Version: 8.0.0
Date: Tue Jan 28 2025
Slc12a2
Mus musculusMGI:101924
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Slc12a2

Species
Mus musculus
Symbol
Slc12a2
Name
solute carrier family 12, member 2
Synonyms
  • Bsc2
  • mBSC2
Biotype
protein coding gene
Automated Description
Enables potassium ion transmembrane transporter activity. Involved in several processes, including cellular response to lipopolysaccharide; cellular response to potassium ion; and inorganic ion transmembrane transport. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; mammary gland duct morphogenesis; and regulation of secretion by cell. Located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and neuronal cell body. Is expressed in several structures, including alimentary system; lung; metanephros; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 78 and middle cerebral artery infarction. Orthologous to human SLC12A2 (solute carrier family 12 member 2).
MGI Description
PHENOTYPE: Homozygous mutants show variably severe deafness, head-shaking, circling, reduced endolymph secretion, male sterility, growth retardation, hypotension, reduced salivation, delayed ductal outgrowth of mammary epithelium and increased periweaning mortality. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11827
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
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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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      Has Phenotype Annotations
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        Models

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

          Genome location
          Assembly version
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          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

          Slc12a2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Slc12a2 role
            Slc12a2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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