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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] See more...
Aliases for CTNNA3 Gene
Aliases for CTNNA3 Gene
External Ids for CTNNA3 Gene
- HGNC: 2511
- NCBI Entrez Gene: 29119
- Ensembl: ENSG00000183230
- OMIM®: 607667
- UniProtKB/Swiss-Prot: Q9UI47
Previous GeneCards Identifiers for CTNNA3 Gene
- GC00U990693
- GC10M067024
- GC10M067349
- GC10M067679
- GC10M061677
Summaries for CTNNA3 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]
GeneCards Summary for CTNNA3 Gene
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, Biventricular Form. Among its related pathways are Adherens junction and Remodeling of Adherens Junctions. Gene Ontology (GO) annotations related to this gene include structural molecule activity and beta-catenin binding. An important paralog of this gene is CTNNA2.
UniProtKB/Swiss-Prot Summary for CTNNA3 Gene
-
May be involved in formation of stretch-resistant cell-cell adhesion complexes.
Additional gene information for CTNNA3 Gene
- HGNC (2511)
- NCBI Entrez Gene (29119)
- Ensembl (ENSG00000183230)
- OMIM® (607667)
- UniProtKB/Swiss-Prot (Q9UI47)
- Open Targets Platform(ENSG00000183230)
- Monarch Initiative
- Alliance of Genome Resources
- Search for CTNNA3 at DataMed
- Search for CTNNA3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTNNA3 Gene
Genomics for CTNNA3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CTNNA3 Gene
| 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/Enhancer | 1.1 | EPDnew Ensembl ENCODE | 250.3 | +30.8 | 30816 | 0.8 | ZFP91 PKNOX1 DPF2 EP300 ZNF335 | lnc-DNAJC12-6 CTNNA3 piR-38351-049 LRRTM3 | |
| GH10J067696 | Promoter | 0.8 | EPDnew Ensembl | 250.7 | +0.5 | 516 | 1.4 | EZH2 | CTNNA3 piR-56759-051 LRRTM3 | |
| GH10J067697 | Enhancer | 0.7 | Ensembl ENCODE | 263.5 | -1.7 | -1684 | 1 | ZNF654 NFIC REST TRIM22 CTCF RAD21 SMC3 ZNF143 MEIS2 PKNOX1 | CTNNA3 HERC4 RPL26P27 RPL12P8 HNRNPH3 MN309174-055 DNAJC12 | |
| GH10J067606 | Enhancer | 0.7 | Ensembl ENCODE | 18.1 | +89.0 | 89016 | 2 | ZNF341 ZEB1 JUND NR2F1 GLIS1 IKZF1 FOS MTA2 DPF2 EP300 | CTNNA3 piR-48325-010 piR-33432-057 lnc-DNAJC12-6 LRRTM3 | |
| GH10J067629 | Enhancer | 0.8 | Ensembl ENCODE | 17.8 | +66.7 | 66716 | 1 | BATF IKZF1 JUNB HLF IKZF2 MTA2 EED DPF2 RUNX3 ETV6 | CTNNA3 piR-57195-037 piR-48325-010 lnc-DNAJC12-6 LRRTM3 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CTNNA3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTNNA3
- Top Transcription factor binding sites by QIAGEN in the CTNNA3 gene promoter:
-
- C/EBPalpha
- CHOP-10
- CREB
- deltaCREB
- Evi-1
- FAC1
- p53
- TBP
- TFIID
- Zic1
Genomic Locations for CTNNA3 Gene
Latest Assembly
- chr10:65,912,523-67,696,217
- (GRCh38/hg38)
- Size:
- 1,783,695 bases
- Orientation:
- Minus strand
Previous Assembly
- chr10:67,672,281-69,455,953
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 1,783,673 bases
- Orientation:
- Minus strand
- chr10:67,672,276-69,455,927
- (GRCh37/hg19 by Ensembl)
- Size:
- 1,783,652 bases
- Orientation:
- Minus strand
Genomic View for CTNNA3 Gene
Genes around CTNNA3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q21.3 by HGNC
- 10q21.3 by Entrez Gene
- 10q21.3 by Ensembl
CTNNA3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CTNNA3 Gene
Proteins for CTNNA3 Gene
-
Protein details for CTNNA3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UI47-CTNA3_HUMAN
- Recommended name:
- Catenin alpha-3
- Protein Accession:
- Q9UI47
- Q5VSR2
- Q6P056
Protein attributes for CTNNA3 Gene
- Size:
- 895 amino acids
- Molecular mass:
- 99809 Da
- Quaternary structure:
-
- Interacts with CTNNB1.
