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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]
CTNNA3 (Catenin Alpha 3) is a Protein Coding gene. Diseases associated with CTNNA3 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 and Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling and Gastric cancer. Gene Ontology (GO) annotations related to this gene include structural molecule activity and beta-catenin binding. An important paralog of this gene is CTNNA1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH10J067667 | Promoter | 1 | EPDnew Ensembl | 600.3 | +30.9 | 30907 | 0.6 | FOXA1 PKNOX1 DPF2 ZNF335 SMARCA4 ZNF148 NR3C1 | lnc-DNAJC12-6 CTNNA3 piR-38351-049 LRRTM3 | |
GH10J067696 | Promoter | 0.8 | EPDnew Ensembl | 600.7 | +0.5 | 516 | 1.4 | ATF7 EZH2 | CTNNA3 piR-56759-051 LRRTM3 | |
GH10J067697 | Enhancer | 0.7 | Ensembl ENCODE | 600.7 | -1.7 | -1730 | 0.5 | CTCF REST RAD21 TRIM22 ZNF266 SMC3 NFIC ZNF654 ZNF143 MEIS2 | CTNNA3 HERC4 RPL26P27 RPL12P8 HNRNPH3 MN309174-055 DNAJC12 | |
GH10J067629 | Enhancer | 0.8 | Ensembl ENCODE | 17.8 | +66.7 | 66716 | 1 | IKZF2 EED TCF7L2 DPF2 RELB RUNX3 ESR1 IKZF1 JUNB BATF | CTNNA3 piR-57195-037 piR-48325-010 lnc-DNAJC12-6 LRRTM3 | |
GH10J067606 | Enhancer | 0.7 | Ensembl ENCODE | 18.1 | +89.0 | 89016 | 2 | ZNF341 DPF2 ZEB1 ZSCAN5C FOS JUND NR2F1 JUN GLIS1 MTA2 | CTNNA3 piR-48325-010 piR-33432-057 lnc-DNAJC12-6 LRRTM3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11590244 |
GO:0008013 | beta-catenin binding | IPI | 23136403 |
GO:0045296 | cadherin binding | IEA,TAS | 11590244 |
GO:0051015 | actin filament binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005912 | adherens junction | IEA | -- |
GO:0005916 | fascia adherens | IEA,IDA | 11590244 |
GO:0030027 | lamellipodium | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling | ||
2 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
Sertoli-Sertoli Cell Junction Dynamics
.38
|
Epithelial Tight Junctions
.36
|
3 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
4 | Adherens junction | ||
5 | Bacterial invasion of epithelial cells |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IEA | -- |
GO:0086073 | bundle of His cell-Purkinje myocyte adhesion involved in cell communication | IMP | 23136403 |
GO:0086091 | regulation of heart rate by cardiac conduction | IMP | 23136403 |
GO:0098609 | cell-cell adhesion | IEA,IPI | 11590244 |
GO:0098911 | regulation of ventricular cardiac muscle cell action potential | IMP | 23136403 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
antidepressants | Pharma | 0 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CTNNA3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CTNNA3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CTNNA3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Ctnna3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ctnna3 30 |
|
||
Chicken (Gallus gallus) |
Aves | CTNNA3 30 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638811 | Uncertain Significance: Arrhythmogenic right ventricular dysplasia, familial, 13 | 67,180,391(-) | G/A | NONSENSE | |
639930 | Uncertain Significance: Arrhythmogenic right ventricular dysplasia, familial, 13 | 66,379,274(-) | G/A | MISSENSE_VARIANT | |
641043 | Uncertain Significance: Arrhythmogenic right ventricular dysplasia, familial, 13 | 66,379,313(-) | G/C | MISSENSE_VARIANT | |
642339 | Uncertain Significance: Arrhythmogenic right ventricular dysplasia, familial, 13 | 66,069,345(-) | T/C | MISSENSE_VARIANT | |
642932 | Uncertain Significance: Arrhythmogenic right ventricular dysplasia, familial, 13 | 66,520,640(-) | A/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
arrhythmogenic right ventricular dysplasia, familial, 13 |
|
|
familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
|
|
familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
|
|
familial isolated arrhythmogenic ventricular dysplasia, left dominant form |
|
|
arrhythmogenic right ventricular cardiomyopathy |
|
|