytic anemia due to adenylate kinase deficiencyOpen Targets
0.05Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
SLC9A3Shared pathway89%SLC9A2Shared pathway80%SLC9A7Shared pathway80%SLC9A4Shared pathway80%SLC9A9Shared pathway73%SLC9B2Protein interaction70%
Tissue Expression6 tissues
Ovary
100%
Lung
94%
Heart
48%
Brain
44%
Bone Marrow
29%
Liver
15%
Gene Interaction Network
Click a node to explore
SLC9A5SLC9A3SLC9A2SLC9A7SLC9A4SLC9A9SLC9B2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q14940
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.72LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.58 [0.46–0.72]
RankingsWhere SLC9A5 stands among ~20K protein-coding genes
  • #13,524of 20,598
    Most Researched23
  • #5,619of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedSLC9A5
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Molecular cloning and physical and genetic mapping of a novel human Na+/H+ exchanger (NHE5/SLC9A5) to chromosome 16q22.1.
PMID: 7759094
Genomics Β· 1995
1.00
2
SLC9A5 promotes tumor growth and cell motility via ACOX1-mediated peroxisomal fatty acid oxidation.
PMID: 37380010
Exp Cell Res Β· 2023
0.75
3
CRISPR screens identify tumor-promoting genes conferring melanoma cell plasticity and resistance.
PMID: 33724679
EMBO Mol Med Β· 2021
0.50
4
Characterization of Changes in Global Genes Expression in the Distal Colon of Loperamide-Induced Constipation SD Rats in Response to the Laxative Effects of Liriope platyphylla.
PMID: 26151867
PLoS One Β· 2015
0.25