Protein Expression for CTNNA3 Gene
Post-translational modifications for CTNNA3 Gene
Other Protein References for CTNNA3 Gene
Antibodies for research
- G Biosciences Immunotag™ CTNNA3 Antibody
- Novus Biologicals Antibodies for CTNNA3
-
Abcam antibodies for CTNNA3
- Invitrogen Antibodies for CTNNA3 (AFLGC-CTNNA3)
-
Boster Bio Antibodies for CTNNA3
-
Custom Antibody ServicesProSci Antibodies for CTNNA3
-
Santa Cruz Biotechnology (SCBT) Antibodies for CTNNA3
- Sino Biological Antibodies for CTNNA3
Protein products for research
-
OriGene Purified Proteins for CTNNA3
- Search Origene for MassSpec and Protein Over-expression Lysates for CTNNA3
- Origene Custom Protein Services for CTNNA3
- antibodies-online: Show 4 available CTNNA3 Proteins ranked by validation data
- Compare Top CTNNA3 Proteins
-
Quality Products:
-
Abcam proteins for CTNNA3
Assay products for research
No data available for DME Specific Peptides for CTNNA3 Gene
Domains & Families for CTNNA3 Gene
Gene Families for CTNNA3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for CTNNA3 Gene
- InterPro:
- Blocks:
-
- Alpha-catenin signature
Suggested Antigen Peptide Sequences for CTNNA3 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA, FLJ94516, highly similar to Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), mRNA (A8K141_HUMAN)
- Cadherin-associated protein (CTNA3_HUMAN)
- Alpha-T-catenin isoform 2 (Q6XYS1_HUMAN)
- CTNNA3 protein (Q8WW10_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UI47- Family:
-
- Belongs to the vinculin/alpha-catenin family.
Function for CTNNA3 Gene
Molecular function for CTNNA3 Gene
- UniProtKB/Swiss-Prot Function:
- May be involved in formation of stretch-resistant cell-cell adhesion complexes.
Phenotypes From GWAS Catalog for CTNNA3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 11590244 |
| GO:0008013 | beta-catenin binding | IEA,IPI | 23136403 |
| GO:0045296 | cadherin binding | IEA,TAS | 11590244 |
| GO:0051015 | actin filament binding | IEA | -- |
Phenotypes for CTNNA3 Gene
- MGI mutant phenotypes for CTNNA3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CTNNA3:
Animal Models for CTNNA3 Gene
- MGI Knock Outs for CTNNA3:
-
- Ctnna3 Ctnna3<tm1.1Fvr>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CTNNA3 - Starting at $85 >
- * CTNNA3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CTNNA3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CTNNA3
-
Santa Cruz Biotechnology (SCBT) CRISPR for CTNNA3
miRNA for CTNNA3 Gene
- miRTarBase miRNAs that target CTNNA3
-
- hsa-miR-182-5p (MIRT442967)
- hsa-miR-5704 (MIRT442968)
- hsa-miR-4470 (MIRT442969)
- hsa-miR-3065-5p (MIRT442970)
- hsa-miR-3613-3p (MIRT442971)
- hsa-miR-1295b-3p (MIRT442972)
- hsa-miR-15a-3p (MIRT442973)
- hsa-miR-4717-5p (MIRT442974)
- hsa-miR-6826-3p (MIRT643565)
- hsa-miR-6891-3p (MIRT643566)
- hsa-miR-6072 (MIRT643567)
- hsa-miR-6795-3p (MIRT643568)
- hsa-miR-6887-3p (MIRT643569)
- hsa-miR-548ay-3p (MIRT643570)
- hsa-miR-548at-3p (MIRT643571)
- hsa-miR-548as-3p (MIRT643572)
- hsa-miR-548t-3p (MIRT643573)
- hsa-miR-548ap-3p (MIRT643574)
- hsa-miR-548aa (MIRT643575)
- hsa-miR-548x-3p (MIRT643576)
- hsa-miR-548j-3p (MIRT643577)
- hsa-miR-548aq-3p (MIRT643578)
- hsa-miR-548am-3p (MIRT643579)
- hsa-miR-548aj-3p (MIRT643580)
- hsa-miR-548ah-3p (MIRT643581)
- hsa-miR-548ae-3p (MIRT643582)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CTNNA3
- Browse OriGene Inhibitory RNA Products For CTNNA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNNA3
Clone products for research
- Applied Biological Materials (abm): Clones for CTNNA3 - Starting at $45 >
- * CTNNA3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG216005
- MG217583
- MG219035
- MR216005
- MR216005L3
- MR216005L4
- MR217583
- MR217583L3
- MR217583L4
- MR219035
- MR219035L3
- MR219035L4
- RC213265
- RC213265L1
- RC213265L2
- RC213265L3
- RC213265L4
- RC226241
- RC226241L1
- RC226241L2
- RC226241L3
- RC226241L4
- RC237911
- RG213265
- RG226241
- MR216005L3V
- MR216005L4V
- MR217583L3V
- MR217583L4V
- MR219035L3V
- MR219035L4V
- RC213265L1V
- RC213265L2V
- RC213265L3V
- RC213265L4V
- RC226241L1V
- RC226241L2V
- RC226241L3V
