Version: 8.0.0
Date: Tue Jan 28 2025
SLC17A8
Homo sapiensHGNC:20151
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SLC17A8

Species
Homo sapiens
Symbol
SLC17A8
Name
solute carrier family 17 member 8
Synonyms
  • deafness, autosomal dominant 25
  • DFNA25
Biotype
protein coding gene
Automated Description
Enables L-glutamate uniporter activity and sodium:phosphate symporter activity. Involved in L-glutamate transmembrane transport; neurotransmitter loading into synaptic vesicle; and phosphate ion homeostasis. Predicted to be located in several cellular components, including axon; cytoplasmic vesicle; and dendrite. Predicted to be part of chloride channel complex. Predicted to be active in excitatory synapse; glutamatergic synapse; and synaptic vesicle membrane. Implicated in autosomal dominant nonsyndromic deafness 25.
RGD Description
This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11662
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
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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
          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

          SLC17A8 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            SLC17A8 role
            SLC17A8 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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