SFT2D2
Chr 1SFT2 domain containing 2
Also known as: UNQ512, dJ747L4.C1.2
Predicted to be involved in protein transport and vesicle-mediated transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.90LOEUF
pLI 0.011
Z-score 1.81
OE 0.43 (0.22–0.90)
Typical tolerance to LoF variation
Missense Constraint?
-0.16Z-score
OE missense 1.05 (0.88–1.25)
88 obs / 83.8 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.43 (0.22–0.90)
0≤0.351.4
Missense OE?1.05 (0.88–1.25)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 5 / 11.7Missense obs/exp: 88 / 83.8Syn Z: -0.03
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SFT2D2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools