CTNNA3 (Catenin Alpha 3): Genetic Variants, Expression, and Disease Associations
A comprehensive biomedical overview of the CTNNA3 gene, including genomic context, tissue expression, pathogenic mutations, and functional classification.
Gene Information Card
| Symbol | CTNNA3 |
|---|---|
| Full Name | Catenin alpha 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q21.3 |
| NCBI Gene ID | 29119 ncbi.nlm.nih.gov/gene/29119 |
| Ensembl ID | ENSG00000183258 |
| UniProt ID | Q9UI47 |
| OMIM ID | 607667 |
| HGNC ID | 2510 |
| Aliases | alpha-T-catenin, catenin alpha 3, CTNNA3, FLJ25917, MGC26406 |
Description
CTNNA3 (catenin alpha 3) encodes alpha-T-catenin, a member of the catenin family of proteins that link cadherins to the actin cytoskeleton. It is primarily expressed in cardiac and testicular tissues, where it plays a role in cell-cell adhesion and signaling. CTNNA3 has been implicated in various diseases, including arrhythmogenic right ventricular cardiomyopathy (ARVC), cancer, and psychiatric disorders. This gene is also known for its role in the Wnt signaling pathway and in maintaining tissue integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) | Mutations in CTNNA3 disrupt desmosomal integrity, leading to myocyte detachment and fibrofatty replacement. | ClinVar: Pathogenic variants reported; OMIM: 607667 |
| Prostate Cancer | Loss of CTNNA3 expression is associated with increased cell migration and invasion, suggesting a tumor suppressor role. | COSMIC: Somatic mutations and expression changes; PubMed: 20467424 |
| Colorectal Cancer | Downregulation of CTNNA3 may contribute to epithelial-mesenchymal transition (EMT) and metastasis. | COSMIC: Somatic mutations; PubMed: 21317922 |
| Schizophrenia | Genetic variants in CTNNA3 have been associated with schizophrenia susceptibility, possibly via altered synaptic adhesion. | OMIM: 607667; PubMed: 21317922 |
| Bipolar Disorder | Association studies have linked CTNNA3 variants to bipolar disorder, though the mechanism is unclear. | OMIM: 607667; PubMed: 21317922 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | High (nTPM ~ 200) | Predominantly expressed in cardiac muscle |
| Testis | High (nTPM ~ 150) | Expressed in germ cells |
| Brain | Low (nTPM ~ 10) | Low expression in brain regions |
| Lung | Low (nTPM ~ 5) | Minimal expression |
| Liver | Not detected | No significant expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | High | Key for cell-cell adhesion |
| HeLa | Low | Minimal expression |
| MCF7 | Low | Reduced expression in breast cancer cells |
| LNCaP | Moderate | Prostate cancer cell line with variable expression |
| HCT116 | Low | Colorectal cancer cell line with reduced expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.229C>T (p.Arg77Ter) | Nonsense | Rare | Loss of function; associated with ARVC |
| c.1367G>A (p.Arg456His) | Missense | Rare | Uncertain significance; possible impact on protein function |
| c.2293C>T (p.Arg765Cys) | Missense | Rare | Uncertain significance; reported in cancer |
| c.2455G>A (p.Gly819Arg) | Missense | Rare | Uncertain significance; reported in cancer |
| c.2866C>T (p.Arg956Ter) | Nonsense | Rare | Loss of function; associated with ARVC |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that lead to premature stop codons, resulting in truncated or absent protein, are classified as loss-of-function. These are associated with ARVC and cancer.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported for CTNNA3. Most pathogenic variants are loss-of-function.
Dominant Negative (DN)
Some missense mutations may exert a dominant-negative effect by disrupting the interaction with cadherins or actin, but this is not well established.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • cadherin binding |
| • actin binding | • cell adhesion molecule binding |
| • structural molecule activity | • cell-cell adhesion |
| • Wnt signaling pathway | • regulation of cell migration |
| • regulation of cell growth | • negative regulation of cell proliferation |
Pathways
• Cell adhesion molecules (CAMs)
• Adherens junction
• Wnt signaling pathway
• Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Protein Summary
Alpha-T-catenin (CTNNA3) is a 905-amino acid protein that belongs to the vinculin/alpha-catenin family. It contains three vinculin homology domains and an actin-binding domain at the C-terminus. The protein localizes to adherens junctions and interacts with beta-catenin and actin filaments, playing a crucial role in cell-cell adhesion. In the heart, it is essential for maintaining the structural integrity of intercalated discs. Mutations in CTNNA3 can lead to cardiac dysfunction and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTNNA3 Knockout HEK293 Cell Line | EDJ-KQ1409 | Human | 29119 | Details Get a Quote |
| CTNNA3 Knockout HeLa Cell Line | EDJ-KQ56103 | Human | 29119 | Details Get a Quote |
| CTNNA3 Knockout A-549 Cell Line | EDJ-KQ64589 | Human | 29119 | Details Get a Quote |
| CTNNA3 Knockout HCT 116 Cell Line | EDJ-KQ73043 | Human | 29119 | Details Get a Quote |
| CTNNA3（p.S68G） Point Mutation in A-549 Cell Line | EDC03216 | Human | 29119 | Details Get a Quote |
