CTNNA3 Gene Summary [Human]
This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | CTNNA3 |
| Official Name | catenin alpha 3 [Source:HGNC Symbol;Acc:HGNC:2511] |
| Ensembl ID | ENSG00000183230 |
| Bio databases IDs | |
| Aliases | catenin alpha 3, alpha-T-catenin |
| Synonyms | 4930429L08RIK, 4933408A16, AABR07044900.1, Alpha T-catenin, ARVD13, catenin alpha 3, catenin α 3, Catna3, LOC100362857, RGD1559455, RGD1562230, VR22, α T-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 CTNNA3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Vinculin family
- beta-catenin binding
- cadherin binding
- protein binding
Pathways
Biological processes and signaling networks where the CTNNA3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- schizophrenia
- migraines
- Alzheimer disease
- edema
- psoriatic arthritis
- major depression
- hypertension
- depressive disorder
- toluene diisocyanate-induced asthma
role in cell
- differentiation
- abnormal morphology
- compaction
- cell-cell adhesion
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
- Cytoplasm
- paranodes
- intercalated disks
- anchoring junction
- cell-cell adherens junctions
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CTNNA3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of heart rate by cardiac conduction
- cell migration
- bundle of His cell-Purkinje myocyte adhesion involved in cell communication
Cellular Component
Where in the cell the gene product is active
- adherens junction
- cytoskeleton
- cytoplasm
- fascia adherens
- desmosome
- lamellipodium
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- protein binding
- cadherin binding
- beta-catenin binding