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
RS2470774102	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470786532	Health Risk	Pathogenic	—
RS2470787406	Health Risk	Pathogenic	CTNNB1-related disorder, CTNNB1-related disorder
RS2470787474	Health Risk	Pathogenic	—
RS2470788264	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470790178	Health Risk	Pathogenic	CTNNB1-related disorder, Severe intellectual disability-progressive spastic diplegia syndrome, CTNNB1-related disorder
RS2470798474	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470799025	Health Risk	Pathogenic	—
RS2470825988	Health Risk	Pathogenic	—
RS2470826359	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470829028	Health Risk	Pathogenic	—
RS2470829733	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470831994	Health Risk	Pathogenic	—
RS2470835326	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470843357	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2470846924	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470846943	Health Risk	Pathogenic	—
RS2470847019	Health Risk	Pathogenic	—
RS2470847034	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2470847156	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470847228	Health Risk	Pathogenic	—
RS2470847361	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470848814	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470849092	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470849345	Health Risk	Pathogenic	—
RS2470857118	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470857313	Health Risk	Pathogenic	—
RS2470857399	Health Risk	Pathogenic	CTNNB1-related disorder, CTNNB1-related disorder
RS2470857414	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470863944	Health Risk	Pathogenic	—
RS2470864022	Health Risk	Pathogenic	—
RS28931588	Health Risk	Pathogenic	Hepatoblastoma, Pilomatrixoma, Medulloblastoma
RS376393123	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS397514554	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, 7 conditions, Severe intellectual disability-progressive spastic diplegia syndrome
RS398122907	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS587777412	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS750402920	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS758207378	Health Risk	Pathogenic	CTNNB1-related disorder, CTNNB1-related disorder
RS775104326	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Inborn genetic diseases, 7 conditions
RS778624338	Health Risk	Pathogenic	Inborn genetic diseases, Hepatocellular carcinoma, Severe intellectual disability-progressive spastic diplegia syndrome
RS864309577	Health Risk	Pathogenic	—
RS886039332	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Abnormal lung growth, pulmonary hypertension
RS886041281	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, CTNNB1-related disorder, Severe intellectual disability-progressive spastic diplegia syndrome
RS886041444	Health Risk	Pathogenic	—
RS886041553	Health Risk	Pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS121913400	Health Risk	Pathogenic; other	Carcinoma of colon, Pilomatrixoma, Adamantinous craniopharyngioma
RS121913409	Health Risk	Pathogenic; other	Hepatocellular carcinoma, Nephroblastoma, Gallbladder cancer
RS28931589	Health Risk	Pathogenic; other	Hepatoblastoma, Prostate cancer, Colorectal cancer
RS587776850	Health Risk	Pathogenic; other	Carcinoma of colon, Nephroblastoma, Neoplasm
RS1064796453	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, Severe intellectual disability-progressive spastic diplegia syndrome, Intellectual disability

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