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GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CTNNB1
catenin beta 1
Chromosome 3 · 3p22.1
NCBI Gene: 1499Ensembl: ENSG00000168036.19HGNC: HGNC:2514UniProt: B4DGU4
3,365PubMed Papers
27Diseases
1Drugs
242Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedLandmark GeneTrendingVariant-Rich
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of protein localization to cell surfacecanonical Wnt signaling pathwaymesenchymal to epithelial transitionkinase bindingsevere intellectual disability-progressive spastic diplegia syndromePilomatrixomahepatocellular carcinomaFamilial exudative vitreoretinopathy
✦AI Summary

CTNNB1 encodes β-catenin, a key downstream effector of canonical Wnt signaling 1. In the absence of Wnt ligands, CTNNB1 forms a destruction complex with AXIN1, APC, GSK3B, and other proteins that phosphorylates and ubiquitinates CTNNB1, leading to proteasomal degradation 1. Upon Wnt stimulation, CTNNB1 escapes degradation, accumulates in the nucleus, and acts as a coactivator for TCF/LEF transcription factors to activate Wnt-responsive genes 1. Beyond canonical Wnt signaling, CTNNB1 functions in cell adhesion as a component of E-cadherin complexes and regulates epithelial-mesenchymal transitions 2. CTNNB1 also acts as a negative regulator of centrosome cohesion and inhibits anoikis in malignant epithelial cells 34. CTNNB1 mutations contribute significantly to human malignancies. Aberrant CTNNB1 activation drives hepatocellular carcinoma development, with mutations conferring distinct phenotypes including low proliferation but immune exclusion 5. In endometrial cancer, CTNNB1 mutations alter Wnt pathway signaling to deregulate cell cycle genes, paradoxically showing low-risk histology but worse recurrence and survival outcomes 6. Heterozygous CTNNB1 mutations cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV), characterized by developmental delay and microcephaly 7. CTNNB1 mutations are also identified in diverse tumors including glomangiopericytoma and superficial fibromas 89.

Sources cited
1
CTNNB1 encodes β-catenin, a key downstream effector of canonical Wnt signaling .
PMID: 17524503
2
Beyond canonical Wnt signaling, CTNNB1 functions in cell adhesion as a component of E-cadherin complexes and regulates epithelial-mesenchymal transitions .
PMID: 29910125
3
CTNNB1 also acts as a negative regulator of centrosome cohesion and inhibits anoikis in malignant epithelial cells , .
PMID: 18086858
4
CTNNB1 also acts as a negative regulator of centrosome cohesion and inhibits anoikis in malignant epithelial cells , .
PMID: 18957423
5
Aberrant CTNNB1 activation drives hepatocellular carcinoma development, with mutations conferring distinct phenotypes including low proliferation but immune exclusion .
PMID: 39261716
6
In endometrial cancer, CTNNB1 mutations alter Wnt pathway signaling to deregulate cell cycle genes, paradoxically showing low-risk histology but worse recurrence and survival outcomes .
PMID: 35531470
7
Heterozygous CTNNB1 mutations cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV), characterized by developmental delay and microcephaly .
PMID: 38364504
8
CTNNB1 mutations are also identified in diverse tumors including glomangiopericytoma and superficial fibromas , .
PMID: 37723085
9
CTNNB1 mutations are also identified in diverse tumors including glomangiopericytoma and superficial fibromas , .
PMID: 38757718
Disease Associationsⓘ27
severe intellectual disability-progressive spastic diplegia syndromeOpen Targets
0.81Strong
PilomatrixomaOpen Targets
0.79Strong
hepatocellular carcinomaOpen Targets
0.78Strong
Familial exudative vitreoretinopathyOpen Targets
0.74Strong
medulloblastomaOpen Targets
0.73Strong
ovarian cancerOpen Targets
0.62Moderate
colorectal cancerOpen Targets
0.61Moderate
ovarian neoplasmOpen Targets
0.60Moderate
HepatoblastomaOpen Targets
0.58Moderate
prostate adenocarcinomaOpen Targets
0.55Moderate
cancerOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.55Moderate
listeriosisOpen Targets
0.54Moderate
adrenal cortex carcinomaOpen Targets
0.54Moderate
colon carcinomaOpen Targets
0.52Moderate
Intellectual disabilityOpen Targets
0.52Moderate
endometrial cancerOpen Targets
0.51Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
urinary bladder carcinomaOpen Targets
0.49Moderate
non-small cell lung carcinomaOpen Targets
0.47Moderate
Colorectal cancerUniProt
MedulloblastomaUniProt
Mesothelioma, malignantUniProt
Neurodevelopmental disorder with spastic diplegia and visual defectsUniProt
Ovarian cancerUniProt
PilomatrixomaUniProt
Vitreoretinopathy, exudative 7UniProt
Pathogenic Variants242
NM_001904.4(CTNNB1):c.696dup (p.Lys233Ter)Pathogenic
