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Aliases for CTNNA3 Gene

Aliases for CTNNA3 Gene

  • Catenin Alpha 3 2 3 5
  • Catenin (Cadherin-Associated Protein), Alpha 3 2 3
  • Cadherin-Associated Protein 4
  • Alpha-Catenin-Like Protein 3
  • Catenin Alpha-3 3
  • Alpha-T-Catenin 3
  • Alpha T-Catenin 4
  • ARVD13 3
  • VR22 3

External Ids for CTNNA3 Gene

Previous GeneCards Identifiers for CTNNA3 Gene

  • GC00U990693
  • GC10M067024
  • GC10M067349
  • GC10M067679
  • GC10M061677

Summaries for CTNNA3 Gene

Entrez Gene Summary 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 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy13. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Bacterial invasion of epithelial cells. 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 for CTNNA3 Gene

  • May be involved in formation of stretch-resistant cell-cell adhesion complexes.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTNNA3 Gene

Genomics for CTNNA3 Gene

Regulatory Elements for CTNNA3 Gene

Enhancers for CTNNA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G067606 0.7 ENCODE 18.1 +156.4 156426 1.9 JUN NR2F1 NR3C1 DPF2 ZEB1 JUND ZNF341 IKZF1 ZSCAN5C GLIS1 CTNNA3 PIR34883 AKR1B10P1
GH10G067763 1.4 Ensembl ENCODE 8.6 -0.7 -746 2.6 HDGF CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CBX5 ZNF207 CCAR1 RPL12P8 MIR1254-1 CTNNA3 TRS-TGA1-1
GH10G067770 1.1 Ensembl ENCODE 10.2 -8.4 -8430 3.2 PKNOX1 BMI1 ZBTB40 YY1 CBX5 ZNF143 RELB ETV6 IKZF2 CREM CTNNA3 SIRT1 ATOH7 TRS-TGA1-1 RPL21P92
GH10G067601 0.6 ENCODE 17.7 +160.9 160852 1.5 JUN ATF2 NR2F2 FOXA1 JUND POLR2A SMARCA4 FOS MAFK NFE2L2 CTNNA3 PIR34883 AKR1B10P1
GH10G067780 0.8 ENCODE 9.1 -16.5 -16488 0.2 GTF2F1 CTCF RB1 ARNT MAX ZNF384 ZNF2 RAD21 ZNF101 RFX5 CTNNA3 RPL21P92 TRS-TGA1-1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CTNNA3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CTNNA3 Gene

Chromosome:
10
Start:
65,912,518 bp from pter
End:
67,763,610 bp from pter
Size:
1,851,093 bases
Orientation:
Minus strand

Genomic View for CTNNA3 Gene

Genes around CTNNA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTNNA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTNNA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • Q5VSR2
    • Q6P056

    Protein attributes for CTNNA3 Gene

    Size:
    895 amino acids
    Molecular mass:
    99809 Da
    Quaternary structure:
    • Interacts with CTNNB1.

    Alternative splice isoforms for CTNNA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTNNA3 Gene

Post-translational modifications for CTNNA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CTNNA3 Gene

Domains & Families for CTNNA3 Gene

Protein Domains for CTNNA3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UI47

UniProtKB/Swiss-Prot:

CTNA3_HUMAN :
  • Belongs to the vinculin/alpha-catenin family.
Family:
  • Belongs to the vinculin/alpha-catenin family.
genes like me logo Genes that share domains with CTNNA3: view

No data available for Gene Families for CTNNA3 Gene

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.

Gene Ontology (GO) - Molecular Function for CTNNA3 Gene

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 TAS,IEA 11590244
GO:0051015 actin filament binding IEA --
GO:0086083 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication IMP 23136403
genes like me logo Genes that share ontologies with CTNNA3: view
genes like me logo Genes that share phenotypes with CTNNA3: view

Human Phenotype Ontology for CTNNA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTNNA3 Gene

MGI Knock Outs for CTNNA3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTNNA3 gene
Compartment Confidence
cytoskeleton 4
plasma membrane 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CTNNA3 Gene

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 IDA 11590244
GO:0030027 lamellipodium IEA --
genes like me logo Genes that share ontologies with CTNNA3: view

Pathways & Interactions for CTNNA3 Gene

genes like me logo Genes that share pathways with CTNNA3: view

Interacting Proteins for CTNNA3 Gene

Gene Ontology (GO) - Biological Process for CTNNA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0016337 single organismal cell-cell adhesion IPI 11590244
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:0098911 regulation of ventricular cardiac muscle cell action potential IMP 23136403
genes like me logo Genes that share ontologies with CTNNA3: view

