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

    Gene ID: 280, updated on 28-Oct-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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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