CTNNB1 catenin beta 1
Gene ID: 1499, updated on 16-Apr-2024Gene type: protein coding
Also known as: EVR7; CTNNB; MRD19; NEDSDV; armadillo
- See all available tests in GTR for this gene
- Go to complete Gene record for CTNNB1
- Go to Variation Viewer for CTNNB1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Colorectal cancer | See labs |
| Exudative vitreoretinopathy 7 | See labs |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Hepatocellular carcinoma | See labs |
| Medulloblastoma | See labs |
| Neoplasm of ovary | See labs |
| Pilomatrixoma | See labs |
| Severe intellectual disability-progressive spastic diplegia syndrome | See labs |
| Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2017-11-22) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-11-22) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 3p22.1
- Sequence:
- Chromosome: 3; NC_000003.12 (41199505..41240443)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CTNNB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CTNNB1 database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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