No data available for SIGNOR curated interactions for CTNNA3 Gene

Drugs & Compounds for CTNNA3 Gene

(1) Drugs for CTNNA3 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
antidepressants Pharma 0
genes like me logo Genes that share compounds with CTNNA3: view

Transcripts for CTNNA3 Gene

Unigene Clusters for CTNNA3 Gene

Catenin (cadherin-associated protein), alpha 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTNNA3 Gene

No ASD Table

Relevant External Links for CTNNA3 Gene

GeneLoc Exon Structure for
CTNNA3
ECgene alternative splicing isoforms for
CTNNA3

Expression for CTNNA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTNNA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for CTNNA3 Gene

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



NURSA nuclear receptor signaling pathways regulating expression of CTNNA3 Gene:

CTNNA3

SOURCE GeneReport for Unigene cluster for CTNNA3 Gene:

Hs.660362

mRNA 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(4.3)
  • Liver(4.1)
  • Heart(3.4)
  • Pancreas(2.5)
  • Eye(2.3)
  • Lung(2.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTNNA3 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Organs:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with CTNNA3: view

Primer Products

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.

Orthologs for CTNNA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTNNA3 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia CTNNA3 34 35
  • 92.7 (n)
cow
(Bos Taurus)
Mammalia CTNNA3 34 35
  • 92.18 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 90 (a)
ManyToMany
-- 35
  • 88 (a)
ManyToMany
-- 35
  • 78 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
ManyToMany
-- 35
  • 85 (a)
ManyToMany
-- 35
  • 82 (a)
ManyToMany
-- 35
  • 81 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Ctnna3 34 16 35
  • 87.3 (n)
rat
(Rattus norvegicus)
Mammalia Ctnna3 34
  • 86.63 (n)
chicken
(Gallus gallus)
Aves CTNNA3 34 35
  • 78.16 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 83 (a)
ManyToMany
-- 35
  • 82 (a)
ManyToMany
Species where no ortholog for CTNNA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for CTNNA3 Gene

Paralogs for CTNNA3 Gene

(2) SIMAP similar genes for CTNNA3 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CTNNA3: view

Variants for CTNNA3 Gene

Sequence variations from dbSNP and Humsavar for CTNNA3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs587777134 Pathogenic, Arrhythmogenic right ventricular dysplasia, familial, 13 (ARVD13) [MIM:615616] 67,606,868(+) TGCGA(A/T)CTTCC reference, missense
rs587777135 Pathogenic 65,966,714(+) TAGGC(-/CAA)CAAGT cds-indel
rs750667259 Likely benign 66,069,497(+) AAAAC(-/AT)GTGAT intron-variant
rs147116577 Uncertain significance 67,539,505(+) TACAG(C/G)TGACA reference, missense
rs199697536 Uncertain significance 66,069,414(+) CTTAC(C/T)CTTTA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CTNNA3 Gene

