Version: 8.0.0
Date: Tue Jan 28 2025
SPTBN2
Homo sapiensHGNC:11276
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SPTBN2

Species
Homo sapiens
Symbol
SPTBN2
Name
spectrin beta, non-erythrocytic 2
Synonyms
  • beta-III spectrin
  • glutamate transporter EAAT4-associated protein 41
Biotype
protein coding gene
Automated Description
Enables cadherin binding activity. Involved in vesicle-mediated transport. Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. Part of spectrin. Implicated in autosomal recessive spinocerebellar ataxia 14 and spinocerebellar ataxia type 5.
RGD Description
Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11915
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
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    No data available

    Alleles and Variants

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    Allele Synonyms
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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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        Models

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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

          SPTBN2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            SPTBN2 role
            SPTBN2 genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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