SLC9B2
Solute Carrier Family 9 Member B2
Gene Information Card
| Symbol | SLC9B2 |
|---|---|
| Full Name | solute carrier family 9 member B2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 133308 ncbi.nlm.nih.gov/gene/133308 |
| Ensembl ID | ENSG00000164056 |
| UniProt ID | Q86UD5 |
| OMIM ID | 610155 |
| HGNC ID | 20606 |
| Aliases | NHA2, NHE10, SLC9B2 |
Description
SLC9B2 (solute carrier family 9 member B2) encodes a sodium/hydrogen exchanger (NHE) that belongs to the SLC9 family. This protein is involved in ion homeostasis, particularly in the kidney and bone, and may play a role in pH regulation and sodium transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal tubular acidosis | Impaired sodium/hydrogen exchange leading to acid-base imbalance | Limited; inferred from family member SLC9A1 and functional studies |
| Osteoporosis | Altered bone resorption via osteoclast pH regulation | Indirect; expression in osteoclasts suggests role |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 5.2 | Medium |
| Bone | 3.8 | Low |
| Testis | 2.1 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Moderate expression |
| Osteoclasts | 6.5 | High expression |
| HepG2 | 1.2 | Low expression |
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 functional impact |
| c.457G>A (p.Val153Ile) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not established for SLC9B2; no confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
Not established for SLC9B2; no confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not established for SLC9B2; no evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • sodium:proton antiporter activity | • sodium ion transport |
| • proton transmembrane transport | • plasma membrane |
| • integral component of membrane |
Pathways
• Ion transport by P-type ATPases
• SLC-mediated transmembrane transport
Protein Summary
SLC9B2 encodes a sodium/hydrogen exchanger (NHA2) that localizes to the plasma membrane and intracellular vesicles. It mediates electroneutral exchange of Na+ for H+ and is implicated in renal acid-base balance and osteoclast function. The protein contains 12 transmembrane domains typical of the SLC9 family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC9B2 Knockout HEK293 Cell Line | EDJ-KQ137 | Human | 133308 | Details Get a Quote |
| SLC9B2 Knockout HeLa Cell Line | EDJ-KQ18023 | Human | 133308 | Details Get a Quote |
| SLC9B2 Knockout A-549 Cell Line | EDJ-KQ45988 | Human | 133308 | Details Get a Quote |
| SLC9B2 Knockout HCT 116 Cell Line | EDJ-KQ45989 | Human | 133308 | Details Get a Quote |
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