CTNNB1 Chromosome 3

Catenin beta 1

205 variants 205 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"Armadillo repeat containing|Beta catenins|Wnt enhanceosome complex"

Locus Type

gene with protein product

Location

3p22.1

Ensembl

ENSG00000168036

Associated Conditions (61)

Inborn genetic diseases

CTNNB1-related disorder

CTNNB1-related syndromic intellectual disability

Severe intellectual disability-progressive spastic diplegia syndrome

Desmoid tumor caused by somatic mutation

Hepatoblastoma

Atypical endometrial hyperplasia

Desmoid tumor

7 conditions

Neoplasm

Medulloblastoma non-WNT/non-SHH

Adrenal cortex carcinoma

Adamantinous craniopharyngioma

Calcifying nested epithelial stromal tumor of the liver

Embryonal rhabdomyosarcoma

Pilomatrixoma

Desmoid disease

hereditary

Solid pseudopapillary neoplasm of the pancreas

Embryonal tumor with multilayered rosettes

+41 more conditions

Key Variants

RS1057521882

Conflicting classifications of pathogenicity

Health Risk

RS138501547

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS139158008

Conflicting classifications of pathogenicity

Health Risk

RS147382769

Conflicting classifications of pathogenicity

Health Risk

RS200968230

Conflicting classifications of pathogenicity

Health Risk

RS2078362860

Conflicting classifications of pathogenicity

Health Risk

RS2125640126

Conflicting classifications of pathogenicity

Health Risk

RS2125653590

Conflicting classifications of pathogenicity

Health Risk

RS369771822

Conflicting classifications of pathogenicity

Health Risk

RS373158451

Conflicting classifications of pathogenicity

Health Risk

RS5743392

Conflicting classifications of pathogenicity

Health Risk

RS748781625

Conflicting classifications of pathogenicity

Health Risk

All Variants (205)

RSID	Category	Clinical Significance	Conditions
RS121913396	Health Risk	Pathogenic/Likely pathogenic	Pilomatrixoma, Sertoli-Leydig cell tumor, Sertoli cell tumor
RS121913407	Health Risk	Pathogenic/Likely pathogenic	Hepatocellular carcinoma, Neoplasm, Desmoid tumor
RS2470829140	Health Risk	Pathogenic/Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS748294403	Health Risk	Pathogenic/Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Global developmental delay, CTNNB1-related disorder
RS797044875	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, Severe intellectual disability-progressive spastic diplegia syndrome, CTNNB1-related disorder

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