AMY2A: Alpha-Amylase 2A (Pancreatic)
Key enzyme in starch digestion and biomarker for pancreatic function and disease
Gene Information Card
| Symbol | AMY2A |
|---|---|
| Full Name | Amylase, Alpha 2A (Pancreatic) |
| Gene Type | protein-coding |
| Chromosomal Location | 1p21.1 |
| NCBI Gene ID | 279 ncbi.nlm.nih.gov/gene/279 |
| Ensembl ID | ENSG00000243480 |
| UniProt ID | P04746 |
| OMIM ID | 104650 |
| HGNC ID | 477 |
| Aliases | AMY2, AMY2A1, AMY2A2, PA |
Description
AMY2A encodes pancreatic alpha-amylase, an enzyme that hydrolyzes starch, glycogen, and related polysaccharides into maltose and glucose. It is produced exclusively by the pancreas and secreted into the small intestine for dietary carbohydrate digestion. AMY2A is a major component of pancreatic juice and its serum levels are used clinically as a biomarker for pancreatic disorders, including acute pancreatitis and pancreatic cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Pancreatitis | Elevated serum AMY2A due to pancreatic acinar cell damage; diagnostic marker | ClinVar, OMIM |
| Pancreatic Cancer | Altered AMY2A expression in pancreatic ductal adenocarcinoma; potential biomarker | COSMIC, NCBI |
| Chronic Pancreatitis | Reduced AMY2A secretion due to progressive pancreatic fibrosis | OMIM, PubMed |
| Hyperamylasemia | Increased serum amylase from pancreatic or salivary sources; AMY2A-specific assays differentiate | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 1245.3 | High |
| Salivary Gland | 2.1 | Low |
| Liver | 0.0 | Not detected |
| Small Intestine | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 850.2 | High expression |
| MIA PaCa-2 (pancreatic cancer) | 720.5 | High expression |
| HepG2 (liver cancer) | 0.0 | No expression |
| HeLa (cervical cancer) | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208G>A (p.Gly70Arg) | Missense | <0.01% | Reduced enzyme activity; associated with chronic pancreatitis |
| c.544C>T (p.Arg182Trp) | Missense | <0.01% | Loss of catalytic function; reported in hyperamylasemia |
| c.784G>A (p.Gly262Ser) | Missense | 0.02% | Decreased stability; potential risk factor for pancreatitis |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly70Arg, p.Arg182Trp) reduce or abolish amylase activity, impairing starch digestion and potentially contributing to pancreatic insufficiency.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in AMY2A.
Dominant Negative (DN)
No evidence of dominant-negative effects; AMY2A functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • alpha-amylase activity (GO:0004556) | • calcium ion binding (GO:0005509) |
| • carbohydrate metabolic process (GO:0005975) | • extracellular region (GO:0005576) |
| • pancreatic juice (GO:0030141) |
Pathways
• Starch and sucrose metabolism (KEGG: hsa00500)
• Carbohydrate digestion and absorption (KEGG: hsa04973)
• Pancreatic secretion (KEGG: hsa04972)
Protein Summary
Pancreatic alpha-amylase (AMY2A) is a 511-amino-acid secreted glycoprotein with a molecular weight of approximately 58 kDa. It contains a conserved catalytic domain with an active site that binds calcium and chloride ions for optimal activity. The enzyme is synthesized in pancreatic acinar cells, stored in zymogen granules, and released into the duodenum upon food intake. AMY2A specifically cleaves alpha-1,4-glycosidic bonds in starch, yielding maltose, maltotriose, and limit dextrins. Its serum level is a standard clinical test for pancreatitis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMY2A Knockout HEK293 Cell Line | EDJ-KQ50120 | Human | 279 | Details Get a Quote |
| AMY2A Knockout HeLa Cell Line | EDJ-KQ52615 | Human | 279 | Details Get a Quote |
| AMY2A Knockout A-549 Cell Line | EDJ-KQ61094 | Human | 279 | Details Get a Quote |
| AMY2A Knockout HCT 116 Cell Line | EDJ-KQ69577 | Human | 279 | Details Get a Quote |
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