SFTA3

Chr 14

surfactant associated 3

Also known as: NANCI, PAHRF, SFTPH, SP-H, SPH

NCBI Gene: 253970 ENSG00000257520 UniProt: P0C7M3

SFTA3 encodes a putative surfactant protein that may function in wound healing and reduction of surface tension at the ocular surface. The gene shows relatively low constraint to loss-of-function variation based on population genetics data. Currently, no definitive human diseases have been established from mutations in this gene.

ResearchSummary from RefSeq, UniProt

Involved in wound healing. Located in cytoplasm and extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

GOFmechanismLOEUF 0.96

Clinical Summary— SFTA3

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.20) despite low pLI — interpret in context.

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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?

0.96LOEUF

pLI 0.387

Z-score 1.63

OE 0.20 (0.07–0.96)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.57Z-score

OE missense 0.78 (0.60–1.01)

39 obs / 50.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.20 (0.07–0.96)

0≤0.351.4

Missense OE?0.78 (0.60–1.01)

0≤0.61.4

Synonymous OE?0.66

0≤1.21.6

LoF obs/exp: 1 / 4.9Missense obs/exp: 39 / 50.3Syn Z: 1.22

This gene — mechanism propensity

0.6164th %ile

GOF

0.76top 25%

LOF

0.3940th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.