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AMY2B amylase alpha 2B [ Homo sapiens (human) ]

Gene ID: 280, updated on 2-Nov-2024

Summary

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Official Symbol
AMY2Bprovided by HGNC
Official Full Name
amylase alpha 2Bprovided by HGNC
Primary source
HGNC:HGNC:478
See related
Ensembl:ENSG00000240038 MIM:104660; AllianceGenome:HGNC:478
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
HXA; AMY2; AMY3
Summary
Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013]
Expression
Biased expression in pancreas (RPKM 6104.1) and salivary gland (RPKM 774.6) See more
Orthologs
all
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Genomic context

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See AMY2B in Genome Data Viewer
Location:
1p21.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (103554644..103579534)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (103403587..103428477)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (104097266..104122156)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904593 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:103698107-103698264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1412 Neighboring gene RNPC3 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1413 Neighboring gene RN7SK pseudogene 285 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:104100112-104100330 Neighboring gene RNA binding region (RNP1, RRM) containing 3 Neighboring gene actin gamma 1 pseudogene 4 Neighboring gene amylase alpha 2A Neighboring gene amylase alpha 1A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. A novel type of human alpha-amylase produced in lung carcinoid tumor. Tomita N, et al. Gene, 1989 Mar 15. PMID 2701942
  2. alpha-Amylase expressed in human liver is encoded by the AMY-2B gene identified in tumorous tissues. Koyama I, et al. Clin Chim Acta, 2001 Jul 5. PMID 11408008
  3. α-Amylase expressed in human small intestinal epithelial cells is essential for cell proliferation and differentiation. Date K, et al. J Cell Biochem, 2020 Feb. PMID 31478242, Free PMC Article
  4. Detection of human urinary alpha-amylase encoded by the AMY2B gene using a fluorogenic substrate, FG5P. Omichi K, et al. J Biochem, 1992 Sep. PMID 1429515
  5. Cloning and characterization of a third type of human alpha-amylase gene, AMY2B. Yokouchi H, et al. Gene, 1990 Jun 15. PMID 2401405

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. alpha-Amylase expressed in human small intestinal epithelial cells is essential for cell proliferation and differentiation.
    Title: α-Amylase expressed in human small intestinal epithelial cells is essential for cell proliferation and differentiation.
  2. A significant link between serum amylase activity and ABO blood type in Chinese subjects.
    Title: Serum amylase activity altered by the ABO blood group system in Chinese subjects.
  3. 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.
  4. Observational study of genotype prevalence. (HuGE Navigator)
    Title: On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication).
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: RNPC3

Homology

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 ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
alpha-amylase 2B
Names
1,4-alpha-D-glucan glucanohydrolase 2B
amylase alpha 2B (pancreatic)
carcinoid alpha-amylase
glycogenase
NP_001373038.1
NP_001374366.1
NP_066188.1

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)

  1. NM_001386109.1 → NP_001373038.1  alpha-amylase 2B precursor

    Status: REVIEWED

    Source sequence(s)
    AC105272
    Consensus CDS
    CCDS782.1
    UniProtKB/Swiss-Prot
    B3KTI1, B3KXB7, D3DT76, P19961, Q9UBH3
    UniProtKB/TrEMBL
    Q53F26
    Conserved Domains (3) 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
    PLN02447
    Location:85 → 155
    PLN02447; 1,4-alpha-glucan-branching enzyme

  2. NM_001387437.1 → NP_001374366.1  alpha-amylase 2B precursor

    Status: REVIEWED

    Source sequence(s)
    AC105272
    Consensus CDS
    CCDS782.1
    UniProtKB/Swiss-Prot
    B3KTI1, B3KXB7, D3DT76, P19961, Q9UBH3
    UniProtKB/TrEMBL
    Q53F26
    Related
    ENSP00000507176.1, ENST00000684275.1
    Conserved Domains (3) 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
    PLN02447
    Location:85 → 155
    PLN02447; 1,4-alpha-glucan-branching enzyme

  3. NM_020978.4 → NP_066188.1  alpha-amylase 2B precursor

    See identical proteins and their annotated locations for NP_066188.1

    Status: REVIEWED

    Source sequence(s)
    AI436349, BC011179, DA157436, DB235608
    Consensus CDS
    CCDS782.1
    UniProtKB/Swiss-Prot
    B3KTI1, B3KXB7, D3DT76, P19961, Q9UBH3
    UniProtKB/TrEMBL
    Q53F26
    Related
    ENSP00000354610.4, ENST00000361355.8
    Conserved Domains (3) 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
    PLN02447
    Location:85 → 155
    PLN02447; 1,4-alpha-glucan-branching enzyme

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    103554644..103579534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    103403587..103428477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P19961.1 GenPept UniProtKB/Swiss-Prot:P19961

Gene LinkOut

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