This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produ... See more...

Aliases for AMY2A Gene

Aliases for AMY2A Gene

  • Amylase Alpha 2A 2 3 5
  • 1,4-Alpha-D-Glucan Glucanohydrolase 3 4
  • Amylase Alpha 2A (Pancreatic) 2 3
  • Pancreatic Alpha-Amylase 3 4
  • EC 4 50
  • PA 3 4
  • Amylase, Alpha 2A; Pancreatic 2
  • Pancreatic Amylase Alpha 2A 3
  • Glycogenase 3
  • AMY2A 5
  • AMY2 3

External Ids for AMY2A Gene

Previous HGNC Symbols for AMY2A Gene

  • AMY2

Previous GeneCards Identifiers for AMY2A Gene

  • GC01P104824
  • GC01P103168
  • GC01P103423
  • GC01P103871
  • GC01P103961
  • GC01P104115
  • GC01P102215
  • GC01P104159

Summaries for AMY2A Gene

Entrez Gene Summary for AMY2A Gene

  • This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015]

GeneCards Summary for AMY2A Gene

AMY2A (Amylase Alpha 2A) is a Protein Coding gene. Diseases associated with AMY2A include Pancreatitis and Autoimmune Pancreatitis. Among its related pathways are Salivary secretion and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and alpha-amylase activity. An important paralog of this gene is AMY2B.

Gene Wiki entry for AMY2A Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMY2A Gene

Genomics for AMY2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AMY2A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J103616 Promoter 0.3 EPDnew 250.7 +0.0 35 0.1 AMY2A HSALNG0005642-001 AMY1A
GH01J103617 Promoter 0.3 EPDnew 250.7 +0.6 597 0.1 AMY2A HSALNG0005642-001 AMY1A
GH01J103561 Promoter/Enhancer 0.9 Ensembl ENCODE 0.2 -54.9 -54910 1 FOXA2 RXRA ZBTB33 HNF4A FOXA1 RBBP5 SP1 RAD51 RUNX3 RELB HSALNG0005637 HSALNG0005638 AMY2B LOC101928436 RN7SKP285 RNPC3 ACTG1P4 AMY2A
GH01J103570 Promoter 0.3 EPDnew 0.3 -46.2 -46184 0.1 ACTG1P4 AMY2B MN308968 HSALNG0005638 AMY2A
GH01J103571 Promoter 0.3 EPDnew 0.3 -45.7 -45726 0.1 ACTG1P4 AMY2B MN308968 HSALNG0005638 AMY2A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMY2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMY2A

Top Transcription factor binding sites by QIAGEN in the AMY2A gene promoter:
  • C/EBPbeta
  • HTF
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Nkx2-2
  • POU2F1
  • RP58
  • Sox5
  • Sox9

Genomic Locations for AMY2A Gene

Latest Assembly
8,970 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
8,354 bases
Plus strand

(GRCh37/hg19 by Ensembl)
8,404 bases
Plus strand

Genomic View for AMY2A Gene

Genes around AMY2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMY2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMY2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMY2A Gene

Proteins for AMY2A Gene

  • Protein details for AMY2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pancreatic alpha-amylase
    Protein Accession:
    Secondary Accessions:
    • B9EJG1
    • Q9UBH3

    Protein attributes for AMY2A Gene

    511 amino acids
    Molecular mass:
    57707 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Name=chloride; Xref=ChEBI:CHEBI:17996;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for AMY2A Gene

    Alternative splice isoforms for AMY2A Gene


neXtProt entry for AMY2A Gene

Selected DME Specific Peptides for AMY2A Gene


Post-translational modifications for AMY2A Gene

  • Glycosylation at Asn476
  • Modification sites at PhosphoSitePlus

Other Protein References for AMY2A Gene

Domains & Families for AMY2A Gene

Gene Families for AMY2A Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted secreted proteins

