Gene
ctnnb1
- ID
- ZDB-GENE-980526-362
- Name
- catenin (cadherin-associated protein), beta 1
- Symbol
- ctnnb1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Exhibits cadherin binding activity. Involved in several processes, including determination of dorsal/ventral asymmetry; glomerular filtration; and positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification. Localizes to several cellular components, including catenin complex; intercalated disc; and zonula adherens. Human ortholog(s) of this gene implicated in several diseases, including autosomal dominant non-syndromic intellectual disability 19; exudative vitreoretinopathy 7; hepatocellular carcinoma (multiple); reproductive organ cancer (multiple); and urinary system cancer (multiple). Is expressed in several structures, including EVL; adaxial cell; brain; germ ring; and gonad. Orthologous to human CTNNB1 (catenin beta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 45 figures from 38 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56048 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal dominant intellectual developmental disorder 19 | Alliance | Neurodevelopmental disorder with spastic diplegia and visual defects | 615075 |
colorectal cancer | Alliance | Colorectal cancer, somatic | 114500 |
exudative vitreoretinopathy 7 | Alliance | Exudative vitreoretinopathy 7 | 617572 |
hepatocellular carcinoma | Alliance | Hepatocellular carcinoma, somatic | 114550 |
medulloblastoma | Alliance | Medulloblastoma, somatic | 155255 |
ovarian cancer | Alliance | Ovarian cancer, somatic | 167000 |
pilomatrixoma | Alliance | Pilomatricoma, somatic | 132600 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Armadillo | Armadillo-like helical | Armadillo-type fold | Beta-catenin |
---|---|---|---|---|---|
UniProtKB:A0A5H1ZRJ2
|
789 | ||||
UniProtKB:F1QGH7
|
780 | ||||
UniProtKB:A0A8M6Z121
|
731 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
ctnnb1-201
(1)
|
Havana | 3558 nt | |
mRNA |
ctnnb1-202
(1)
|
Ensembl | 2419 nt |
Interactions and Pathways
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab3-ctnnb1 | monoclonal | IgG1 , k | Mouse |
|
Millipore
|
7 | |
Ab2-ctnnb1 | polyclonal | Rabbit |
|
Sigma-Aldrich
|
29 | ||
Ab1-ctnnb1 | monoclonal | IgG1 , k | Mouse |
|
Life Technologies (Invitrogen)
|
3 | |
Ab2-ctnnb | monoclonal | IgG1 | Mouse |
|
BD Biosciences
|
31 |
Plasmids