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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AMY2B
amylase alpha 2B
Chromosome 1 · 1p21.1
NCBI Gene: 280Ensembl: ENSG00000240038.8HGNC: HGNC:478UniProt: P19961
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomecarbohydrate metabolic processGO:0005615alpha-amylase activitydenturesdiabetes mellitusvertebral joint diseaseintelligence
✦AI Summary

AMY2B encodes a third human alpha-amylase isozyme distinct from the salivary (AMY1) and pancreatic (AMY2A) forms 1. The gene consists of ten exons with high sequence homology to AMY1 and AMY2, featuring a more distant upstream promoter 1. AMY2B is constitutively expressed in healthy humans, with the encoded protein (HXA) detected in urine at approximately 1:5.4-4.1 molar ratios relative to pancreatic amylase 2. HXA possesses characteristic catalytic properties distinguished by distinctive peptide sequences (LVGLLDLALEKDYVR) and exhibits altered substrate specificity compared to salivary and pancreatic amylases 3. Functionally, AMY2B catalyzes alpha-1,4-glycosidic bond hydrolysis in carbohydrate metabolism through calcium and metal ion binding 23. Evolutionary analyses reveal AMY2B underwent single-origin duplications, with copy number increases correlating with agricultural adoption in human populations over the past 12,000 years, suggesting positive selection 4. Similar patterns appear in dogs, where AMY2B copy number expansion (median 11 copies versus 3 in wolves) enabled starch-rich diet adaptation following agriculture's global spread 56. The gene exhibits genomic instability with recurrent rearrangements 7, reflecting its role in human and canine dietary evolution.

Sources cited
1
AMY2B is a third human alpha-amylase gene with ten exons homologous to AMY1 and AMY2, with upstream promoter location
PMID: 2401405
2
AMY2B-encoded HXA is expressed in healthy humans with detectable urinary levels at specific molar ratios to pancreatic amylase
PMID: 1429515
3
HXA contains characteristic peptide sequences distinguishing it from salivary and pancreatic amylases
PMID: 8268204
4
AMY2B duplications have single origin and increased copy numbers in agricultural populations showing signs of positive selection over 12,000 years
PMID: 39232174
5
AMY2B copy number expansion in dogs correlates with agricultural development and starch-rich diet adaptation
PMID: 27406651
6
Ancient dog genomes show AMY2B expansion began by 7th millennium BP in early farming societies
PMID: 28018628
7
AMY2B exhibits genomic instability with recurrent rearrangements and independent CNV series
PMID: 28101908
Disease Associationsⓘ20
denturesOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.05Suggestive
vertebral joint diseaseOpen Targets
0.05Suggestive
intelligenceOpen Targets
0.04Suggestive
placenta praeviaOpen Targets
0.04Suggestive
osteoarthritisOpen Targets
0.04Suggestive
Sensorineural hearing impairmentOpen Targets
0.03Suggestive
atrophic gastritisOpen Targets
0.03Suggestive
hearing lossOpen Targets
0.03Suggestive
polycythemiaOpen Targets
0.03Suggestive
hyperaldosteronismOpen Targets
0.02Suggestive
osteoarthritis, hipOpen Targets
0.02Suggestive
oropharynx cancerOpen Targets
0.02Suggestive
lagophthalmosOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
mucous membrane pemphigoidOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IDNKShared pathway100%GLT6D1Shared pathway100%LANCL3Shared pathway100%HEXDShared pathway100%KLBShared pathway100%YDJCShared pathway100%
Tissue Expression6 tissues
Ovary
100%
Liver
82%
Lung
71%
Heart
51%
Bone Marrow
39%
Brain
18%
Gene Interaction Network
Click a node to explore
AMY2BIDNKGLT6D1LANCL3HEXDKLBYDJC
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P19961
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.40LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.14 [0.94–1.40]
RankingsWhere AMY2B stands among ~20K protein-coding genes
  • #10,730of 20,598
    Most Researched36
  • #14,457of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedAMY2B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cloning and characterization of a third type of human alpha-amylase gene, AMY2B.
PMID: 2401405
Gene · 1990
1.00
2
Detection of human urinary alpha-amylase encoded by the AMY2B gene using a fluorogenic substrate, FG5P.
PMID: 1429515
J Biochem · 1992
0.90
3
Identification of the characteristic amino-acid sequence for human alpha-amylase encoded by the AMY2B gene.
PMID: 8268204
Biochim Biophys Acta · 1993
0.80
4
Recurrent evolution and selection shape structural diversity at the amylase locus.
PMID: 39232174
Nature · 2024
0.70
5
The human amylase-encoding genes amy2 and amy3 are identical to AMY2A and AMY2B.
PMID: 2483397
Gene · 1989
0.60