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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SERPINA11
serpin family A member 11
Chromosome 14 Β· 14q32.13
NCBI Gene: 256394Ensembl: ENSG00000186910.6HGNC: HGNC:19193UniProt: Q86U17
11PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
serine-type endopeptidase inhibitor activityGO:0005615extracellular regionneurodegenerative diseasealcohol drinkingPleural effusionpericardial effusion
✦AI Summary

SERPINA11 is a serine protease inhibitor belonging to the serpin family that functions as a serine-type endopeptidase inhibitor [GO:0005615]. Primary evidence indicates SERPINA11 plays a critical role in extracellular matrix (ECM) homeostasis through inhibition of serine proteases involved in ECM remodeling 1. Loss-of-function variants in SERPINA11 cause a perinatal lethal serpinopathy characterized by gross and histopathological ECM disruption, with pronounced protein expression in bronchiolar epithelium 1. Mechanistically, SERPINA11 appears to regulate protease activity essential for proper embryonic development. The gene shows differential expression across multiple tissues, and pathogenic variants result in reduced protein abundance and impaired serine protease inhibition 1. Clinically, SERPINA11 emerges as a biomarker across multiple disease contexts. It represents a novel exosomal biomarker for early atherosclerosis detection 2, predicts blood pressure response to bariatric surgery in adolescents 3, and associates with multidrug therapy response in leprosy with higher baseline expression in poor responders 4. Additionally, SERPINA11 variants are implicated in anterior cruciate ligament injuries through effects on fibroblast deformability and ECM balance 5, and serve as potential diagnostic markers in radiation-related breast cancer 6. These findings establish SERPINA11 as a multifunctional protease inhibitor critical for developmental and systemic homeostasis.

Sources cited
1
SERPINA11 is a serine protease inhibitor critical for embryonic development; biallelic loss-of-function variants cause perinatal lethal phenotype with ECM disruption
PMID: 38831697
2
SERPINA11 identified as novel exosomal biomarker for early atherosclerosis detection in 3D bioprinted atherosclerosis model
PMID: 40367963
3
SERPINA11 demonstrates consistent association with blood pressure management outcomes following bariatric surgery in adolescents
PMID: 41111440
4
SERPINA11 shows high expression in multibacillary leprosy patients with poor response to multidrug therapy
PMID: 35937686
5
SERPINA11 variants associated with anterior cruciate ligament injury through effects on fibroblast deformability and ECM balance
PMID: 27692106
6
SERPINA11 identified as potential diagnostic marker in radiation-related breast cancer
PMID: 36647876
7
SERPINA11 identified as novel candidate gene linked to embryonic lethality through molecular autopsy in pregnancy losses
PMID: 28749478
8
SERPINA11 harbors rare variants with trans-association to GDF2 in cardiometabolic proteomic analysis
PMID: 35504531
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.32Weak
alcohol drinkingOpen Targets
0.31Weak
pericardial effusionOpen Targets
0.27Weak
Pleural effusionOpen Targets
0.27Weak
Non-immune hydrops fetalisOpen Targets
0.11Weak
respiratory system diseaseOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
acute tonsillitisOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.06Suggestive
atherosclerosisOpen Targets
0.01Suggestive
psoriatic arthritisOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
fetal growth restrictionOpen Targets
0.01Suggestive
obesityOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
Invasive Breast CarcinomaOpen Targets
0.00Suggestive
Abnormality of the pancreasOpen Targets
0.00Suggestive
hydrops fetalisOpen Targets
0.00Suggestive
liver cancerOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_001080451.2(SERPINA11):c.672C>A (p.Tyr224Ter)Likely pathogenic
Pericardial effusion;Pleural effusion
β˜…β˜†β˜†β˜†2019β†’ Residue 224
View on ClinVar β†—
Related Genes
SERPINA7Protein interaction80%
Tissue Expression6 tissues
Liver
100%
Heart
0%
Bone Marrow
0%
Ovary
0%
Brain
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SERPINA11SERPINA7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q86U17
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.24LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.91 [0.68–1.24]
RankingsWhere SERPINA11 stands among ~20K protein-coding genes
  • #16,892of 20,598
    Most Researched11
  • #5,473of 5,498
    Most Pathogenic Variants1
  • #13,075of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedSERPINA11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Validation of the exosomal protein SERPINA11 as a potential atherosclerosis marker via bioprinted scaffold.
PMID: 40367963
Biofabrication Β· 2025
1.00
2
Plasma Metabolomic and Proteomic Signatures of Blood Pressure Management After Bariatric Surgery Among Adolescents.
PMID: 41111440
Hypertension Β· 2025
0.90
3
Gene expression patterns associated with multidrug therapy in multibacillary leprosy.
PMID: 35937686
Front Cell Infect Microbiol Β· 2022
0.80
4
Molecular autopsy in maternal-fetal medicine.
PMID: 28749478
Genet Med Β· 2018
0.70
5
Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations.
PMID: 35504531
Mol Metab Β· 2022
0.60