Protein Domains for AMY2A Gene

  • Alpha amylase, catalytic subdomain
  • Alpha-amylase signature
  • Alpha amylase, C-terminal all-beta domain

Suggested Antigen Peptide Sequences for AMY2A Gene

GenScript: Design optimal peptide antigens:
  • 1,4-alpha-D-glucan glucanohydrolase (AMYP_HUMAN)
  • Amylase, alpha 2A (Pancreatic) (B9EJG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyl hydrolase 13 family.
  • Belongs to the glycosyl hydrolase 13 family.
genes like me logo Genes that share domains with AMY2A: view

Function for AMY2A Gene

Molecular function for AMY2A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Endohydrolysis of (1->4)-alpha-D-glucosidic linkages in polysaccharides containing three or more (1->4)-alpha-linked D-glucose units.; EC=; Evidence={ECO:0000269|PubMed:10091666, ECO:0000269|PubMed:10769135, ECO:0000269|PubMed:11772019, ECO:0000269|PubMed:11914097};.
GENATLAS Biochemistry:
amylase,alpha-2A,pancreas,see AMY@

Enzyme Numbers (IUBMB) for AMY2A Gene

Phenotypes From GWAS Catalog for AMY2A Gene

Gene Ontology (GO) - Molecular Function for AMY2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004556 alpha-amylase activity IEA,IDA 10769135
GO:0005509 calcium ion binding IDA 10769135
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with AMY2A: view
genes like me logo Genes that share phenotypes with AMY2A: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMY2A

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for AMY2A Gene

Localization for AMY2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMY2A Gene

Secreted, extracellular space.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMY2A gene
Compartment Confidence
extracellular 5
plasma membrane 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AMY2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS,IDA 10769135
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with AMY2A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AMY2A Gene

Pathways & Interactions for AMY2A Gene

genes like me logo Genes that share pathways with AMY2A: view

Gene Ontology (GO) - Biological Process for AMY2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA,NAS 2788608
GO:0008152 metabolic process IEA --
GO:0016052 carbohydrate catabolic process IDA 10769135
GO:0044245 polysaccharide digestion TAS --
genes like me logo Genes that share ontologies with AMY2A: view

No data available for SIGNOR curated interactions for AMY2A Gene

Drugs & Compounds for AMY2A Gene

(18) Drugs for AMY2A Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acarbose Approved, Investigational Pharma Target, inhibitor Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 102
Miglitol Approved Pharma Enzyme, inhibitor 13
Pidolic acid Approved, Investigational Pharma Target, Enzyme, ligand 0
D-glucose Approved, Experimental, Investigational, Vet_approved Pharma Target, Enzyme, substrate 0
Icodextrin Approved, Investigational Pharma Enzyme, substrate 33

(1) Additional Compounds for AMY2A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • British gum
  • Caloreen
  • Corn dextrin
  • Crystal gum
  • Dextrid
genes like me logo Genes that share compounds with AMY2A: view

Transcripts for AMY2A Gene

mRNA/cDNA for AMY2A Gene

5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMY2A

Alternative Splicing Database (ASD) splice patterns (SP) for AMY2A Gene

No ASD Table

Relevant External Links for AMY2A Gene

GeneLoc Exon Structure for

Expression for AMY2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AMY2A Gene

mRNA differential expression in normal tissues according to GTEx for AMY2A Gene

This gene is overexpressed in Pancreas (x52.7).

Protein differential expression in normal tissues from HIPED for AMY2A Gene

This gene is overexpressed in Pancreatic juice (59.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AMY2A Gene

Protein tissue co-expression partners for AMY2A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMY2A

SOURCE GeneReport for Unigene cluster for AMY2A Gene:


mRNA Expression by UniProt/SwissProt for AMY2A Gene:

Tissue specificity: Detected in pancreas (at protein level).

Evidence on tissue expression from TISSUES for AMY2A Gene

  • Pancreas(5)
  • Intestine(2.5)
  • Blood(2.3)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with AMY2A: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AMY2A Gene

Orthologs for AMY2A Gene

This gene was present in the common ancestor of animals.

