CTNNB1 (Catenin Beta 1)
Key regulator of the Wnt signaling pathway and cell adhesion
Gene Information Card
| Symbol | CTNNB1 |
|---|---|
| Full Name | Catenin Beta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 1499 ncbi.nlm.nih.gov/gene/1499 |
| Ensembl ID | ENSG00000168036 |
| UniProt ID | P35222 |
| OMIM ID | 116806 |
| HGNC ID | 2514 |
| Aliases | beta-catenin, CTNNB, EVR7, MRD19, NEDSDV |
Description
CTNNB1 encodes beta-catenin, a dual-function protein involved in cell-cell adhesion as part of the cadherin complex and as a transcriptional coactivator in the canonical Wnt signaling pathway. Mutations in CTNNB1 are frequently oncogenic, leading to constitutive activation of Wnt target genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Activating mutations in exon 3 prevent degradation, leading to nuclear accumulation and Wnt target gene activation | COSMIC, ClinVar |
| Hepatocellular carcinoma | Similar activating mutations in CTNNB1 drive beta-catenin stabilization and proliferation | COSMIC, ClinVar |
| Desmoid tumors | CTNNB1 mutations (e.g., T41A, S45F) are hallmark drivers of tumor growth | ClinVar, OMIM |
| Medulloblastoma | Wnt-subtype medulloblastomas harbor CTNNB1 activating mutations | COSMIC, ClinVar |
| Exudative vitreoretinopathy (EVR7) | Missense mutations disrupt cell adhesion and Wnt signaling | OMIM |
| Mental retardation, autosomal dominant 19 (MRD19) | De novo loss-of-function mutations cause intellectual disability and developmental delay | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Colon | 22.3 | High |
| Liver | 18.7 | Medium |
| Heart | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Kidney | 10.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.1 | High expression |
| HeLa | 20.3 | High expression |
| HCT 116 | 18.9 | High expression (mutant) |
| MCF7 | 15.6 | Medium expression |
| A549 | 12.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.121A>G (p.T41A) | Missense | Common in desmoid tumors and colorectal cancer | Stabilizes beta-catenin, prevents degradation |
| c.134C>T (p.S45F) | Missense | Frequent in colorectal and liver cancer | Constitutive activation of Wnt signaling |
| c.98C>T (p.S33F) | Missense | Observed in various cancers | Blocks phosphorylation by GSK3B |
| c.110C>T (p.S37A) | Missense | Reported in hepatocellular carcinoma | Increases beta-catenin half-life |
| c.94G>A (p.D32N) | Missense | Rare, found in endometrial cancer | Disrupts ubiquitination |
Mutation functional classification
Loss of Function (LOF)
Rare; associated with MRD19 and NEDSDV; impair cell adhesion and Wnt signaling
Gain of Function (GOF)
Common in cancers; missense mutations in exon 3 stabilize beta-catenin, leading to constitutive Wnt activation
Dominant Negative (DN)
Not well characterized for CTNNB1; most mutations are gain-of-function
View complete mutation data：
Gene Ontology (GO)
| • GO:0007155 – cell adhesion | • GO:0005912 – adherens junction |
| • GO:0008134 – transcription factor binding | • GO:0045944 – positive regulation of transcription by RNA polymerase II |
| • GO:0060070 – canonical Wnt signaling pathway | • GO:0005737 – cytoplasm |
| • GO:0005634 – nucleus |
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Adherens junction (KEGG: hsa04520)
• Hippo signaling pathway (KEGG: hsa04390)
• Colorectal cancer (KEGG: hsa05210)
• Hepatocellular carcinoma (KEGG: hsa05225)
Protein Summary
Beta-catenin is a 781-amino acid protein with central armadillo repeats that mediate interactions with cadherins, TCF/LEF transcription factors, and other partners. In the absence of Wnt, beta-catenin is phosphorylated by GSK3B and degraded. Wnt signaling or mutations in the N-terminal domain stabilize beta-catenin, allowing nuclear translocation and activation of target genes such as MYC and CCND1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTNNB1 Knockout HCT 116 Cell Line | EDJ-KQ22 | Human | 1499 | Details Get a Quote |
| CTNNB1 Knockout HEK293 Cell Line | EDC07547 | Human | 1499 | Details Get a Quote |
| CTNNB1 Knockout A-549 Cell Line | EDJ-KQ17963 | Human | 1499 | Details Get a Quote |
| CTNNB1 Knockout HeLa Cell Line | EDJ-KQ18136 | Human | 1499 | Details Get a Quote |
| CTNNB1 (p.S45del) Point Mutation in HAP1 Cell Line | EDC03634 | Human | 1499 | Details Get a Quote |
| CTNNB1 (p.S33Y) Point Mutation in HAP1 Cell Line | EDC03635 | Human | 1499 | Details Get a Quote |
| CTNNB1 (p.S33C) Point Mutation in HAP1 Cell Line | EDC03636 | Human | 1499 | Details Get a Quote |
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