CTNNA2: Catenin Alpha 2
A key component of the adherens junction complex, involved in cell-cell adhesion and neuronal development.
Gene Information Card
| Symbol | CTNNA2 |
|---|---|
| Full Name | Catenin Alpha 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p12-p11.2 |
| NCBI Gene ID | 1496 ncbi.nlm.nih.gov/gene/1496 |
| Ensembl ID | ENSG00000116032 |
| UniProt ID | P26232 |
| OMIM ID | 114025 |
| HGNC ID | 2510 |
| Aliases | CAPR, CTNNA2, alpha N-catenin, Catenin (cadherin-associated protein), alpha 2 |
Description
CTNNA2 encodes alpha-2 catenin, a member of the vinculin/alpha-catenin family. This protein is a component of the adherens junction complex, linking cadherins to the actin cytoskeleton. It plays a critical role in cell-cell adhesion, neuronal migration, and synaptic plasticity. Mutations in CTNNA2 are associated with neurodevelopmental disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations disrupt neuronal migration and adhesion | ClinVar, OMIM |
| Colorectal cancer | Reduced expression or loss of heterozygosity promotes invasion and metastasis | COSMIC, NCBI |
| Breast cancer | Altered expression correlates with poor prognosis | COSMIC, NCBI |
| Lung cancer | Somatic mutations and copy number alterations | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.3 | Medium |
| Skeletal Muscle | 6.1 | Medium |
| Lung | 2.4 | Low |
| Colon | 1.8 | Low |
| Breast | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression |
| HCT116 (colorectal carcinoma) | 3.5 | Moderate expression |
| MCF7 (breast cancer) | 2.0 | Low expression |
| A549 (lung cancer) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function, truncation |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Loss of function |
| c.2101G>A (p.Gly701Arg) | Missense | <0.1% | Unknown significance |
| c.3456+1G>A | Splice site | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice site mutations leading to truncated or absent protein, impairing cell adhesion and neuronal migration.
Gain of Function (GOF)
Not well characterized; no common gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the dimerization domain may interfere with wild-type protein function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • adherens junction (GO:0005912) | • cell adhesion (GO:0007155) |
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • actin cytoskeleton (GO:0015629) | • neuron migration (GO:0001764) |
Pathways
• Cell adhesion molecules (CAMs) - KEGG hsa04514
• Adherens junction - KEGG hsa04520
• Wnt signaling pathway - KEGG hsa04310
Protein Summary
Alpha-2 catenin (UniProt P26232) is a 953-amino acid protein that forms a complex with beta-catenin and cadherins at adherens junctions. It contains an N-terminal beta-catenin binding domain, a central M-domain, and a C-terminal actin-binding domain. The protein regulates actin polymerization and stabilizes cell-cell contacts. In neurons, it is essential for dendritic spine morphogenesis and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTNNA2 Knockout HEK293 Cell Line | EDJ-KQ1412 | Human | 1496 | Details Get a Quote |
| CTNNA2 Knockout HeLa Cell Line | EDJ-KQ53024 | Human | 1496 | Details Get a Quote |
| CTNNA2 Knockout A-549 Cell Line | EDJ-KQ61488 | Human | 1496 | Details Get a Quote |
| CTNNA2 Knockout HCT 116 Cell Line | EDJ-KQ69983 | Human | 1496 | Details Get a Quote |
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