Orthologs for AMY2A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AMY2A 29
  • 99.35 (n)
(Canis familiaris)
Mammalia -- 30
  • 90 (a)
-- 30
  • 90 (a)
-- 30
  • 90 (a)
-- 30
  • 90 (a)
LOC480825 29
  • 89.56 (n)
-- 30
  • 89 (a)
-- 30
  • 88 (a)
(Bos Taurus)
Mammalia AMY2A 29
  • 88 (n)
-- 30
  • 86 (a)
AMY2B 30
  • 86 (a)
(Mus musculus)
Mammalia Amy2a4 30
  • 86 (a)
Amy2a3 30
  • 86 (a)
Amy2a5 30
  • 86 (a)
Amy2a2 30
  • 86 (a)
Amy1 29 16 30
  • 83.37 (n)
Amy2a1 30
  • 83 (a)
(Monodelphis domestica)
Mammalia -- 30
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 84 (a)
(Rattus norvegicus)
Mammalia Amy1a 29
  • 82.84 (n)
(Gallus gallus)
Aves AMY1A 30
  • 80 (a)
AMY2A 29 30
  • 75.8 (n)
(Anolis carolinensis)
Reptilia -- 30
  • 80 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia amy2b 29
  • 71.23 (n)
(Danio rerio)
Actinopterygii amy2a 30
  • 74 (a)
zgc:66313 30
  • 68 (a)
zgc:92137 29 30
  • 67.38 (n)
wufb64c06 29
Fruit Fly
(Drosophila melanogaster)
Insecta Amy-d 30 31
  • 54 (a)
Amy-p 30 31
  • 54 (a)
Amyrel 30 31
  • 49 (a)
(Caenorhabditis elegans)
Secernentea C50B6.7 30 31
  • 33 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 54 (a)
Species where no ortholog for AMY2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AMY2A Gene

Gene Tree for AMY2A (if available)
Gene Tree for AMY2A (if available)
Evolutionary constrained regions (ECRs) for AMY2A: view image
Alliance of Genome Resources:
Additional Orthologs for AMY2A

Paralogs for AMY2A Gene

Paralogs for AMY2A Gene

(4) SIMAP similar genes for AMY2A Gene using alignment to 3 proteins:

  • H7BZQ8_HUMAN Pseudogenes for AMY2A Gene

genes like me logo Genes that share paralogs with AMY2A: view

Variants for AMY2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMY2A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1140401 Likely Benign: not provided 103,623,874(+) T/C
NM_000699.3(AMY2A):c.1110T>C (p.Asn370=)
rs143462563 Benign: not provided 103,618,081(+) C/A
NM_000699.3(AMY2A):c.296C>A (p.Thr99Asn)
rs45498894 Likely Benign: not provided 103,618,955(+) C/T
NM_000699.3(AMY2A):c.360C>T (p.Asn120=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AMY2A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AMY2A Gene

