Version: 8.0.0
Date: Tue Jan 28 2025
AGER
Homo sapiensHGNC:320
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

AGER

Species
Homo sapiens
Symbol
AGER
Name
advanced glycosylation end-product specific receptor
Synonyms
  • advanced glycosylation end product-specific receptor
  • MGC22357
Biotype
protein coding gene
Automated Description
Enables several functions, including S100 protein binding activity; amyloid-beta binding activity; and identical protein binding activity. Involved in several processes, including modulation of chemical synaptic transmission; positive regulation of intracellular signal transduction; and regulation of macromolecule metabolic process. Located in apical plasma membrane; cell junction; and fibrillar center. Implicated in several diseases, including autoimmune disease (multiple); cardiovascular system disease (multiple); cystic fibrosis; kidney failure (multiple); and lupus nephritis. Biomarker of several diseases, including artery disease (multiple); chronic kidney disease (multiple); congestive heart failure (multiple); diabetic retinopathy (multiple); and lung disease (multiple).
RGD Description
The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11973
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          AGER molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            AGER role
            AGER genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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