CTNNB1 Chromosome 3

Catenin beta 1

205 variants 205 Health Risk

Upload your DNA to see your personal genotypes for variants in CTNNB1.

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
RS2078159952	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2078160204	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2078160286	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078160335	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078161525	Health Risk	Pathogenic	—
RS2078162308	Health Risk	Pathogenic	—
RS2078196892	Health Risk	Pathogenic	Intellectual disability, Intellectual disability
RS2078198486	Health Risk	Pathogenic	—
RS2078201673	Health Risk	Pathogenic	Inborn genetic diseases, Colorectal cancer, Inborn genetic diseases
RS2078377820	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2078435023	Health Risk	Pathogenic	Exudative vitreoretinopathy 7, Exudative vitreoretinopathy 7
RS2078435846	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2078436466	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078441559	Health Risk	Pathogenic	—
RS2125616991	Health Risk	Pathogenic	—
RS2125617589	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125617859	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125617982	Health Risk	Pathogenic	—
RS2125619545	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125619553	Health Risk	Pathogenic	Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2125620428	Health Risk	Pathogenic	—
RS2125620433	Health Risk	Pathogenic	—
RS2125620755	Health Risk	Pathogenic	—
RS2125621297	Health Risk	Pathogenic	—
RS2125622579	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125623075	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125623360	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125623951	Health Risk	Pathogenic	Colorectal cancer, Severe intellectual disability-progressive spastic diplegia syndrome, Colorectal cancer
RS2125624259	Health Risk	Pathogenic	—
RS2125628072	Health Risk	Pathogenic	—
RS2125637461	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125637783	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2125637830	Health Risk	Pathogenic	—
RS2125638106	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125638582	Health Risk	Pathogenic	—
RS2125639190	Health Risk	Pathogenic	—
RS2125639278	Health Risk	Pathogenic	—
RS2125639718	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125640624	Health Risk	Pathogenic	—
RS2125640691	Health Risk	Pathogenic	Neurodevelopmental delay, Neurodevelopmental delay
RS2125640705	Health Risk	Pathogenic	—
RS2125640866	Health Risk	Pathogenic	—
RS2125641801	Health Risk	Pathogenic	—
RS2125644619	Health Risk	Pathogenic	—
RS2125644627	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125645038	Health Risk	Pathogenic	—
RS2125646219	Health Risk	Pathogenic	—
RS2125647138	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125652997	Health Risk	Pathogenic	—
RS2125653005	Health Risk	Pathogenic	—

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