Gene: CTNNA3
Alternate names for this Gene: ARVD13|VR22
Gene Summary: 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.
Gene is located in Chromosome: 10
Location in Chromosome : 10q21.3
Description of this Gene: catenin alpha 3
Type of Gene: protein-coding
rs587777134 in
CTNNA3 gene and
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13
PMID 23136403 2013 Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy.
rs1670140 in
CTNNA3 gene and
Adolescent idiopathic scoliosis
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
rs75495219 in
CTNNA3 gene and
Adverse effects, not elsewhere classified
PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.
rs12356475 in
CTNNA3 gene and
Arthritis, Psoriatic
PMID 26626624 2015 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.
rs72791417 in
CTNNA3 gene and
Bronchopulmonary Dysplasia
PMID 23897914 2013 A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
rs7902091 in
CTNNA3 gene and
Cytomegalovirus Infections
PMID 23358160 2014 Significant interaction with maternal CMV infection was found for rs7902091 (P(SNP × CMV)=7.3 × 10(-7)) in CTNNA3, a gene not previously implicated in schizophrenia, stressing the importance of including environmental factors in genetic studies.
rs2441727 in
CTNNA3 gene and
Lung Diseases, Interstitial
PMID 23583980 2013 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
rs10762080 in
CTNNA3 gene and
Major Depressive Disorder
PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.
rs10823051 in
CTNNA3 gene and
Multiple Sclerosis
PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.
rs4746675 in
CTNNA3 gene and
Parkinson Disease
PMID 17052657 2006 Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
rs1670140 in
CTNNA3 gene and
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
rs7902091 in
CTNNA3 gene and
Schizophrenia
PMID 23358160 2014 Significant interaction with maternal CMV infection was found for rs7902091 (P(SNP × CMV)=7.3 × 10(-7)) in CTNNA3, a gene not previously implicated in schizophrenia, stressing the importance of including environmental factors in genetic studies.
rs533451950 in
CTNNA3 gene and
Systolic Pressure
PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
rs4746582 in
CTNNA3 gene and
mathematical ability
PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.