SFTA2

Chr 6

surfactant associated 2

Also known as: GSGL541, SFTPG, SP-G, UNQ541

NCBI Gene: 389376ENSG00000196260UniProt: Q6UW10

Predicted to be located in Golgi apparatus; extracellular region; and transport vesicle. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.79
LOEUF
GOF
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?
1.79LOEUF
pLI 0.036
Z-score 0.38
OE 0.75 (0.29–1.79)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.31Z-score
OE missense 0.86 (0.65–1.15)
33 obs / 38.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.75 (0.29–1.79)
0≤0.351.4
Missense OE?0.86 (0.65–1.15)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 2 / 2.7Missense obs/exp: 33 / 38.4Syn Z: 0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SFTA2 · 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