Version: 8.0.0Date: Tue Jan 28 2025
Gene
Sptbn1
- Species
- Mus musculus
- Symbol
- Sptbn1
- Name
- spectrin beta, non-erythrocytic 1
- Synonyms
- 9930031C03Rik
- AL033301
- Biotype
- protein coding gene
- Automated Description
- Predicted to enable GTPase binding activity; actin filament binding activity; and ankyrin binding activity. Predicted to be a structural constituent of cytoskeleton. Involved in central nervous system formation and protein localization to plasma membrane. Acts upstream of or within regulation of SMAD protein signal transduction. Located in several cellular components, including M band; axolemma; and cuticular plate. Is expressed in heart; liver; lung; nervous system; and spleen. Used to study Beckwith-Wiedemann syndrome. Orthologous to human SPTBN1 (spectrin beta, non-erythrocytic 1).
- MGI Description
- PHENOTYPE: Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs. [provided by MGI curators]
- 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
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Gene | Association | Disease Qualifier | Disease | Evidence | Source | Based On | References |
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Sequence Feature Viewer
- Genome location
- Chr11:30049395...30218175 - (168.78 kb)
- Assembly version
- GRCm39
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