- RC226241L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CTNNA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CTNNA3
Cell Lines for research
-
Horizon Cell Lines for CTNNA3
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CTNNA3 Gene
Localization for CTNNA3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CTNNA3 Gene
- Cytoplasm, cytoskeleton. Note=Localizes to intercalated disks of cardiomyocytes and in peritubular myoid cells of testis, and colocalizes with CTNNA1 and CTNNA2. {ECO:0000269 PubMed:11590244}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 4 |
| plasma membrane | 3 |
| nucleus | 3 |
| cytosol | 3 |
| extracellular | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005912 | adherens junction | IEA | -- |
| GO:0005916 | fascia adherens | IEA,IDA | 11590244 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CTNNA3 Gene
Pathways & Interactions for CTNNA3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways | ||
| 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 | ||
| 4 | Adherens junction | ||
| 5 | Bacterial invasion of epithelial cells | ||
Pathways by source for CTNNA3 Gene
1 BioSystems pathway for CTNNA3 Gene
8 KEGG pathways for CTNNA3 Gene
3 GeneGo (Thomson Reuters) pathways for CTNNA3 Gene
- Cell adhesion_Cadherin-mediated cell adhesion
- Cell adhesion_Endothelial cell contacts by junctional mechanisms
- Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
4 R&D Systems pathways for CTNNA3 Gene
- Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways
7 Qiagen pathways for CTNNA3 Gene
- Epithelial Adherens Junctions
- Epithelial Tight Junctions
- Germ Cell-Sertoli Cell Junction Dynamics
- Molecular Mechanisms of Cancer
- Remodeling of Adherens Junctions
Interacting Proteins for CTNNA3 Gene
Selected Interacting proteins:
Q9UI47-CTNA3_HUMAN
ENSP00000389714
for CTNNA3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CTNNA3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007015 | actin filament organization | IEA | -- |
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0016477 | cell migration | IBA | 21873635 |
| 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 |
No data available for SIGNOR curated interactions for CTNNA3 Gene
Drugs & Compounds for CTNNA3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| antidepressants | Pharma | 0 |
Transcripts for CTNNA3 Gene
mRNA/cDNA for CTNNA3 Gene
- 3 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000330298 696 nts (view in UCSC)
- ENST00000373735 1083 nts (view in UCSC)
- ENST00000433211 10696 nts (view in UCSC)
- ENST00000494580 470 nts (view in UCSC)
- ENST00000545309 555 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CTNNA3 - Starting at $85 >
- * CTNNA3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CTNNA3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CTNNA3
-
Santa Cruz Biotechnology (SCBT) CRISPR for CTNNA3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CTNNA3
- Browse OriGene Inhibitory RNA Products For CTNNA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNNA3
Clone products for research
- Applied Biological Materials (abm): Clones for CTNNA3 - Starting at $45 >
- * CTNNA3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG216005
- MG217583
- MG219035
- MR216005
- MR216005L3
- MR216005L4
- MR217583
- MR217583L3
- MR217583L4
- MR219035
- MR219035L3
- MR219035L4
- RC213265
- RC213265L1
- RC213265L2
- RC213265L3
- RC213265L4
- RC226241
- RC226241L1
- RC226241L2
- RC226241L3
- RC226241L4
- RC237911
- RG213265
- RG226241
- MR216005L3V
- MR216005L4V
- MR217583L3V
- MR217583L4V
- MR219035L3V
- MR219035L4V
- RC213265L1V
- RC213265L2V
- RC213265L3V
- RC213265L4V
- RC226241L1V
- RC226241L2V
- RC226241L3V
- RC226241L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CTNNA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CTNNA3
Relevant External Links for CTNNA3 Gene
- GeneLoc Exon Structure for
- CTNNA3
Expression for CTNNA3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
mRNA differential expression in normal tissues according to GTEx for CTNNA3 Gene
This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x8.9) and Heart - Left Ventricle (x6.5).
