Gene
ctnnb2
- ID
- ZDB-GENE-040426-2575
- Name
- catenin, beta 2
- Symbol
- ctnnb2 Nomenclature History
- Previous Names
-
- ich
- wu:fa12h09
- wu:fc16f05
- zgc:65770
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have several functions, including alpha-catenin binding activity; cadherin binding activity; and transcription coactivator activity. Involved in canonical Wnt signaling pathway; convergent extension; and dorsal/ventral pattern formation. Localizes to nucleus. Human ortholog(s) of this gene implicated in several diseases, including autosomal dominant non-syndromic intellectual disability 19; exudative vitreoretinopathy 7; hepatocellular carcinoma (multiple); medulloblastoma; and pilomatrixoma. Is expressed in corneal endothelium; interneuromast cell; neuromast; and secondary posterior lateral line primordium. Orthologous to human CTNNB1 (catenin beta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 25 figures from 13 publications
- Cross-Species Comparison
- Alliance
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:Q8JID2
|
778 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ctnnb2-201
(1)
|
Ensembl | 3,538 nt |
Interactions and Pathways
Plasmids
No data available