SLC10A3

Chr X

solute carrier family 10 member 3

Also known as: DXS253E, P3

The protein encoded by this X-linked gene appears to have essential housekeeping functions based on its ubiquitous expression and evolutionary conservation across species. The gene shows moderate intolerance to loss-of-function variants (pLI 0.81), suggesting haploinsufficiency may be pathogenic, though specific disease associations and clinical phenotypes have not been established. X-linked inheritance would be expected for pathogenic variants in this gene.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.55
Clinical SummarySLC10A3
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.81) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.55LOEUF
pLI 0.807
Z-score 2.16
OE 0.00 (0.000.55)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.22Z-score
OE missense 0.76 (0.670.87)
159 obs / 208.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.000.55)
00.351.4
Missense OE0.76 (0.670.87)
00.61.4
Synonymous OE1.12
01.21.6
LoF obs/exp: 0 / 5.4Missense obs/exp: 159 / 208.4Syn Z: -0.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC10A3 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC