SLC9B1: Solute Carrier Family 9 Member B1
A sodium/hydrogen exchanger with roles in pH regulation and potential links to disease
Gene Information Card
| Symbol | SLC9B1 |
|---|---|
| Full Name | Solute Carrier Family 9 Member B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 150159 ncbi.nlm.nih.gov/gene/150159 |
| Ensembl ID | ENSG00000164050 |
| UniProt ID | Q86UD5 |
| OMIM ID | 611207 |
| HGNC ID | 20611 |
| Aliases | NHA2, NHEDC2, SLC9B1 |
Description
SLC9B1 (Solute Carrier Family 9 Member B1) encodes a sodium/hydrogen exchanger (NHE) known as NHA2. This protein is involved in the electroneutral exchange of Na+ for H+ across cellular membranes, playing a role in intracellular pH homeostasis, sodium transport, and possibly in renal and bone physiology. The gene is located on chromosome 4q24 and is expressed in various tissues, with notable levels in kidney and bone.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Potential role in sodium reabsorption in the kidney; altered NHA2 activity may affect blood pressure regulation. | Limited; animal models and association studies suggest a link, but direct human evidence is not yet robust. |
| Nephrolithiasis (kidney stones) | NHA2 may influence urinary pH and calcium excretion, contributing to stone formation. | Preliminary; based on expression in kidney and functional studies. |
| Osteoporosis | NHA2 is expressed in osteoclasts and may affect bone resorption via pH regulation. | In vitro and animal model evidence; human studies are lacking. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lung | 6.1 | Low |
| Testis | 5.4 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in transfected cells |
| A549 | 7.8 | Moderate expression |
| HepG2 | 4.5 | Low expression |
| K562 | 2.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown; predicted to be benign by in silico tools |
| c.457G>A (p.Val153Ile) | Missense | <0.01% | Unknown; no functional studies available |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for SLC9B1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • solute:proton antiporter activity (GO:0015299) | • sodium ion transport (GO:0006814) |
| • regulation of pH (GO:0006885) | • membrane (GO:0016020) |
| • plasma membrane (GO:0005886) |
Pathways
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
The SLC9B1 protein (NHA2) is a 537-amino acid sodium/hydrogen exchanger with 10-12 predicted transmembrane domains. It functions as a monomer or dimer, exchanging extracellular Na+ for intracellular H+ to regulate pH and sodium homeostasis. NHA2 is localized to the plasma membrane and endosomes, with highest expression in kidney and bone. Its activity is inhibited by amiloride and its analogs. The protein is implicated in renal sodium handling and osteoclast function, but its exact physiological roles and disease associations remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC9B1 Knockout HEK293 Cell Line | EDJ-KQ11258 | Human | 150159 | Details Get a Quote |
| SLC9B1 Knockout HeLa Cell Line | EDJ-KQ58648 | Human | 150159 | Details Get a Quote |
| SLC9B1 Knockout A-549 Cell Line | EDJ-KQ67130 | Human | 150159 | Details Get a Quote |
| SLC9B1 Knockout HCT 116 Cell Line | EDJ-KQ75536 | Human | 150159 | Details Get a Quote |
