SERPINE3

Chr 13

serpin family E member 3

NCBI Gene: 647174 ENSG00000253309 UniProt: A8MV23

The protein is a serine protease inhibitor that functions in the extracellular space. SERPINE3 is not currently associated with any known human genetic diseases, and the gene shows low constraint against loss-of-function variants (pLI near 0, LOEUF >1), suggesting it may be tolerant to genetic variation.

ResearchSummary from RefSeq, UniProt

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular region. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.12

LOEUF

Multiple*

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?

1.12LOEUF

pLI 0.000

Z-score 1.22

OE 0.67 (0.42–1.12)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.97Z-score

OE missense 0.82 (0.73–0.93)

188 obs / 229.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.67 (0.42–1.12)

0≤0.351.4

Missense OE?0.82 (0.73–0.93)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 11 / 16.3Missense obs/exp: 188 / 229.3Syn Z: 0.43

Background carrier burden — how many people carry a rare variant somewhere in SERPINE3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

507 rare PASS variants

Rare truncating (LoF)

1 in 800

106 rare PASS variants

Rare synonymous (reference)

1 in 100

231 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SERPINE3. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 190	1 in 810
South Asian	~43k	1 in 140	1 in 700
Remaining (unassigned)	~30k	1 in 100	1 in 890
European (Finnish)	~27k	1 in 490	1 in 2,600
Admixed American	~22k	1 in 110	1 in 900
African / African American	~21k	1 in 120	1 in 790
East Asian	~20k	1 in 150	1 in 3,300
Ashkenazi Jewish	~13k	1 in 1,400	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 190	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 6 of 8 coding exons well covered in gnomAD exomes; exons 7, 10 marginal. Genomes: all 8.? see exons ↓