CTNNA3 (catenin alpha 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29119
Gene name Gene Name - the full gene name approved by the HGNC.
Catenin alpha 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTNNA3
Synonyms (NCBI Gene) Gene synonyms aliases
ARVD13, VR22
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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. Alte
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs187752783 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, genic downstream transcript variant
rs587777134 A>T Pathogenic Coding sequence variant, genic upstream transcript variant, missense variant
rs587777135 CAA>- Pathogenic Coding sequence variant, inframe deletion, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(73)
miRTarBase ID miRNA Experiments Reference
MIRT643582 hsa-miR-548ae-3p HITS-CLIP 23824327
MIRT643581 hsa-miR-548ah-3p HITS-CLIP 23824327
MIRT643580 hsa-miR-548aj-3p HITS-CLIP 23824327
MIRT643579 hsa-miR-548am-3p HITS-CLIP 23824327
MIRT643578 hsa-miR-548aq-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11590244, 22190034, 23136403, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005912 Component Adherens junction IBA
GO:0005912 Component Adherens junction IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607667 2511 ENSG00000183230
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UI47
Protein name Catenin alpha-3 (Alpha T-catenin) (Cadherin-associated protein)
Protein function May be involved in formation of stretch-resistant cell-cell adhesion complexes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01044 Vinculin 17 → 334 Vinculin family Family
PF01044 Vinculin 328 → 856 Vinculin family Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in heart and testis. Expressed at lower levels in brain, kidney, liver and skeletal muscle. {ECO:0000269|PubMed:11590244}.
Sequence 
MSAETPITLNIDPQDLQVQTFTVEKLLEPLIIQVTTLVNCPQNPSSRKKGRSKRASVLLA
SVEEATWNLLDKGEKIAQEATVLKDELTASLEEVRKESEALKVSAERFTDDPCFLPKREA
VVQAARALLAAVTRLLILADMIDVMCLLQHVSAFQRTFESLKNVANKSDLQKTYQKLGKE
LENLDYLAFKRQQDLKSPNQRDEIAGARASLKENSPLLHSICSACLEHSDVASLKASKDT
VCEEIQNALNVISNASQGIQNMTTPPEPQAATLGSALDELENLIVLNPLTVTEEEIRPSL
EKRLEAIISGAALLADSSCTRDLHRERIIAECNAIRQALQDLLSEYMNNAGKKERSNTLN
IALDNMCKKTRDLRRQLRKAIIDHVSDSFLDTTVPLLVLIEAAKNGREKEIKEYAAIFHE
HTSRLVEVANLACSMSTNEDGIKIVKIAANHLETLCPQIINAALALAARPKSQAVKNTME
MYKRTWENHIHVLTEAVDDITSIDDFLAVSESHILEDVNKCIIALRDQDADNLDRAAGAI
RGRAARVAHIVTGEMDSYEPGAYTEGVMRNVNFLTSTVIPEFVTQVNVALEALSKSSLNV
LDDNQFVDISKKIYDTIHDIRCSVMMIRTPEELEDVSDLEEEHEVRSHTSIQTEGKTDRA
KMTQLPEAEKEKIAEQVADFKKVKSKLDAEIEIWDDTSNDIIVLAKNMCMIMMEMTDFTR
GKGPLKHTTDVIYAAKMISESGSRMDVLARQIANQCPDPSCKQDLLAYLEQIKFYSHQLK
ICSQVKAEIQNLGGELIMSALDSVTSLIQAAKNLMNAVVQTVKMSYIASTKIIRIQSPAG
PRHPVVMWRMKAPAKKPLIKREKPEETCAAVRRGSAKKKIHPLQVMSEFRGRQIY
Sequence length 895
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Hippo signaling pathway
Adherens junction
Leukocyte transendothelial migration
Bacterial invasion of epithelial cells
Pathways in cancer
Endometrial cancer
Gastric cancer
Arrhythmogenic right ventricular cardiomyopathy 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 13 rs587777134, rs587777135 N/A
arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy rs587777135 N/A
Show/Hide Unknown Diseases (18)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Astrocytoma Astrocytoma N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Breast Cancer Postmenopausal breast cancer, Breast cancer N/A N/A GWAS
Bronchopulmonary Dysplasia Bronchopulmonary dysplasia N/A N/A GWAS
Show/Hide Text Mining Associations (38)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 27765635
Alcoholism Associate 24890784
Alzheimer Disease Associate 14559775, 16199552, 17209133, 23978990
Aortic Aneurysm Thoracic Associate 34469433
Apraxias Associate 22738016
Arrhythmias Cardiac Associate 33497884
Arrhythmogenic Right Ventricular Dysplasia Associate 25837155, 33497884
Arrhythmogenic Right Ventricular Dysplasia Inhibit 35628349
Asthma Associate 22977168, 26073756
Asthma Occupational Associate 22977168