SFTPD

Chr 10

surfactant protein D

Also known as: COLEC7, PSP-D, SFTP4, SP-D

NCBI Gene: 6441ENSG00000133661UniProt: P35247OMIM: 178635

The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]

OMIMResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.98LOEUF
pLI 0.000
Z-score 1.63
OE 0.56 (0.34–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.58Z-score
OE missense 0.89 (0.79–1.00)
190 obs / 213.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.34–0.98)
0≤0.351.4
Missense OE?0.89 (0.79–1.00)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 9 / 16.0Missense obs/exp: 190 / 213.8Syn Z: 1.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SFTPD · 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