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FLASH GENE

Symbol

CTNNB1

contributors: shn/npt/pgu - updated : 19-10-2022

HGNC name	catenin (cadherin-associated protein), beta 1, 88kDa
HGNC id	2514

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MRD19 , EVR7

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral germinal mutation       missense mutations in exon-3 associated to histologically, a more aggressive hepatocellular carcinoma (also, mutations might lead to HCC in the absence of cirrhosis) tumoral germinal mutation       highly common in desmoid tumors (patients harboring CTNNB1 (45F) mutations are at particular risk for recurrence) tumoral somatic mutation       in ovarian malignant transformation with a characteristic phenotype: endometrioid ovarian carcinoma tumoral somatic mutation       in HNPCC tumors existed within the regulatory domain of beta-catenin tumoral     --over   beta-catenin accumulation may play a role in the development of hepatoblastoma and activating mutations may substitute biallelic APC inactivation in this tumor type tumoral germinal mutation       in pilomatricomas constitutional       loss of function of YAP1- and CTNNB1-mediated transcription blocked cell cycle reentry and progression through G1 into S phase, respectively

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive prostate CTNNB1 inhibition is a potential therapeutic option for a subset of patients with basal-derived prostate cancer (CaP) cancer endocrine pancreas CTNNB1- signalling is an effective therapeutic target for MEN1-mutant cancer lung   targeting the β-catenin pathway may provide novel strategies to prevent lung cancer development or overcome resistance to EGFR tyrosine kinase inhibitors (TKI)

ANIMAL & CELL MODELS

	deletion of exon 3 in beta -catenine mice leads to adenomatous intestinal polyps resembling those in Apc knockout mice
	Transgenic mice that overproduced an oncogenic form of beta-catenin in the epithelial cells of the kidney developed severe polycystic lesions
	inactivation of mouse beta-catenin leads to ectopic formation of chondrocytes at the expense of osteoblast differentiation during both intramembranous and endochondral ossification
	conditional inactivation of mouse beta-catenin blocks the differentiation and the development of osteoblast precursors into chondrocytes
	conditional deletion of beta-catenin in mouse proepicardium led to impaired formation of coronary arteries. Mutant mice exhibited impaired epicardial development, including failed expansion of the subepicardial space, blunted invasion of the myocardium, and impaired differentiation of epicardium-derived mesenchymal cells into coronary smooth muscle cells
	mice carrying CTNNB1 loss-of-function mutations show a delay in axonal sorting