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CTNNB1 catenin beta 1

Gene ID: 1499, updated on 9-Jan-2022
Gene type: protein coding
Also known as: EVR7; CTNNB; MRD19; NEDSDV; armadillo


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

Exudative vitreoretinopathy 7
MedGen: C4539767OMIM: 617572GeneReviews: Not available
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available
Hepatocellular carcinoma
MedGen: C2239176OMIM: 114550GeneReviews: Not available
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Malignant Colorectal Neoplasm
MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome
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MedGen: C0025149OMIM: 155255GeneReviews: Not available
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Mental retardation, autosomal dominant 19
MedGen: C3554449OMIM: 615075GeneReviews: Not available
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Neoplasm of ovary
MedGen: C0919267OMIM: 167000GeneReviews: Not available
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MedGen: C0206711OMIM: 132600GeneReviews: Not available
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Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
GeneReviews: Not available

Copy number response

Copy number response

No evidence available (Last evaluated 2017-11-22)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2017-11-22)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 3; NC_000003.12 (41199422..41240445)
Total number of exons:


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