not provided|Severe intellectual disability-progressive spastic diplegia syndrome
★★☆☆2026→ Residue 233
NM_001904.4(CTNNB1):c.1081+1G>TPathogenic
not provided|Colorectal cancer
★★☆☆2026
NM_001904.4(CTNNB1):c.865_869del (p.Thr289fs)Pathogenic
CTNNB1-related disorder|Severe intellectual disability-progressive spastic diplegia syndrome|not provided
★★☆☆2025→ Residue 289
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)Pathogenic
Severe intellectual disability-progressive spastic diplegia syndrome|not provided|Neurodevelopmental disorder|Intellectual disability|Microcephalic primordial dwarfism, Alazami type|Developmental disorder|7 conditions
★★☆☆2025→ Residue 474
NM_001904.4(CTNNB1):c.735-1G>CPathogenic
Colorectal cancer|not provided
★★☆☆2025
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)Pathogenic
not provided|Severe intellectual disability-progressive spastic diplegia syndrome|Global developmental delay|CTNNB1-related disorder|Inborn genetic diseases
★★☆☆2025→ Residue 661
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)Pathogenic
not provided|Severe intellectual disability-progressive spastic diplegia syndrome|Inborn genetic diseases|7 conditions|CTNNB1-related disorder
★★☆☆2025→ Residue 95
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)Pathogenic
not provided|Severe intellectual disability-progressive spastic diplegia syndrome|Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity|Intellectual disability|Exudative vitreoretinopathy 7
★★☆☆2025→ Residue 535
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter)Pathogenic
not provided|Severe intellectual disability-progressive spastic diplegia syndrome|CTNNB1-related disorder
★★☆☆2024→ Residue 333
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs)Pathogenic
not provided|Inborn genetic diseases|Severe intellectual disability-progressive spastic diplegia syndrome
★★☆☆2024→ Residue 642
NM_001904.4(CTNNB1):c.1082-1G>CPathogenic
Severe intellectual disability-progressive spastic diplegia syndrome|not provided
★★☆☆2024
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)Pathogenic
not provided|Inborn genetic diseases|Hepatocellular carcinoma
★★☆☆2024→ Residue 333
NM_001904.4(CTNNB1):c.274C>T (p.Gln92Ter)Pathogenic
not provided
★★☆☆2024→ Residue 92
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)Pathogenic
Severe intellectual disability-progressive spastic diplegia syndrome|not provided|7 conditions
★★☆☆2024→ Residue 515
NM_001904.4(CTNNB1):c.1588C>T (p.Gln530Ter)Pathogenic
Severe intellectual disability-progressive spastic diplegia syndrome
★★☆☆2024→ Residue 530
NM_001904.4(CTNNB1):c.1867C>T (p.Gln623Ter)Pathogenic
not provided
★★☆☆2024→ Residue 623
NM_001904.4(CTNNB1):c.337C>T (p.Gln113Ter)Pathogenic
not provided|Severe intellectual disability-progressive spastic diplegia syndrome
★★☆☆2024→ Residue 113
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg)Pathogenic
Inborn genetic diseases|not provided|Severe intellectual disability-progressive spastic diplegia syndrome|CTNNB1-related disorder
★★☆☆2024→ Residue 575
NM_001904.4(CTNNB1):c.1154_1155del (p.Leu385fs)Pathogenic
not provided
★★☆☆2024→ Residue 385
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)Pathogenic
not provided|Inborn genetic diseases|Severe intellectual disability-progressive spastic diplegia syndrome|Intellectual disability
★★☆☆2023→ Residue 587
View on ClinVar ↗
Drug Targets1
PRI-724Phase II
CBP/beta catenin inhibitor
cirrhosis of liver
Related Genes
ARNTProtein interaction100%ARVCFProtein interaction100%BCL9Protein interaction100%CDH3Protein interaction100%CDH5Protein interaction100%CDH11Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
50%
Lung
43%
Heart
43%
Brain
31%
Liver
27%
Gene Interaction Network
Click a node to explore
CTNNB1ARNTARVCFBCL9CDH3CDH5CDH11
PROTEIN STRUCTURE
Preparing viewer…
PDB3FQN · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.14Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.07 [0.04–0.14]
RankingsWhere CTNNB1 stands among ~20K protein-coding genes
  • #16of 20,598
    Most Researched3,365 · top 1%
  • #261of 5,498
    Most Pathogenic Variants242 · top 5%
  • #163of 17,882
    Most Constrained (LOEUF)0.14 · top 1%
Genes detectedCTNNB1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Specific features of ß-catenin-mutated hepatocellular carcinomas.
PMID: 39261716
Br J Cancer · 2024
1.00
2
Prognostic significance of
PMID: 33397129
Future Oncol · 2021
0.98
3
Histone acetylation by HBO1 (KAT7) activates Wnt/β-catenin signaling to promote leukemogenesis in B-cell acute lymphoblastic leukemia.
PMID: 37542030
Cell Death Dis · 2023
0.96
4
Desmoid-Type Fibromatosis.
PMID: 31760797
Ear Nose Throat J · 2021
0.90
5
Interleukin-7 induces MUC1.
PMID: 12750562
Cancer Biol Ther · 2003
0.80