SFTPA2

Chr 10

surfactant protein A2

Also known as: COLEC5, ILD2, PSAP, PSP-A, PSPA, SFTP1, SFTPA2B, SP-2A

NCBI Gene: 729238ENSG00000185303UniProt: Q8IWL1

This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtInterstitial lung disease 2

Clinical highlights

Gene-disease validity (ClinGen)
interstitial lung disease 2 · ADDefinitivesufficient evidence for diagnostic panels
1
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.27
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — SFTPA2
Authoritative clinical overview · Recommended first read
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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?
1.27LOEUF
pLI 0.009
Z-score 1.10
OE 0.56 (0.27–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.16Z-score
OE missense 1.28 (1.13–1.45)
176 obs / 137.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.56 (0.27–1.27)
0≤0.351.4
Missense OE?1.28 (1.13–1.45)
0≤0.61.4
Synonymous OE?1.42
0≤1.21.6
LoF obs/exp: 4 / 7.2Missense obs/exp: 176 / 137.8Syn Z: -2.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SFTPA2 · 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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients