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GeneE
9 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CELA2A
chymotrypsin like elastase 2A
Chromosome 1 Β· 1p36.21
NCBI Gene: 63036Ensembl: ENSG00000142615.9HGNC: HGNC:24609UniProt: P08217
22PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endopeptidase activityregulation of insulin secretionregulation of platelet aggregationinsulin catabolic processabdominal obesity-metabolic syndrome 4hypertensionHypertriglyceridemiahypertensive disorder
✦AI Summary

CELA2A encodes a circulating serine-type endopeptidase with dual roles in glucose metabolism and platelet regulation 1. As a pancreatic elastase, CELA2A enhances insulin signaling by triggering both insulin secretion and degradation while increasing insulin sensitivity 1. The enzyme circulates in plasma with postprandial elevation paralleling insulin levels, reducing platelet hyperactivation 1. Loss-of-function CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome, highlighting its protective role in cardiometabolic health 1. Genetically predicted elevated circulating CELA2A protects against Alzheimer's disease pathogenesis 2. In pancreatic physiology, CELA2A binds weakly to procarboxypeptidase A1 but not A2, unlike the related isoform CELA3B 3. In disease contexts, CELA2A is downregulated in pancreatic ductal adenocarcinoma compared to normal tissue 4. Notably, clinical fecal elastase ELISA tests do not detect CELA2A, instead measuring CELA3 isoforms specifically 56. These findings position CELA2A as a potential therapeutic target for metabolic and neurodegenerative diseases.

Sources cited
1
CELA2A is a circulating enzyme that reduces platelet hyperactivation, triggers insulin secretion and degradation, increases insulin sensitivity, and loss-of-function mutations predispose to early-onset atherosclerosis and metabolic syndrome
PMID: 31358993
2
Genetically predicted increase in circulating CELA2A protects against Alzheimer's disease pathogenesis
PMID: 40266545
3
ProCELA2A binds weakly to procarboxypeptidase A1 but not A2, unlike CELA3B
PMID: 27358403
4
CELA2A is among downregulated hub genes in pancreatic ductal adenocarcinoma tissue
PMID: 36116415
5
Commercial fecal elastase ELISA is specific for CELA3 isoforms and does not detect CELA2A
PMID: 27459204
6
ScheBo Pancreatic Elastase 1 Test specifically measures CELA3A and CELA3B but not CELA2A
PMID: 28360028
Disease Associationsβ“˜21
abdominal obesity-metabolic syndrome 4Open Targets
0.67Moderate
hypertensionOpen Targets
0.47Moderate
HypertriglyceridemiaOpen Targets
0.47Moderate
coronary artery diseaseOpen Targets
0.47Moderate
diabetes mellitusOpen Targets
0.47Moderate
hypertensive disorderOpen Targets
0.47Moderate
placental retentionOpen Targets
0.27Weak
chronic pancreatitisOpen Targets
0.13Weak
hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
Romano-Ward syndromeOpen Targets
0.07Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.06Suggestive
left ventricular noncompactionOpen Targets
0.06Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.06Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.06Suggestive
Familial short QT syndromeOpen Targets
0.06Suggestive
Atrial stand stillOpen Targets
0.05Suggestive
dilated cardiomyopathyOpen Targets
0.05Suggestive
sudden cardiac arrestOpen Targets
0.05Suggestive
familial atrial fibrillationOpen Targets
0.05Suggestive
Abdominal obesity-metabolic syndrome 4UniProt
Pathogenic Variants5
NM_033440.3(CELA2A):c.253C>A (p.Leu85Met)Likely pathogenic
Coronary artery disorder;Hypertensive disorder;Diabetes;Hypertriglyceridemia|Abdominal obesity-metabolic syndrome 4
β˜…β˜…β˜†β˜†2026β†’ Residue 85
NM_033440.3(CELA2A):c.209C>T (p.Thr70Met)Pathogenic
Coronary artery disorder;Hypertriglyceridemia;Diabetes;Hypertensive disorder|CELA2A-related disorder|Abdominal obesity-metabolic syndrome 4
β˜…β˜…β˜†β˜†2022β†’ Residue 70
NM_033440.3(CELA2A):c.572G>A (p.Trp191Ter)Likely pathogenic
Abdominal obesity-metabolic syndrome 4
β˜…β˜†β˜†β˜†2024β†’ Residue 191
NM_033440.3(CELA2A):c.639+1G>CPathogenic
Coronary artery disorder;Diabetes;Hypertensive disorder;Hypertriglyceridemia|Abdominal obesity-metabolic syndrome 4
β˜†β˜†β˜†β˜†2019
NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn)Pathogenic
Coronary artery disorder;Diabetes;Hypertensive disorder;Hypertriglyceridemia|Abdominal obesity-metabolic syndrome 4
β˜†β˜†β˜†β˜†2019β†’ Residue 121
View on ClinVar β†—
Related Genes
CELProtein interaction90%CPA1Protein interaction90%CPB1Protein interaction90%PNLIPRP1Protein interaction90%CELA3BProtein interaction90%KLK5Protein interaction83%
Tissue Expression6 tissues
Liver
100%
Ovary
81%
Brain
56%
Lung
19%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CELA2ACELCPA1CPB1PNLIPRP1CELA3BKLK5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P08217
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.66–1.16]
RankingsWhere CELA2A stands among ~20K protein-coding genes
  • #13,616of 20,598
    Most Researched22
  • #3,630of 5,498
    Most Pathogenic Variants5
  • #12,133of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedCELA2A
Sources retrieved9 papers
Response timeβ€”
πŸ“„ Sources
9β–Ό
1
Combining GWAS Summary Data and Proteomics Identified Potential Drug Targets in Dementia.
PMID: 40266545
Mol Neurobiol Β· 2025
1.00
2
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.
PMID: 31358993
Nat Genet Β· 2019
0.89
3
Leonurine Alleviates DSS-Induced Colitis in Mice by Regulating Pancreatic Secretion Pathway and Gut Microbiota.
PMID: 41079267
J Immunol Res Β· 2025
0.78
4
Specificity of a Polyclonal Fecal Elastase ELISA for CELA3.
PMID: 27459204
PLoS One Β· 2016
0.67
5
Gene signature and connectivity mapping to assist with drug prediction for pancreatic ductal adenocarcinoma.
PMID: 36116415
Surg Oncol Β· 2022
0.56