SLC9C2
Solute Carrier Family 9 Member C2
Gene Information Card
| Symbol | SLC9C2 |
|---|---|
| Full Name | Solute Carrier Family 9 Member C2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 284525 ncbi.nlm.nih.gov/gene/284525 |
| Ensembl ID | ENSG00000188385 |
| UniProt ID | Q5T2N8 |
| OMIM ID | 612738 |
| HGNC ID | 26922 |
| Aliases | sNHE, SLC9C2, Na(+)/H(+) exchanger 10, NHE10 |
Description
SLC9C2 (Solute Carrier Family 9 Member C2) encodes a sperm-specific Na+/H+ exchanger, also known as NHE10. It is involved in pH regulation and sperm motility. The protein is localized to the sperm flagellum and is essential for male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Loss of SLC9C2 function impairs sperm pH regulation and motility | Mouse knockout models show infertility; human mutations reported in ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (sperm-specific, not in bulk tissue RNA) |
| Sperm | High | Sperm-specific expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | High | Sperm-specific Na+/H+ exchanger |
| Testis (germ cells) | High | Expressed in spermatids and spermatozoa |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function, predicted to cause infertility |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function, associated with male infertility |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, loss of Na+/H+ exchange activity, and impaired sperm motility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • solute:proton antiporter activity (GO:0015299) | • plasma membrane (GO:0005886) |
| • sperm flagellum (GO:0036126) | • regulation of intracellular pH (GO:0051453) |
| • sperm motility (GO:0030317) |
Pathways
• Sperm motility and capacitation
• pH homeostasis in sperm
Protein Summary
SLC9C2 encodes a sperm-specific Na+/H+ exchanger (NHE10) that localizes to the sperm flagellum. It regulates intracellular pH and is critical for sperm motility and male fertility. Loss-of-function mutations cause male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC9C2 Knockout HEK293 Cell Line | EDJ-KQ15291 | Human | 284525 | Details Get a Quote |
| SLC9C2 Knockout HeLa Cell Line | EDJ-KQ59477 | Human | 284525 | Details Get a Quote |
| SLC9C2 Knockout A-549 Cell Line | EDJ-KQ67943 | Human | 284525 | Details Get a Quote |
| SLC9C2 Knockout HCT 116 Cell Line | EDJ-KQ76323 | Human | 284525 | Details Get a Quote |
