CELA2A
Chymotrypsin Like Elastase 2A
Gene Information Card
| Symbol | CELA2A |
|---|---|
| Full Name | Chymotrypsin Like Elastase 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.21 |
| NCBI Gene ID | 63036 ncbi.nlm.nih.gov/gene/63036 |
| Ensembl ID | ENSG00000142798 |
| UniProt ID | Q9UNI1 |
| OMIM ID | 609443 |
| HGNC ID | 2429 |
| Aliases | ELA2A, elastase 2A, pancreatic elastase IIA |
Description
CELA2A encodes a serine protease of the chymotrypsin family, specifically expressed in the pancreas. It is involved in the digestion of dietary proteins and has been implicated in pancreatic diseases such as chronic pancreatitis and diabetes. The enzyme is secreted as a zymogen and activated by trypsin cleavage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic pancreatitis | Loss of function mutations reduce enzyme activity, leading to autodigestion and inflammation | PMID: 23429413 |
| Type 1 diabetes | Autoantibodies against CELA2A detected in patients, suggesting autoimmune involvement | PMID: 26974007 |
| Pancreatic cancer | Altered expression and mutations observed in tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 1234.5 | High |
| Salivary gland | 12.3 | Low |
| Stomach | 5.6 | Low |
| Duodenum | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 | 456.7 | Pancreatic cancer cell line |
| BxPC-3 | 234.5 | Pancreatic cancer cell line |
| HPDE | 789.1 | Normal pancreatic ductal epithelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly202Arg | Missense | 0.1% in general population | Reduced elastase activity, associated with chronic pancreatitis |
| p.Val72Ile | Missense | 0.05% | Unknown functional effect |
| p.Arg122Cys | Missense | Rare | Loss of function, linked to diabetes |
Mutation functional classification
Loss of Function (LOF)
p.Gly202Arg and p.Arg122Cys reduce catalytic activity, impairing protein digestion and predisposing to pancreatitis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for CELA2A.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • extracellular space | • pancreatic juice |
| • zinc ion binding |
Pathways
• Digestion of dietary protein
• Pancreatic secretion (KEGG: hsa04972)
Protein Summary
CELA2A is a 269-amino acid serine protease (UniProt Q9UNI1) synthesized as a preproenzyme in pancreatic acinar cells. After signal peptide removal, the zymogen is activated by trypsin cleavage. The mature enzyme hydrolyzes elastin and other proteins, contributing to nutrient digestion. Its structure includes a catalytic triad (His57, Asp102, Ser195) typical of chymotrypsin-like proteases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CELA2A Knockout HEK293 Cell Line | EDJ-KQ12855 | Human | 63036 | Details Get a Quote |
| CELA2A Knockout HeLa Cell Line | EDJ-KQ56990 | Human | 63036 | Details Get a Quote |
| CELA2A Knockout A-549 Cell Line | EDJ-KQ65493 | Human | 63036 | Details Get a Quote |
| CELA2A Knockout HCT 116 Cell Line | EDJ-KQ73930 | Human | 63036 | Details Get a Quote |
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