Variant ID Type Subtype PubMed ID
dgv108n27 CNV loss 19166990
dgv109n27 CNV loss 19166990
dgv110n27 CNV loss 19166990
dgv1222n54 CNV loss 21841781
dgv1223n54 CNV loss 21841781
dgv1224n54 CNV loss 21841781
dgv1225n54 CNV loss 21841781
dgv1226n54 CNV loss 21841781
dgv1227n54 CNV loss 21841781
dgv1228n54 CNV loss 21841781
dgv1229n54 CNV loss 21841781
dgv1230n54 CNV loss 21841781
dgv1231n54 CNV loss 21841781
dgv1232n54 CNV loss 21841781
dgv1233n54 CNV loss 21841781
dgv1234n54 CNV loss 21841781
dgv1235n54 CNV loss 21841781
dgv1236n54 CNV loss 21841781
dgv1237n54 CNV loss 21841781
dgv1238n54 CNV loss 21841781
dgv1239n54 CNV loss 21841781
dgv1240n54 CNV loss 21841781
dgv1241n54 CNV loss 21841781
dgv1242n54 CNV loss 21841781
dgv1243n54 CNV loss 21841781
dgv1244n54 CNV loss 21841781
dgv1245n54 CNV loss 21841781
dgv1246n54 CNV loss 21841781
dgv1247n54 CNV loss 21841781
dgv140e214 CNV loss 21293372
dgv141e214 CNV loss 21293372
dgv142e214 CNV loss 21293372
dgv143e214 CNV loss 21293372
dgv144e214 CNV loss 21293372
dgv145e214 CNV gain 21293372
dgv146e214 CNV loss 21293372
dgv147e214 CNV loss 21293372
dgv148e199 CNV deletion 23128226
dgv148e214 CNV loss 21293372
dgv149e199 CNV deletion 23128226
dgv149e214 CNV loss 21293372
dgv250e212 CNV loss 25503493
dgv251e212 CNV loss 25503493
dgv252e212 CNV loss 25503493
dgv33e55 CNV gain 17911159
dgv37e215 CNV deletion 23714750
dgv44n21 CNV loss 19592680
dgv892n100 CNV loss 25217958
dgv893n100 CNV loss 25217958
dgv894n100 CNV loss 25217958
dgv895n100 CNV loss 25217958
dgv896n100 CNV loss 25217958
dgv897n100 CNV loss 25217958
dgv898n100 CNV loss 25217958
dgv899n100 CNV loss 25217958
dgv900n100 CNV loss 25217958
dgv901n100 CNV loss 25217958
dgv902n100 CNV loss 25217958
dgv903n100 CNV loss 25217958
dgv904n100 CNV loss 25217958
dgv905n100 CNV loss 25217958
dgv906n100 CNV loss 25217958
dgv907n100 CNV loss 25217958
dgv908n100 CNV loss 25217958
dgv909n100 CNV loss 25217958
dgv910n100 CNV loss 25217958
dgv911n100 CNV loss 25217958
dgv912n100 CNV loss 25217958
dgv913n100 CNV loss 25217958
dgv914n100 CNV loss 25217958
dgv915n100 CNV loss 25217958
dgv916n100 CNV gain 25217958
dgv917n100 CNV gain 25217958
dgv918n100 CNV gain 25217958
esv1004637 CNV deletion 20482838
esv1160727 CNV insertion 17803354
esv1277642 CNV insertion 17803354
esv23251 CNV gain 19812545
esv2422303 CNV deletion 17116639
esv2422469 CNV deletion 17116639
esv2507435 CNV insertion 19546169
esv26235 CNV gain 19812545
esv2642806 CNV deletion 19546169
esv2657064 CNV deletion 23128226
esv2659936 CNV deletion 23128226
esv2662186 CNV deletion 23128226
esv2664234 CNV deletion 23128226
esv2665258 CNV deletion 23128226
esv2670141 CNV deletion 23128226
esv2671264 CNV deletion 23128226
esv2673429 CNV deletion 23128226
esv2676584 CNV deletion 23128226
esv2677193 CNV deletion 23128226
esv2737929 CNV deletion 23290073
esv2737940 CNV deletion 23290073
esv2737951 CNV deletion 23290073
esv2737962 CNV deletion 23290073
esv2737973 CNV deletion 23290073
esv2737984 CNV deletion 23290073
esv2737995 CNV deletion 23290073
esv274901 CNV gain+loss 21479260
esv275005 CNV gain+loss 21479260
esv2750968 CNV gain 17911159
esv2750969 CNV loss 17911159
esv2750970 CNV loss 17911159
esv2750971 CNV loss 17911159
esv2759763 CNV loss 17122850
esv2760092 CNV loss 21179565
esv2760122 CNV loss 21179565
esv2760136 CNV gain 21179565
esv2760137 CNV gain 21179565
esv2760138 CNV loss 21179565
esv2761602 CNV loss 21179565
esv2763936 CNV loss 21179565
esv3304448 CNV mobile element insertion 20981092
esv3306509 CNV mobile element insertion 20981092
esv3306786 CNV mobile element insertion 20981092
esv3307352 CNV mobile element insertion 20981092
esv3324285 CNV insertion 20981092
esv3324759 CNV insertion 20981092
esv3328869 CNV insertion 20981092
