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
RS1057521882	Health Risk	Conflicting classifications of pathogenicity	—
RS138501547	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS139158008	Health Risk	Conflicting classifications of pathogenicity	—
RS147382769	Health Risk	Conflicting classifications of pathogenicity	CTNNB1-related disorder, Inborn genetic diseases, CTNNB1-related disorder
RS200968230	Health Risk	Conflicting classifications of pathogenicity	—
RS2078362860	Health Risk	Conflicting classifications of pathogenicity	—
RS2125640126	Health Risk	Conflicting classifications of pathogenicity	CTNNB1-related syndromic intellectual disability, CTNNB1-related syndromic intellectual disability
RS2125653590	Health Risk	Conflicting classifications of pathogenicity	—
RS369771822	Health Risk	Conflicting classifications of pathogenicity	—
RS373158451	Health Risk	Conflicting classifications of pathogenicity	—
RS5743392	Health Risk	Conflicting classifications of pathogenicity	CTNNB1-related disorder, CTNNB1-related disorder
RS748781625	Health Risk	Conflicting classifications of pathogenicity	—
RS764576683	Health Risk	Conflicting classifications of pathogenicity	—
RS769203968	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS772401455	Health Risk	Conflicting classifications of pathogenicity	—
RS797045504	Health Risk	Conflicting classifications of pathogenicity	—
RS1064796240	Health Risk	Likely pathogenic	—
RS1131691585	Health Risk	Likely pathogenic	—
RS1212452748	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS121913412	Health Risk	Likely pathogenic	Desmoid tumor caused by somatic mutation, Hepatoblastoma, Atypical endometrial hyperplasia
RS121913413	Health Risk	Likely pathogenic	Pilomatrixoma, Desmoid disease, hereditary
RS1553631770	Health Risk	Likely pathogenic	Inborn genetic diseases, Exudative vitreoretinopathy 7, Inborn genetic diseases
RS1553632357	Health Risk	Likely pathogenic	Microcephaly, Imperforate anus, Teratoma
RS1559470315	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1559477241	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, CTNNB1-related disorder, Severe intellectual disability-progressive spastic diplegia syndrome
RS1575330336	Health Risk	Likely pathogenic	Hepatocellular carcinoma, Hepatocellular carcinoma
RS1575339920	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078356915	Health Risk	Likely pathogenic	CTNNB1-related syndromic intellectual disability, CTNNB1-related syndromic intellectual disability
RS2078362215	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078362331	Health Risk	Likely pathogenic	Colorectal cancer, Colorectal cancer
RS2078513943	Health Risk	Likely pathogenic	Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2125619523	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125623412	Health Risk	Likely pathogenic	See cases, See cases
RS2125624969	Health Risk	Likely pathogenic	—
RS2125628162	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125628404	Health Risk	Likely pathogenic	—
RS2125638080	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125638578	Health Risk	Likely pathogenic	—
RS2125644658	Health Risk	Likely pathogenic	—
RS2125645060	Health Risk	Likely pathogenic	Abnormality of the nervous system, Abnormality of the nervous system
RS2125645129	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125646355	Health Risk	Likely pathogenic	CTNNB1-related disorder, CTNNB1-related disorder
RS2125650519	Health Risk	Likely pathogenic	—
RS2470784557	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470791025	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470829269	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470842274	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2470850103	Health Risk	Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS863224864	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS878960699	Health Risk	Likely pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome

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