Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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catenin alpha 3(CTNNA3) catenin alpha 3(CTNNA3) Related Genes Homo sapiens
CYTOBAND 10q22.2,
GENERIF_SUMMARY gene localized on chromosome 10q21 and is 1,776 kb in length; mutation screening of all 18 exons of the CTNNA3 gene in a family showing dilated cardiomyopathy (DCM)linkage to the 10q21-q23 locus, however, has not detected any DCM-linked CTNNA3 mutations, Alpha-T catenin gene has variants which influence Abeta42 and contribute to the previously reported linkage for plasma Abeta42 in late-onset Alzheimer's disease families., We found no association between CTNNA3 and Alzheimer disease in subjects showing linkage to chromosome 10, nor were these SNPs associated with Abeta deposition in brain. CTNNA3 is unlikely to account for the susceptibility locus on chromosome 10, GATA-4 and MEF2C transcription factors transactivate the alphaT-catenin gene CTNNA3 in a tissue-specific manner., Dosage compensation of CTNNA3 and p57KIP2 in the placenta shares a conserved regulatory mechanism., VR22 or a nearby gene influences susceptibility to Alzheimer's disease, and the effect is dependent on APOE status, 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., In conclusion, monoallelic and biallelic CTNNA3 expression patterns are demonstrable in tumor bladder tissue, whereas normal cases show only biallelic expression., 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., CTNNA3 may affect late-onset Alzheimer's disease through a female-specific mechanism independent of the APOE-epsilon4 allele., Significant association with late-onset Alzheimer's disease for 4 SNPs, Results suggest that multiple genetic polymorphisms of CTNNA3 may be determinants of susceptibility to toluene diisocyanate-induced induced asthma., 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)., Our comprehensive mutation scanning did not identify any Arrhythmogenic right ventricular cardiomyopathy (ARVC) causing mutations., Low alpha catenin is involved in colorectal cancer metastasis., Apart from the complexity of its regulation, alterations in both CTNNA3 and LRTMM3 are implicated in human disease., A VE-cadherin-PAR3-alpha-catenin complex regulates the Golgi localization and activity of cytosolic phospholipase A(2)alpha in endothelial cells., Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints., GWAS study of diisocyanate asthma demonstrates an association between two closely linked CTNNA3 gene SNPs and diisocyanate asthma., Results suggest a causal relationship between CTNNA3 mutations and arrhythmogenic right ventricular cardiomyopathy, 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., CTNNA2 and CTNNA3 are tumor suppressor genes frequently mutated in laryngeal carcinomas., These results suggest aberrant Claudin 7, alpha - and beta-catenin expression and/or localisation patterns may be putative markers for distinguishing localised prostate cancer from aggressive metastatic disease when used collectively., CTNNA3 is not major contributor or genetic risk factor for childhood asthma but rather influence the disease expression and response to therapy., This study demonstrated that the copy number variations of CTNNA3 relate to opioid dependence., CTNNA3 and SEMA3D, Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy, Two African-ancestry specific variants were found to be significantly associated with metabolic syndrome S,
OMIM_DISEASE Arrhythmogenic right ventricular dysplasia, familial, 13,
SP_COMMENT function:May be involved in formation of stretch-resistant cell-cell adhesion complexes., similarity:Belongs to the vinculin/alpha-catenin family., subcellular location:Localizes to intercalated disks of cardiomyocytes and in peritubular myoid cells of testis, and colocalizes with CTNNA1 and CTNNA2., subunit:Interacts with CTNNB1., tissue specificity:Predominantly expressed in heart and testis. Expressed at lower levels in brain, kidney, liver and skeletal muscle.,