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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AMY2A
amylase alpha 2A
Chromosome 1 · 1p21.1
NCBI Gene: 279Ensembl: ENSG00000243480.8HGNC: HGNC:477UniProt: P04746
60PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
carbohydrate catabolic processalpha-amylase activitycalcium ion bindingchloride ion bindingtype 2 diabetes mellitusdiabetes mellitusneurodegenerative diseasecardiovascular disease
✦AI Summary

AMY2A encodes pancreatic alpha-amylase, a hydrolase enzyme that catalyzes carbohydrate catabolism by hydrolyzing glycosyl bonds in polysaccharides 1. The enzyme contains calcium and chloride ion binding sites essential for catalytic activity and functions in the extracellular space to facilitate starch digestion [GO annotations]. AMY2A gene copy number has evolved under recent positive selection in agricultural populations consuming high-starch diets over the past 12,000 years, with duplication-containing haplotypes increasing in frequency among West Eurasians 2. Multiple independent structural variants create diverse AMY2A copy number architectures across human populations, with some showing higher-order expansions particularly in sub-Saharan Africans 3. Functionally, AMY2A copy number correlates with serum pancreatic amylase enzymatic activity; lower activity associates with increased childhood obesity risk, particularly in populations with medium-to-high starch intake 4. AMY2A variants prevalent in Arctic indigenous peoples reflect adaptation to lipid/protein-rich traditional diets, and deviation from ancestral dietary patterns can precipitate metabolic disorders 5. Clinically, elevated plasma AMY2A protein levels contribute to a multi-protein biomarker signature distinguishing gastric cancer and early gastric cancer from controls (AUC 0.930-0.998) 6. These findings highlight AMY2A's role in dietary-genetic interactions influencing carbohydrate metabolism and obesity susceptibility.

Sources cited
1
AMY2A (amy2) and AMY2B (amy3) are the human pancreatic amylase-encoding genes
PMID: 2483397
2
AMY2A underwent multiple duplication/deletion events with evidence of positive selection in agricultural populations over 12,000 years, with higher copy numbers in farming vs. hunter-gatherer populations
PMID: 39232174
3
AMY2A copy number positively correlates with serum amylase activity; lower amylase activity associates with childhood obesity, especially with medium-to-high starch intake
PMID: 32314532
4
Plasma AMY2A is part of a 13-protein biomarker panel for gastric cancer diagnosis with high diagnostic performance (AUC 0.930-0.998)
PMID: 38631604
5
AMY2A is part of a highly variable amylase gene cluster with multiple independent copy number variant series, particularly higher-order expansions in sub-Saharan African populations
PMID: 28101908
6
AMY2A polymorphic variants are prevalent in Arctic indigenous peoples adapted to lipid/protein-rich diets; deviation from traditional diet can trigger metabolic disorders
PMID: 39218018
7
AMY2A copy number and pancreatic amylase activity interact with starch intake to influence obesity risk, possibly through effects on oligosaccharide-fermenting bacteria and short-chain fatty acid production
PMID: 37216679
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.60Moderate
diabetes mellitusOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.33Weak
cardiovascular diseaseOpen Targets
0.26Weak
metabolic syndromeOpen Targets
0.26Weak
agingOpen Targets
0.09Suggestive
kidney cancerOpen Targets
0.08Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.07Suggestive
obesityOpen Targets
0.06Suggestive
denturesOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
anthrax infectionOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
hyperinsulinemic hypoglycemiaOpen Targets
0.04Suggestive
atrophic gastritisOpen Targets
0.03Suggestive
dental cariesOpen Targets
0.03Suggestive
intelligenceOpen Targets
0.03Suggestive
polycythemiaOpen Targets
0.03Suggestive
cystic fibrosisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
ACARBOSEApproved
Maltase-glucoamylase inhibitor
type 2 diabetes mellitus
Related Genes
GBE1Protein interaction100%SIProtein interaction99%AGLProtein interaction97%AMY1BProtein interaction97%PYGMProtein interaction97%MGAMProtein interaction97%
Tissue Expression6 tissues
Liver
100%
Ovary
57%
Lung
17%
Brain
4%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
AMY2AGBE1SIAGLAMY1BPYGMMGAM
PROTEIN STRUCTURE
Preparing viewer…
PDB5U3A · 0.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.52 [0.33–0.85]
RankingsWhere AMY2A stands among ~20K protein-coding genes
  • #7,629of 20,598
    Most Researched60
  • #995of 1,025
    FDA-Approved Drug Targets1
  • #7,342of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedAMY2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The human amylase-encoding genes amy2 and amy3 are identical to AMY2A and AMY2B.
PMID: 2483397
Gene · 1989
1.00
2
Recurrent evolution and selection shape structural diversity at the amylase locus.
PMID: 39232174
Nature · 2024
0.90
3
Association of AMY1A/AMY2A copy numbers and AMY1/AMY2 serum enzymatic activity with obesity in Mexican children.
PMID: 32314532
Pediatr Obes · 2020
0.80
4
Targeted plasma proteomic analysis uncovers a high-performance biomarker panel for early diagnosis of gastric cancer.
PMID: 38631604
Clin Chim Acta · 2024
0.70
5
Identification of proteomic signatures associated with lung cancer and COPD.
PMID: 23665002
J Proteomics · 2013
0.60