Version: 8.0.0Date: Tue Jan 28 2025
Gene
CTNNB1
- Species
- Homo sapiens
- Symbol
- CTNNB1
- Name
- catenin beta 1
- Synonyms
- armadillo
- beta-catenin
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including I-SMAD binding activity; alpha-catenin binding activity; and enzyme binding activity. Involved in several processes, including epithelial tube morphogenesis; regulation of apoptotic process; and regulation of primary metabolic process. Located in several cellular components, including basolateral plasma membrane; euchromatin; and lateral plasma membrane. Part of several cellular components, including beta-catenin destruction complex; beta-catenin-TCF7L2 complex; and catenin complex. Implicated in several diseases, including autosomal dominant intellectual developmental disorder 19; exudative vitreoretinopathy 7; hepatocellular carcinoma (multiple); nephroblastoma; and pilomatrixoma. Biomarker of several diseases, including carcinoma (multiple); gastrointestinal system cancer (multiple); germ cell cancer (multiple); lung cancer (multiple); and urinary system cancer (multiple).
- RGD Description
- The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR45976
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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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
- Chr3:41194741...41260096 + (65.36 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.