SERPINB12

Chr 18

serpin family B member 12

Also known as: YUKOPIN

Enables serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of protein catabolic process. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
1.96
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.96LOEUF
pLI 0.000
Z-score -2.82
OE 1.73 (1.261.96)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.71Z-score
OE missense 1.14 (1.021.26)
246 obs / 216.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.73 (1.261.96)
00.351.4
Missense OE?1.14 (1.021.26)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 30 / 17.3Missense obs/exp: 246 / 216.4Syn Z: -0.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SERPINB12 · 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

No active trials found for this gene.

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