SLC16A9

Chr 10

solute carrier family 16 member 9

Also known as: C10orf36, MCT9

NCBI Gene: 220963ENSG00000165449UniProt: Q7RTY1OMIM: 614242

Enables carnitine transmembrane transporter activity and creatine transmembrane transporter activity. Involved in carnitine transmembrane transport; creatine transmembrane transport; and urate metabolic process. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.69
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.69LOEUF
pLI 0.007
Z-score 2.58
OE 0.36 (0.21–0.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.70Z-score
OE missense 0.88 (0.79–0.98)
232 obs / 264.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.21–0.69)
0≤0.351.4
Missense OE?0.88 (0.79–0.98)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 7 / 19.2Missense obs/exp: 232 / 264.1Syn Z: -0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC16A9 · 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