Version: 8.0.0
Date: Tue Jan 28 2025
SLC2A1
Homo sapiensHGNC:11005
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SLC2A1

Species
Homo sapiens
Symbol
SLC2A1
Name
solute carrier family 2 member 1
Synonyms
  • choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)
  • CSE
Biotype
protein coding gene
Automated Description
Enables D-glucose transmembrane transporter activity; identical protein binding activity; and organic anion transmembrane transporter activity. Involved in import across plasma membrane; photoreceptor cell maintenance; and protein-containing complex assembly. Acts upstream of or within central nervous system development and transport across blood-brain barrier. Located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and midbody. Part of glucose transporter complex. Implicated in epilepsy (multiple); glucose transporter type 1 deficiency syndrome (multiple); myelomeningocele; obesity; and type 2 diabetes mellitus. Biomarker of several diseases, including Alzheimer's disease; Hirschsprung's disease; hemangioma; nephroblastoma; and pre-eclampsia.
RGD Description
This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23503
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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    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
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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

          SLC2A1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            SLC2A1 role
            SLC2A1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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