AMY2A amylase alpha 2A [Homo sapiens (human)] - Gene

Summary

Official Symbol: AMY2Aprovided by HGNC
Official Full Name: amylase alpha 2Aprovided by HGNC
Primary source: HGNC:HGNC:477
See related: Ensembl:ENSG00000243480 MIM:104650; AllianceGenome:HGNC:477
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PA; AMY2
Summary: 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]
Expression: Restricted expression toward pancreas (RPKM 19140.7) See more
Orthologs: all
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Genomic context

Location:: 1p21.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (103616651..103625780)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (103466373..103474647)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (104160049..104168402)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Recurrent evolution and selection shape structural diversity at the amylase locus.
Title: Recurrent evolution and selection shape structural diversity at the amylase locus.
In silico assessment of potential leads identified from Bauhinia rufescens Lam. as alpha-glucosidase and alpha-amylase inhibitors.
Title: In silico assessment of potential leads identified from Bauhinia rufescens Lam. as α-glucosidase and α-amylase inhibitors.
Association of AMY1A/AMY2A copy numbers and AMY1/AMY2 serum enzymatic activity with obesity in Mexican children.
Title: Association of AMY1A/AMY2A copy numbers and AMY1/AMY2 serum enzymatic activity with obesity in Mexican children.
It was concluded that the genetic variant determining starch metabolism influences the response to weight-loss dietary intervention. Overweight and obese individuals carrying the AMY1-AMY2 rs11185098 genotype associated with higher amylase activity may have greater loss of adiposity during low-calorie diet interventions.
Title: Starch Digestion-Related Amylase Genetic Variant Affects 2-Year Changes in Adiposity in Response to Weight-Loss Diets: The POUNDS Lost Trial.
Data show that serum amylase was found to be correlated with waist circumference, ghrelin and PYY3-36.
Title: Relationships Between Fasting Serum Amylase and Ghrelin or Peptide YY3-36 Levels in Healthy Men.
Data show that amylase-alpha2A autoantibodies may help to diagnosis of autoimmune pancreatitis (AIP) and to differentiate AIP subtypes.
Title: Role of Amylase-α2A Autoantibodies in the Diagnosis of Autoimmune Pancreatitis.
Mammalian pancreatic alpha-amylases share a common carbohydrate binding activity and specifically bind to the intestinal brush border.
Title: Functional regulation of sugar assimilation by N-glycan-specific interaction of pancreatic α-amylase with glycoproteins of duodenal brush border membrane.
Studies indicate that chloride activates alpha-amylases and ACE, and gaining insight into the potential mechanisms by which chloride functions in PSII.
Title: Chloride regulation of enzyme turnover: application to the role of chloride in photosystem II.
We demonstrated that AMY2A is frequently silenced in gastric carcinoma deletion 1p21.1.
Title: AMY2A: a possible tumor-suppressor gene of 1p21.1 loss in gastric carcinoma.
Autoantibody against amylase alpha-2A is a novel diagnostic marker for both autoimmune pancreatitis and fulminant type 1 diabetes.
Title: Amylase alpha-2A autoantibodies: novel marker of autoimmune pancreatitis and fulminant type 1 diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-amylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-amylase activity	IDA Inferred from Direct Assay more info	PubMed
enables alpha-amylase activity	TAS Traceable Author Statement more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables chloride ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in carbohydrate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in polysaccharide digestion	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pancreatic alpha-amylase

Names: 1,4-alpha-D-glucan glucanohydrolase; amylase alpha 2A (pancreatic); glycogenase; pancreatic amylase alpha 2A

NP_000690.1

EC 3.2.1.1

XP_047274041.1

EC 3.2.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_000699.4 → NP_000690.1 pancreatic alpha-amylase precursor

See identical proteins and their annotated locations for NP_000690.1

Status: REVIEWED

Source sequence(s)

AC105272

Consensus CDS

CCDS783.1

UniProtKB/Swiss-Prot

B9EJG1, P04746

UniProtKB/TrEMBL

Q53F26

Related

ENSP00000397582.2, ENST00000414303.7

Conserved Domains (2) summary

cd11317
Location:25 → 416

AmyAc_bac_euk_AmyA; Alpha amylase catalytic domain found in bacterial and eukaryotic Alpha amylases (also called 1,4-alpha-D-glucan-4-glucanohydrolase)

smart00632
Location:422 → 510

Aamy_C; Aamy_C domain