Version: 8.0.0
Date: Tue Jan 28 2025
Slc22a5
Mus musculusMGI:1329012
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Slc22a5

Species
Mus musculus
Symbol
Slc22a5
Name
solute carrier family 22 (organic cation transporter), member 5
Synonyms
  • CT1
  • juvenile visceral steatosis
Biotype
protein coding gene
Automated Description
Enables (R)-carnitine transmembrane transporter activity. Involved in several processes, including (R)-carnitine transmembrane transport; response to tumor necrosis factor; and response to type II interferon. Acts upstream of or within several processes, including adult heart development; carnitine metabolic process; and carnitine transport. Located in apical plasma membrane and brush border membrane. Is expressed in several structures, including liver; metanephros; nasal cavity mucosa; spleen; and testis. Used to study systemic primary carnitine deficiency disease. Human ortholog(s) of this gene implicated in Crohn's disease; cardiomyopathy; inherited metabolic disorder; and systemic primary carnitine deficiency disease. Orthologous to human SLC22A5 (solute carrier family 22 member 5).
MGI Description
PHENOTYPE: Homozygotes for a spontaneous missense mutation exhibit systemic carnitine deficiency, cardiac hypertrophy, impaired Na-dependent carnitine transport, fatty liver, hypoglycemia, high postnatal mortality, and male infertility. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24064
No data available
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
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
    Gene
    Association
    Disease Qualifier
    Disease
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
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        Download all Alleles/Variants for all genes of the species

        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
            GRCm39
            Viewer Help
            53.760M53.765M53.770M53.775M53.780M

            Sequence Details

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            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            Slc22a5 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              Slc22a5 role
              Slc22a5 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
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              Phenotype or trait
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