Variant ID Type Subtype PubMed ID
dgv13n111 CNV duplication 26073780
dgv1n31 CNV gain 19718026
dgv213n100 CNV gain 25217958
dgv215n100 CNV gain 25217958
dgv216n100 CNV gain 25217958
dgv217n100 CNV gain 25217958
dgv218n100 CNV gain 25217958
dgv219n100 CNV loss 25217958
dgv220n100 CNV gain+loss 25217958
dgv221n100 CNV gain+loss 25217958
dgv222n100 CNV gain 25217958
dgv223n100 CNV gain+loss 25217958
dgv224n100 CNV loss 25217958
dgv225n100 CNV gain 25217958
dgv226n100 CNV loss 25217958
dgv2e203 CNV gain+loss 21179565
dgv392n54 CNV gain 21841781
dgv394n54 CNV gain 21841781
dgv395n54 CNV gain 21841781
dgv397n54 CNV loss 21841781
dgv398n54 CNV gain 21841781
dgv3n14 CNV loss 18776910
dgv400n54 CNV loss 21841781
dgv401n54 CNV loss 21841781
dgv404n54 CNV loss 21841781
dgv405n54 CNV loss 21841781
dgv407n54 CNV loss 21841781
dgv408n54 CNV gain 21841781
dgv409n54 CNV loss 21841781
dgv411n54 CNV loss 21841781
dgv412n54 CNV gain+loss 21841781
dgv415n54 CNV loss 21841781
dgv416n54 CNV loss 21841781
dgv418n54 CNV gain 21841781
dgv419n54 CNV loss 21841781
dgv420n54 CNV loss 21841781
dgv423n54 CNV gain 21841781
dgv424n54 CNV gain 21841781
dgv426n54 CNV loss 21841781
dgv429n54 CNV loss 21841781
dgv430n54 CNV gain 21841781
dgv431n54 CNV gain 21841781
dgv432n54 CNV loss 21841781
dgv433n54 CNV gain 21841781
dgv434n54 CNV loss 21841781
dgv58n67 CNV gain 20364138
dgv68e212 CNV gain 25503493
esv1003868 CNV gain 20482838
esv23292 CNV gain+loss 19812545
esv2715585 CNV deletion 23290073
esv2758954 CNV gain+loss 17122850
esv33927 CNV gain 17666407
esv3893856 CNV gain+loss 25118596
esv3893867 CNV loss 25118596
nsv1012949 CNV gain 25217958
nsv10428 CNV gain+loss 18304495
nsv1110133 CNV duplication 24896259
nsv1152675 CNV duplication 26484159
nsv2176 CNV deletion 18451855
nsv428157 CNV gain+loss 18775914
nsv471345 CNV gain 19718026
nsv482048 CNV gain 20164927
nsv483008 CNV gain+loss 15286789
nsv514909 CNV gain 21397061
nsv517215 CNV gain+loss 19592680
nsv526367 CNV gain 19592680
nsv546955 CNV loss 21841781
nsv546976 CNV gain 21841781
nsv547016 CNV gain+loss 21841781
nsv547022 CNV gain 21841781
nsv547028 CNV loss 21841781
nsv547042 CNV loss 21841781
nsv547054 CNV gain+loss 21841781
nsv547089 CNV gain 21841781
nsv547116 CNV gain+loss 21841781
nsv830915 CNV gain+loss 17160897
nsv946109 CNV duplication 23825009
nsv950526 CNV duplication 24416366

Variation tolerance for AMY2A Gene

Gene Damage Index Score: 6.63; 78.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMY2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMY2A Gene

Disorders for AMY2A Gene

MalaCards: The human disease database

(2) MalaCards diseases for AMY2A Gene - From: COP and GCD

Disorder Aliases PubMed IDs
autoimmune pancreatitis
  • lymphoplasmocytic sclerosing pancreatitis
- elite association - COSMIC cancer census association via MalaCards
Search AMY2A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AMY2A

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AMY2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AMY2A Gene

Publications for AMY2A Gene

  1. Population genetic studies of the pancreatic amylase (AMY2, E.C. in Bulgaria. (PMID: 15571103) Baltova S … Scheil HG (Collegium antropologicum 2004) 3 22 40
  2. Human pancreatic amylase is encoded by two different genes. (PMID: 3260028) Groot PC … Frants RR (Nucleic acids research 1988) 2 3 4
  3. Amylase alpha-2A autoantibodies: novel marker of autoimmune pancreatitis and fulminant type 1 diabetes. (PMID: 19001184) Endo T … Kobayashi T (Diabetes 2009) 3 22
  4. Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization. (PMID: 17669146) Reutter H … Weber RG (BJU international 2007) 3 22
  5. On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication). (PMID: 16152770) Baltova SD (Folia medica 2005) 3 40

Products for AMY2A Gene

Sources for AMY2A Gene