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CTNNA3 (catenin alpha 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29119
Gene nameGene Name - the full gene name approved by the HGNC.
Catenin alpha 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CTNNA3
SynonymsGene synonyms aliases
ARVD13, VR22
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q21.3
SummarySummary 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. 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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT442967 hsa-miR-182-5p PAR-CLIP 22100165
MIRT442968 hsa-miR-5704 PAR-CLIP 22100165
MIRT442969 hsa-miR-4470 PAR-CLIP 22100165
MIRT442970 hsa-miR-3065-5p PAR-CLIP 22100165
MIRT442971 hsa-miR-3613-3p PAR-CLIP 22100165
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11590244, 22190034, 23136403, 25241761, 28514442
GO:0005829 Component Cytosol IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005912 Component Adherens junction IBA 21873635
GO:0005912 Component Adherens junction IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MSAETPITLNIDPQDLQVQTFTVEKLLEPLIIQVTTLVNCPQNPSSRKKGRSKRASVLLA
SVEEATWNLLDKGEKIAQEATVLKDELTASLEEVRKESEALKVSAERFTDDPCFLPKREA
VVQAARALLAAVTRLLILADMIDVMCLLQHVSAFQRTFESLKNVANKSDLQKTYQKLGKE
LENLDYLAFKRQQDLKSPNQRDEIAGARASLKENSPLLHSICSACLEHSDVASLKASKDT
VCEEIQNALNVISNASQGIQNMTTPPEPQAATLGSALDELENLIVLNPLTVTEEEIRPSL
EKRLEAIISGAALLADSSCTRDLHRER
IIAECNAIRQALQDLLSEYMNNAGKKERSNTLN
IALDNMCKKTRDLRRQLRKAIIDHVSDSFLDTTVPLLVLIEAAKNGREKEIKEYAAIFHE
HTSRLVEVANLACSMSTNEDGIKIVKIAANHLETLCPQIINAALALAARPKSQAVKNTME
MYKRTWENHIHVLTEAVDDITSIDDFLAVSESHILEDVNKCIIALRDQDADNLDRAAGAI
RGRAARVAHIVTGEMDSYEPGAYTEGVMRNVNFLTSTVIPEFVTQVNVALEALSKSSLNV
LDDNQFVDISKKIYDTIHDIRCSVMMIRTPEELEDVSDLEEEHEVRSHTSIQTEGKTDRA
KMTQLPEAEKEKIAEQVADFKKVKSKLDAEIEIWDDTSNDIIVLAKNMCMIMMEMTDFTR
GKGPLKHTTDVIYAAKMISESGSRMDVLARQIANQCPDPSCKQDLLAYLEQIKFYSHQLK
ICSQVKAEIQNLGGELIMSALDSVTSLIQAAKNLMNAVVQTVKMSYIASTKIIRIQSPAG
PRHPVVMWRMKAPAKK
PLIKREKPEETCAAVRRGSAKKKIHPLQVMSEFRGRQIY
Sequence length 895
Interactions View interactions

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