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
RS1057519379	Health Risk	Pathogenic	Exudative vitreoretinopathy 1, Severe intellectual disability-progressive spastic diplegia syndrome, Exudative vitreoretinopathy 1
RS1057519380	Health Risk	Pathogenic	Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 7, Exudative vitreoretinopathy 1
RS1057520556	Health Risk	Pathogenic	—
RS1057520730	Health Risk	Pathogenic	—
RS1064793509	Health Risk	Pathogenic	—
RS1064793948	Health Risk	Pathogenic	—
RS1064796646	Health Risk	Pathogenic	—
RS1131691736	Health Risk	Pathogenic	—
RS1131692181	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS121913399	Health Risk	Pathogenic	Malignant tumor of urinary bladder, Adamantinous craniopharyngioma, Solid pseudopapillary neoplasm of the pancreas
RS121913403	Health Risk	Pathogenic	Ovarian neoplasm, Pilomatrixoma, Embryonal tumor with multilayered rosettes
RS1369821061	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Inborn genetic diseases, Severe intellectual disability-progressive spastic diplegia syndrome
RS1454068577	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1553630279	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1553630304	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1553630458	Health Risk	Pathogenic	—
RS1553630472	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1553630507	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1553630789	Health Risk	Pathogenic	—
RS1553630795	Health Risk	Pathogenic	—
RS1553631783	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1553631845	Health Risk	Pathogenic	—
RS1553631860	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Neurodevelopmental disorder, Intellectual disability
RS1553631896	Health Risk	Pathogenic	Hepatocellular carcinoma, Hepatocellular carcinoma
RS1553632001	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1553632361	Health Risk	Pathogenic	Inborn genetic diseases, Severe intellectual disability-progressive spastic diplegia syndrome, Inborn genetic diseases
RS1553632412	Health Risk	Pathogenic	—
RS1553632414	Health Risk	Pathogenic	—
RS1559468403	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1559474040	Health Risk	Pathogenic	—
RS1559474311	Health Risk	Pathogenic	—
RS1559474364	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1559474966	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1559478415	Health Risk	Pathogenic	—
RS1575315766	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1575316657	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1575317915	Health Risk	Pathogenic	—
RS1575320216	Health Risk	Pathogenic	Hepatocellular carcinoma, Severe intellectual disability-progressive spastic diplegia syndrome, Hepatocellular carcinoma
RS1575328856	Health Risk	Pathogenic	—
RS1575329479	Health Risk	Pathogenic	—
RS1575333081	Health Risk	Pathogenic	Intellectual disability, Intellectual disability
RS1575334103	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1575334396	Health Risk	Pathogenic	—
RS1575337368	Health Risk	Pathogenic	—
RS2078133150	Health Risk	Pathogenic	Conspicuously happy disposition, Conspicuously happy disposition
RS2078140157	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078141257	Health Risk	Pathogenic	—
RS2078141730	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078151677	Health Risk	Pathogenic	Intellectual disability, Intellectual disability
RS2078159857	Health Risk	Pathogenic	—

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