CTNND2 Gene Summary [Human]
This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
Details
| Type | Protein Coding |
| Official Symbol | CTNND2 |
| Official Name | catenin delta 2 [Source:HGNC Symbol;Acc:HGNC:2516] |
| Ensembl ID | ENSG00000169862 |
| Bio databases IDs | |
| Aliases | catenin delta 2, neural plakophilin-related arm-repeat protein, neurojungin |
| Synonyms | catenin delta 2, catenin δ 2, CATND2, delta-CATENIN, GT24, neurojugin, NPRAP, δ-CATENIN |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CTNND2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- N-cadherin binding domain
- Armadillo/beta-catenin-like repeat
- beta-catenin binding
- Armadillo/beta-catenin-like repeats
- protein binding
- structural molecule
- PDZ binding motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- androgenic alopecia
- epithelial cancer
- corneal astigmatism
- drusen
- pelvic organ prolapse
- adenoid cystic carcinoma of salivary gland
- salivary gland cancer
- hereditary disorder
- idiopathic scoliosis
- asthma
role in cell
- proliferation
- growth
- morphology
- formation
- adhesion
- invasion
- branching
- density
- organization
- length
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- Cytoplasm
- cell periphery
- apical compartment
- cell-cell contacts
- lateral plasma membrane
- synaptosomes
- synapse
- anchoring junction
- cellular protrusions
- perikaryon
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CTNND2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- synapse organization
- regulation of canonical Wnt receptor signaling pathway
- Wnt receptor signaling pathway
- cell adhesion
- dendritic spine morphogenesis
Cellular Component
Where in the cell the gene product is active
- dendrite
- nucleus
- postsynaptic density
- adherens junction
- cytoplasm
- perikaryon
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- cadherin binding
- beta-catenin binding