SERPINB1

Chr 6

serpin family B member 1

Also known as: EI, ELANH2, HEL-S-27, HEL57, LEI, M/NEI, MNEI, PI-2

NCBI Gene: 1992ENSG00000021355UniProt: P30740

The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

138
ClinVar variants
52
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— SERPINB1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
52 Pathogenic / Likely Pathogenic· 65 VUS of 138 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.49LOEUF
pLI 0.000
Z-score 0.26
OE 0.92 (0.59–1.49)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.79Z-score
OE missense 0.85 (0.75–0.96)
178 obs / 210.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.92 (0.59–1.49)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.85 (0.75–0.96)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.95
0≤1.21.6
LoF obs/exp: 12 / 13.0Missense obs/exp: 178 / 210.4Syn Z: 0.35

ClinVar Variant Classifications

138 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic46
Likely Pathogenic6
VUS65
Likely Benign4
Benign5
46
Pathogenic
6
Likely Pathogenic
65
VUS
4
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
46
0
46
Likely Pathogenic
0
0
6
0
6
VUS
0
58
7
0
65
Likely Benign
0
3
1
0
4
Benign
0
2
2
1
5
Total063621126

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SERPINB1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Identification of exosome-related SERPINB1 as a novel predictor for tumor immune microenvironment and clinical outcomes in ovarian cancer.
Gu R et al.·J Ovarian Res
2025
A proteomic analysis of NETosis in trauma: Emergence of serpinB1 as a key player.
Schaid TR Jr et al.·J Trauma Acute Care Surg
2023
Identification of proteomic signatures associated with lung cancer and COPD.
Pastor MD et al.·J Proteomics
2013Clinical trial
Decreased expression of SERPINB1 correlates with tumor invasion and poor prognosis in hepatocellular carcinoma.
Cui X et al.·J Mol Histol
2014
Association between circulating SerpinB1 levels and insulin sensitivity in Japanese with type 2 diabetes: A single-center, cross-sectional, observational study.
Kyohara M et al.·PLoS One
2022
Serine protease inhibitor (SERPIN) B1 suppresses cell migration and invasion in glioma cells.
Huasong G et al.·Brain Res
2015
Plasma serpinB1 is related to insulin sensitivity but not pancreatic β-Cell function in non-diabetic adults.
Glicksman M et al.·Physiol Rep
2017
Diagnostic and predictive values of pyroptosis-related genes in sepsis.
Wang X et al.·Front Immunol
2023
Myeloid conditional deletion and transgenic models reveal a threshold for the neutrophil survival factor Serpinb1.
Burgener SS et al.·Biol Chem
2016Functional
Identification of vitamin D(3) target genes in human breast cancer tissue.
Sheng L et al.·J Steroid Biochem Mol Biol
2016
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Targeting Macrophage Crosstalk to PASMC by Blunting Inflammatory Phenotype Via SerpinB1 Protects Against Hypoxia-Induced Pulmonary Hypertension.
Hao J et al.·Hypertension
2026
SERPINB1 promotes porcine deltacoronavirus replication by targeting the viral accessory protein NS7a.
Yan J et al.·Vet Microbiol
2026
Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2.
Almaguer-Mederos LE et al.·Sci Rep
2025🔓 Open Access
SerpinB1 reduces neutrophil airway inflammation, airway remodeling, and pyroptosis in asthmatic mice by interacting with Elane.
Chen N et al.·Hum Cell
2025Functional
Single-cell sequencing analysis and multiple machine learning methods identified immune-associated SERPINB1 and CPEB4 as novel biomarkers for COVID-19-induced ARDS.
Yang H et al.·Naturwissenschaften
2025
Top 5 resultsSearch Europe PMC ↗

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