Version: 8.0.0
Date: Tue Jan 28 2025
SLC12A2
Homo sapiensHGNC:10911
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SLC12A2

Species
Homo sapiens
Symbol
SLC12A2
Name
solute carrier family 12 member 2
Synonyms
  • basolateral Na-K-Cl symporter
  • BSC
Biotype
protein coding gene
Automated Description
Enables several functions, including Hsp90 protein binding activity; inorganic cation transmembrane transporter activity; and protein-folding chaperone binding activity. Involved in several processes, including inorganic cation transmembrane transport; transepithelial ammonium transport; and transepithelial chloride transport. Located in several cellular components, including apical plasma membrane; basal plasma membrane; and lateral plasma membrane. Is active in plasma membrane. Implicated in autosomal dominant nonsyndromic deafness 78. Biomarker of middle cerebral artery infarction.
RGD Description
The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
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
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
          Viewer Help
          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

          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
            Reference
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