AMY2B: Amylase, Alpha 2B (Pancreatic)
A key pancreatic amylase gene involved in starch digestion and linked to pancreatic function and metabolic traits.
Gene Information Card
| Symbol | AMY2B |
|---|---|
| Full Name | Amylase, Alpha 2B (Pancreatic) |
| Gene Type | protein-coding |
| Chromosomal Location | 1p21.1 |
| NCBI Gene ID | 280 ncbi.nlm.nih.gov/gene/280 |
| Ensembl ID | ENSG00000240038 |
| UniProt ID | P04746 |
| OMIM ID | 104660 |
| HGNC ID | 478 |
| Aliases | AMY2, AMY2A, AMY2B, alpha-amylase 2B, pancreatic alpha-amylase |
Description
AMY2B encodes pancreatic alpha-amylase, an enzyme that hydrolyzes starch, glycogen, and related polysaccharides into maltose and glucose. It is primarily expressed in the pancreas and plays a critical role in dietary starch digestion. Variations in AMY2B copy number have been associated with metabolic traits, including obesity and insulin resistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatitis | Altered amylase activity may contribute to pancreatic inflammation; elevated serum amylase is a diagnostic marker. | ClinVar, NCBI |
| Obesity | Low AMY2B copy number is associated with increased body mass index and obesity risk. | NCBI, OMIM |
| Type 2 Diabetes | Reduced pancreatic amylase activity may influence postprandial glucose metabolism. | NCBI, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 100.0 | High |
| Salivary Gland | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Small Intestine | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 100.0 | High expression |
| MIA PaCa-2 (pancreatic cancer) | 80.0 | Moderate expression |
| HeLa (cervical cancer) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | missense | <0.01% | Likely loss of function; reduced amylase activity |
| c.100G>A (p.Gly34Arg) | missense | <0.01% | Uncertain significance; reported in ClinVar |
| Copy number loss | structural | Variable | Associated with lower amylase levels and obesity risk |
Mutation functional classification
Loss of Function (LOF)
Missense variants affecting the catalytic site or start codon reduce enzymatic activity.
Gain of Function (GOF)
Not reported for AMY2B.
Dominant Negative (DN)
Not reported for AMY2B.
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) |
Pathways
• Starch and sucrose metabolism (KEGG: hsa00500)
• Carbohydrate digestion and absorption (KEGG: hsa04973)
Protein Summary
Pancreatic alpha-amylase (AMY2B) is a 511-amino-acid secreted enzyme that catalyzes the endohydrolysis of 1,4-alpha-glucosidic linkages in starch and glycogen. It requires calcium for stability and chloride for activity. The protein is a key component of pancreatic juice and is essential for efficient carbohydrate digestion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMY2B Knockout HEK293 Cell Line | EDJ-KQ50121 | Human | 280 | Details Get a Quote |
| AMY2B Knockout HeLa Cell Line | EDJ-KQ52616 | Human | 280 | Details Get a Quote |
| AMY2B Knockout A-549 Cell Line | EDJ-KQ61095 | Human | 280 | Details Get a Quote |
| AMY2B Knockout HCT 116 Cell Line | EDJ-KQ69578 | Human | 280 | Details Get a Quote |
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