SLC9A5: Solute Carrier Family 9 Member A5
Sodium/Hydrogen Exchanger 5 (NHE5) – Gene, Function, and Clinical Relevance
Gene Information Card
| Symbol | SLC9A5 |
|---|---|
| Full Name | Solute Carrier Family 9 Member A5 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000135740 |
| UniProt ID | Q14940 |
| OMIM ID | 600477 |
| HGNC ID | 11077 |
| Aliases | NHE5 |
Description
SLC9A5 (solute carrier family 9 member A5) encodes the sodium/hydrogen exchanger 5 (NHE5), a transmembrane protein that mediates electroneutral exchange of Na+ for H+ across the plasma membrane. NHE5 is involved in intracellular pH regulation, cell volume control, and ion homeostasis. It is predominantly expressed in brain and testis, with lower levels in other tissues. Dysregulation of SLC9A5 has been implicated in neurological disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy | Altered pH homeostasis in neurons may contribute to hyperexcitability | PMID: 23407963 |
| Glioblastoma | Overexpression of NHE5 promotes tumor cell migration and invasion | PMID: 25605248 |
| Breast cancer | NHE5 expression correlates with poor prognosis and metastasis | PMID: 27562873 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Medium |
| Kidney | 2.1 | Low |
| Lung | 1.5 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| U87MG (glioblastoma) | 18.6 | High expression |
| MCF7 (breast cancer) | 6.4 | Moderate expression |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional effect |
| c.567_569del (p.Glu189del) | In-frame deletion | <0.01% | Potential loss of function |
| c.2101G>A (p.Val701Met) | Missense | 0.02% | Benign (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
In-frame deletions and nonsense variants predicted to disrupt transmembrane domains may reduce Na+/H+ exchange activity.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not described for SLC9A5.
View complete mutation data：
Gene Ontology (GO)
| • sodium:proton antiporter activity (GO:0015385) | • plasma membrane (GO:0005886) |
| • regulation of pH (GO:0006885) | • regulation of intracellular pH (GO:0051453) |
| • cell growth (GO:0016049) |
Pathways
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
• Transport of small molecules (Reactome: R-HSA-382551)
Protein Summary
NHE5 is a 798-amino acid integral membrane protein with 12 predicted transmembrane helices. It functions as an electroneutral Na+/H+ antiporter, exchanging extracellular Na+ for intracellular H+. NHE5 is regulated by phosphorylation and interactions with accessory proteins. Its activity is critical for pH homeostasis in neurons and may influence cell proliferation and migration in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC9A5 Knockout HEK293 Cell Line | EDJ-KQ3166 | Human | 6553 | Details Get a Quote |
| SLC9A5 Knockout A-549 Cell Line | EDJ-KQ24579 | Human | 6553 | Details Get a Quote |
| SLC9A5 Knockout HCT 116 Cell Line | EDJ-KQ24580 | Human | 6553 | Details Get a Quote |
| SLC9A5 Knockout HeLa Cell Line | EDJ-KQ54502 | Human | 6553 | Details Get a Quote |
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