SLC25A18

Chr 22

solute carrier family 25 member 18

Also known as: GC2

NCBI Gene: 83733ENSG00000182902UniProt: Q9H1K4OMIM: 609303

Enables amino acid:proton symporter activity. Involved in L-glutamate transmembrane transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.28
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.28LOEUF
pLI 0.000
Z-score 0.77
OE 0.79 (0.50–1.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.62Z-score
OE missense 0.88 (0.77–0.99)
173 obs / 197.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.79 (0.50–1.28)
0≤0.351.4
Missense OE?0.88 (0.77–0.99)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 12 / 15.2Missense obs/exp: 173 / 197.4Syn Z: 0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC25A18 · 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