Version: 8.0.0
Date: Tue Jan 28 2025
ALDH1A2
Homo sapiensHGNC:15472
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

ALDH1A2

Species
Homo sapiens
Symbol
ALDH1A2
Name
aldehyde dehydrogenase 1 family member A2
Synonyms
  • aldehyde dehydrogenase 1 family, member A2
  • aldehyde dehydrogenase family 1 member A2
Biotype
protein coding gene
Automated Description
Enables retinal dehydrogenase activity. Involved in several processes, including protein homotetramerization; response to retinoic acid; and retinoic acid biosynthetic process. Located in cytoplasm. Implicated in congenital diaphragmatic hernia.
RGD Description
This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11699
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
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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
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      Transgenic Alleles

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

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
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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

          ALDH1A2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

            ALDH1A2 role
            ALDH1A2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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