Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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29119 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Catenin alpha 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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CTNNA3 |
SynonymsGene synonyms aliases
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ARVD13, VR22 |
ChromosomeChromosome number
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10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q21.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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. [provided by RefSeq, Mar 2014] |
SNPsSNP information provided by dbSNP.
|
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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
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 |
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Sequence |
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Sequence length |
895 |
Interactions |
View interactions |