Function
CTNNA3 may play a role in the formation of stretch-resistant cell-cell adhesion complexes.
Gene References Into Functions
- Heterozygotes carrying both MYH7 and CTTNA3 mutations exhibited variable clinical presentations of arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy. Notably, one individual carrying double mutations in CTTNA3 and MYH7 genes did not meet the current diagnostic criteria for cardiomyopathy. PMID: 28699631
- Functional investigations suggest a possible involvement of alpha-T-catenin/CTNNA3 in the biology of peripheral nerve sheath tumors. PMID: 27765635
- Association of CTNNA3 with essential tremor. PMID: 27797806
- A meta-analysis examining CHAT, TFAM, and VR22 polymorphisms in relation to Alzheimer's disease susceptibility did not reveal significant associations for TFAM and VR22. The studied SNPs, rs10997691 and rs7070570 of VR22, were not significantly linked to AD risk. PMID: 27272392
- Loss of CTNNA3 expression is associated with hepatocellular carcinoma. PMID: 26882563
- Among the genes consistently replicated across two samples (permutated p < 0.05 in both), CTNNA3 showed promising results. The inorganic cation transmembrane transporter activity pathway (GO:0022890) was linked to antidepressant response in both samples (p = 2.9e-5 and p = 0.001 in the Korean and STAR*D samples, respectively). PMID: 27091189
- Two African-ancestry specific variants were found to be significantly associated with metabolic syndrome: SNP rs73989312[A] near CA10, which conferred increased risk, and SNP rs77244975[C] in CTNNA3, which conferred protection against this disease. PMID: 26507551
- CTNNA3 and SEMA3D: Promising loci for asthma exacerbation identified through multiple genome-wide association studies. PMID: 26073756
- This study demonstrated a correlation between copy number variations of CTNNA3 and opioid dependence. PMID: 25345593
- Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy. PMID: 26188062
- Significant interaction with maternal CMV infection was found for rs7902091 (PSNP x CMV=7.3 x 10-7) in CTNNA3, a gene not previously implicated in schizophrenia. PMID: 23358160
- These results suggest that aberrant Claudin 7, alpha-, and beta-catenin expression and/or localization patterns may be potential markers for distinguishing localized prostate cancer from aggressive metastatic disease when used collectively. PMID: 24358122
- CTNNA2 and CTNNA3 are tumor suppressor genes frequently mutated in laryngeal carcinomas. PMID: 24100690
- CTNNA3 is not a major contributor or genetic risk factor for childhood asthma but rather influences disease expression and response to therapy. PMID: 24407380
- Results suggest a causal relationship between CTNNA3 mutations and arrhythmogenic right ventricular cardiomyopathy. PMID: 23136403
- A GWAS study of diisocyanate asthma demonstrates an association between two closely linked CTNNA3 gene SNPs and diisocyanate asthma. PMID: 22977168
- A VE-cadherin-PAR3-alpha-catenin complex regulates the Golgi localization and activity of cytosolic phospholipase A(2)alpha in endothelial cells. PMID: 22398721
- Low alpha catenin is implicated in colorectal cancer metastasis. PMID: 21562850
- Beyond the complexity of its regulation, alterations in both CTNNA3 and LRTMM3 are linked to human disease. PMID: 21598020
- Our comprehensive mutation scanning did not identify any Arrhythmogenic right ventricular cardiomyopathy (ARVC) causing mutations. PMID: 21254927
- The risk allele (Y153H) of the preeclampsia susceptibility gene STOX1 negatively regulates trophoblast invasion by upregulation of the cell-cell adhesion protein a-T-catenin (CTNNA3). PMID: 20400461
- The gene is located on chromosome 10q21 and spans 1,776 kb; mutation screening of all 18 exons of the CTNNA3 gene in a family exhibiting dilated cardiomyopathy (DCM) linkage to the 10q21-q23 locus did not reveal any DCM-linked CTNNA3 mutations. PMID: 12596047
- No association was found between CTNNA3 and Alzheimer's disease in subjects showing linkage to chromosome 10, nor were these SNPs associated with Abeta deposition in the brain. Therefore, CTNNA3 is unlikely to be responsible for the susceptibility locus on chromosome 10. PMID: 15075440
- GATA-4 and MEF2C transcription factors transactivate the alphaT-catenin gene CTNNA3 in a tissue-specific manner. PMID: 15302915
- Dosage compensation of CTNNA3 and p57KIP2 in the placenta shares a conserved regulatory mechanism. PMID: 15533819
- VR22 or a nearby gene influences susceptibility to Alzheimer's disease, and the effect is dependent on APOE status. PMID: 16199552
- This is the first study to report evidence of an association between a potentially functional, non-synonymous SNP in VR22 and the risk for Alzheimer's disease. PMID: 17209133
- In conclusion, monoallelic and biallelic CTNNA3 expression patterns are demonstrable in tumor bladder tissue, whereas normal cases show only biallelic expression. PMID: 17366617
- By providing an extra link between the cadherin-catenin complex and intermediate filaments, the binding of alphaT-catenin to plakophilin-2 is proposed to be a means of modulating and strengthening cell-cell adhesion between cardiac muscle cells. PMID: 17535849
- CTNNA3 may affect late-onset Alzheimer's disease through a female-specific mechanism independent of the APOE-epsilon4 allele. PMID: 17761686
- Results suggest that multiple genetic polymorphisms of CTNNA3 may be determinants of susceptibility to toluene diisocyanate-induced asthma. PMID: 19187332
- Alpha-T catenin gene has variants that influence Abeta42 and contribute to the previously reported linkage for plasma Abeta42 in late-onset Alzheimer's disease families. PMID: 14559775
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Involvement In Disease
Arrhythmogenic right ventricular dysplasia, familial, 13 (ARVD13)
Protein Families
Vinculin/alpha-catenin family
Subcellular Location
Cytoplasm, cytoskeleton.
Tissue Specificity
Predominantly expressed in heart and testis. Expressed at lower levels in brain, kidney, liver and skeletal muscle.