This gene is overexpressed in Heart (25.7), Spinal cord (22.4), and Fetal heart (18.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CTNNA3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTNNA3
SOURCE GeneReport for Unigene cluster for CTNNA3 Gene:
Hs.660362mRNA Expression by UniProt/SwissProt for CTNNA3 Gene:
Q9UI47-CTNA3_HUMAN
Tissue specificity:
Predominantly expressed in heart and testis. Expressed at lower levels in brain, kidney, liver and skeletal muscle.
Evidence on tissue expression from TISSUES for CTNNA3 Gene
- Nervous system(4.4)
- Liver(4.3)
- Heart(3.7)
- Pancreas(2.8)
- Lung(2.8)
- Eye(2.8)
- Muscle(2.5)
- Intestine(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CTNNA3 Gene
Germ Layers:
- mesoderm
Systems:
- cardiovascular
Regions:
Head and neck:
- ear
Thorax:
- heart
- heart valve
General:
- blood
- blood vessel
Primer products for research
-
OriGene qPCR primer pairs for CTNNA3
Gene Expression Assays for research
No data available for Protein tissue co-expression partners for CTNNA3 Gene
Orthologs for CTNNA3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CTNNA3 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CTNNA3 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CTNNA3 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
ManyToMany | |
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
ManyToMany | |
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany | |||
| Mouse (Mus musculus) |
Mammalia | Ctnna3 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ctnna3 29 |
|
||
| Chicken (Gallus gallus) |
Aves | CTNNA3 29 30 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
ManyToMany | |
| -- 30 |
|
ManyToMany |
- Species where no ortholog for CTNNA3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
- Zebrafish (Danio rerio)
Evolution for CTNNA3 Gene
- ENSEMBL:
- Gene Tree for CTNNA3 (if available)
- TreeFam:
- Gene Tree for CTNNA3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CTNNA3: view image
- Alliance of Genome Resources:
- Additional Orthologs for CTNNA3
Paralogs for CTNNA3 Gene
Variants for CTNNA3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTNNA3 Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1000643 | Uncertain Significance: Arrhythmogenic right ventricular dysplasia, familial, 13 | 67,606,968(-) |
A/G NM_013266.4(CTNNA3):c.181T>C (p.Ser61Pro) |
MISSENSE | |
| 1002294 | Uncertain Significance: Arrhythmogenic right ventricular dysplasia, familial, 13 | 66,621,784(-) |
C/T NM_013266.4(CTNNA3):c.1282G>A (p.Val428Met) |
MISSENSE | |
| 1006536 | Uncertain Significance: Arrhythmogenic right ventricular dysplasia, familial, 13 | 65,988,690(-) |
A/T NM_013266.4(CTNNA3):c.2265+2T>A |
SPLICE_DONOR | |
| 1006879 | Uncertain Significance: Arrhythmogenic right ventricular dysplasia, familial, 13 | 66,069,401(-) |
G/A NM_013266.4(CTNNA3):c.2066C>T (p.Ala689Val) |
MISSENSE | |
| 1009070 | Uncertain Significance: Arrhythmogenic right ventricular dysplasia, familial, 13 | 66,280,580(-) |
C/A NM_013266.4(CTNNA3):c.1774G>T (p.Ala592Ser) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.26;
90.57% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CTNNA3 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTNNA3 Gene
Disorders for CTNNA3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| arrhythmogenic right ventricular dysplasia, familial, 13 |
|
|
| familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
|
|
| familial isolated arrhythmogenic ventricular dysplasia, left dominant form |
|
|
| familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
|
|
| arrhythmogenic right ventricular cardiomyopathy |
|
|
Search CTNNA3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CTNA3_HUMAN- Arrhythmogenic right ventricular dysplasia, familial, 13 (ARVD13) [MIM:615616]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269 PubMed:23136403}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for CTNNA3
- Human Genome Epidemiology Navigator
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No data available for Genatlas for CTNNA3 Gene
Publications for CTNNA3 Gene
- Assessment of the CTNNA3 gene encoding human alpha T-catenin regarding its involvement in dilated cardiomyopathy. (PMID: 12596047) Janssens B … Towbin JA (Human genetics 2003) 2 3 4 22
- Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. (PMID: 23136403) van Hengel J … Rampazzo A (European heart journal 2013) 3 4 72
- Alpha-T-catenin (CTNNA3) gene was identified as a risk variant for toluene diisocyanate-induced asthma by genome-wide association analysis. (PMID: 19187332) Kim SH … Park HS (Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2009) 3 22 40
- An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3. (PMID: 19105203) Edwards TL … Ritchie MD (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 40
- Is alpha-T catenin (VR22) an Alzheimer's disease risk gene? (PMID: 17209133) Bertram L … Tanzi RE (Journal of medical genetics 2007) 3 22 40
ExternalLinks
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