SLC25A5

Chr X

solute carrier family 25 member 5

Also known as: 2F1, AAC2, ANT2, T2, T3

NCBI Gene: 292ENSG00000005022UniProt: P05141OMIM: 300150

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene.[provided by RefSeq, Jun 2013]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
24
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.35
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.35LOEUF
pLI 0.932
Z-score 2.71
OE 0.00 (0.00–0.35)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.65Z-score
OE missense 0.34 (0.26–0.44)
43 obs / 127.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.35)
0≤0.351.4
Missense OE?0.34 (0.26–0.44)
0≤0.61.4
Synonymous OE?0.79
0≤1.21.6
LoF obs/exp: 0 / 8.6Missense obs/exp: 43 / 127.2Syn Z: 1.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC25A5 · 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