SLC66A2

Chr 18

solute carrier family 66 member 2

Also known as: PQLC1

NCBI Gene: 80148ENSG00000122490UniProt: Q8N2U9

Predicted to be involved in phospholipid translocation and retrograde transport, endosome to Golgi. Predicted to be located in cytosol and membrane. Predicted to be active in endosome membrane and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.91
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?
0.91LOEUF
pLI 0.010
Z-score 1.78
OE 0.43 (0.23–0.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.10Z-score
OE missense 1.02 (0.90–1.16)
181 obs / 177.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.43 (0.23–0.91)
0≤0.351.4
Missense OE?1.02 (0.90–1.16)
0≤0.61.4
Synonymous OE?1.34
0≤1.21.6
LoF obs/exp: 5 / 11.5Missense obs/exp: 181 / 177.3Syn Z: -2.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC66A2 · 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