Catenin, Beta-1

Alternative Names

  • CTNNB1
  • Cadherin-Associated Protein, Beta
  • CTNNB
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OMIM Number

116806

NCBI Gene ID

1499

Uniprot ID

P35222

Length

65,356 bases

No. of Exons

19

No. of isoforms

1

Protein Name

Catenin beta-1

Molecular Mass

85497 Da

Amino Acid Count

781

Genomic Location

chr3:41,194,741-41,260,096

Gene Map Locus
3p22.1

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001904.4:c.2315A>G Lebanonchr3:41239311Likely BenignUncertain SignificanceBreast CancerNG_013302.2:g.44861A>G; NM_001904.4:c.2315A>G ; NP_001895.1:p.Asn772Ser138501547726679
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