SLC9C1

Chr 3

solute carrier family 9 member C1

Also known as: NHE, NHE-10, SLC9A10, sperm-NHE

NCBI Gene: 285335ENSG00000172139UniProt: Q4G0N8

Predicted to enable potassium:proton antiporter activity and sodium:proton antiporter activity. Predicted to be involved in potassium ion transmembrane transport; regulation of intracellular pH; and sodium ion import across plasma membrane. Predicted to act upstream of or within flagellated sperm motility. Predicted to be located in membrane and motile cilium. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.77
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.000
Z-score 3.01
OE 0.57 (0.43–0.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.06Z-score
OE missense 0.99 (0.93–1.06)
570 obs / 574.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.43–0.77)
0≤0.351.4
Missense OE?0.99 (0.93–1.06)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 33 / 57.7Missense obs/exp: 570 / 574.1Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC9C1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients