SLC49A3

Chr 4

solute carrier family 49 member 3

Also known as: LP2561, MFSD7

NCBI Gene: 84179ENSG00000169026UniProt: Q6UXD7

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.73
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?
1.73LOEUF
pLI 0.000
Z-score -1.01
OE 1.25 (0.90–1.73)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.76Z-score
OE missense 1.12 (1.03–1.23)
345 obs / 307.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.25 (0.90–1.73)
0≤0.351.4
Missense OE?1.12 (1.03–1.23)
0≤0.61.4
Synonymous OE?1.17
0≤1.21.6
LoF obs/exp: 24 / 19.2Missense obs/exp: 345 / 307.4Syn Z: -1.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC49A3 · 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