esv3341785 CNV insertion 20981092
esv3359445 CNV insertion 20981092
esv3367804 CNV insertion 20981092
esv3382497 CNV insertion 20981092
esv3401494 CNV insertion 20981092
esv3407816 CNV insertion 20981092
esv3421076 CNV insertion 20981092
esv3546431 CNV deletion 23714750
esv3546434 CNV deletion 23714750
esv3546438 CNV deletion 23714750
esv3546439 CNV deletion 23714750
esv3546441 CNV deletion 23714750
esv3546445 CNV deletion 23714750
esv3578948 CNV loss 25503493
esv3578953 CNV loss 25503493
esv3578954 CNV loss 25503493
esv3578955 CNV loss 25503493
esv3578956 CNV loss 25503493
esv3578957 CNV loss 25503493
esv3578958 CNV loss 25503493
esv3578959 CNV loss 25503493
esv3578960 CNV loss 25503493
esv3578962 CNV loss 25503493
esv3578965 CNV loss 25503493
esv3623582 CNV loss 21293372
esv3623583 CNV loss 21293372
esv3623584 CNV gain 21293372
esv3623585 CNV gain 21293372
esv3623591 CNV gain 21293372
esv3623592 CNV gain 21293372
esv3623595 CNV gain 21293372
esv3623597 CNV gain 21293372
esv3623600 CNV loss 21293372
esv3623601 CNV loss 21293372
esv3623602 CNV gain 21293372
esv3623603 CNV loss 21293372
esv3623605 CNV loss 21293372
esv3623606 CNV gain 21293372
esv3623607 CNV gain 21293372
esv3623608 CNV loss 21293372
esv3623609 CNV loss 21293372
esv3623610 CNV loss 21293372
esv3623611 CNV gain 21293372
esv3623613 CNV loss 21293372
esv3623616 CNV gain 21293372
esv3623626 CNV loss 21293372
esv3623627 CNV loss 21293372
esv3623628 CNV loss 21293372
esv3623629 CNV loss 21293372
esv3623630 CNV loss 21293372
esv3623631 CNV loss 21293372
esv3623632 CNV gain 21293372
esv3623634 CNV gain 21293372
esv3623636 CNV loss 21293372
esv3623640 CNV loss 21293372
esv3623641 CNV loss 21293372
esv3623643 CNV loss 21293372
esv3623645 CNV gain 21293372
esv3623646 CNV loss 21293372
esv3623647 CNV loss 21293372
esv3623648 CNV loss 21293372
esv3623649 CNV loss 21293372
esv3623652 CNV loss 21293372
esv3623653 CNV loss 21293372
esv3623654 CNV loss 21293372
esv3623655 CNV loss 21293372
esv3623660 CNV loss 21293372
esv3623664 CNV loss 21293372
esv3623667 CNV loss 21293372
esv3623669 CNV loss 21293372
esv3623673 CNV loss 21293372
esv3623675 CNV loss 21293372
esv3623676 CNV loss 21293372
esv3623678 CNV loss 21293372
esv3623679 CNV loss 21293372
esv3623680 CNV loss 21293372
esv3623682 CNV loss 21293372
esv3623685 CNV loss 21293372
esv3623686 CNV loss 21293372
esv3623687 CNV loss 21293372
esv3623688 CNV gain 21293372
esv3623689 CNV gain 21293372
esv3623691 CNV loss 21293372
esv3891836 CNV loss 25118596
esv3891838 CNV loss 25118596
esv3891839 CNV loss 25118596
esv3891840 CNV loss 25118596
esv3891841 CNV loss 25118596
esv3891842 CNV gain 25118596
esv3891843 CNV loss 25118596
esv3891844 CNV loss 25118596
esv3891845 CNV loss 25118596
esv3891846 CNV loss 25118596
esv3891847 CNV loss 25118596
esv3891849 CNV loss 25118596
esv3891850 CNV loss 25118596
esv3891851 CNV loss 25118596
esv3891852 CNV loss 25118596
esv3891853 CNV loss 25118596
esv8542 OTHER inversion 19470904
esv989732 CNV insertion 20482838
esv994696 CNV insertion 20482838
nsv1036639 CNV loss 25217958
nsv1037295 CNV loss 25217958
nsv1037406 CNV loss 25217958
nsv1037793 CNV loss 25217958
nsv1038079 CNV loss 25217958
nsv1039028 CNV gain 25217958
nsv1040865 CNV loss 25217958
nsv1041824 CNV loss 25217958
nsv1042605 CNV gain 25217958
nsv1042819 CNV loss 25217958
nsv1043415 CNV loss 25217958
nsv1044113 CNV loss 25217958
nsv1044834 CNV loss 25217958
nsv1045134 CNV loss 25217958
nsv1045671 CNV loss 25217958
nsv1046118 CNV loss 25217958
nsv1046670 CNV loss 25217958
nsv1046776 CNV loss 25217958
nsv1047132 CNV loss 25217958
nsv1047351 CNV gain 25217958
nsv1049245 CNV loss 25217958
nsv1049367 CNV loss 25217958
nsv1050214 CNV loss 25217958
nsv1052687 CNV loss 25217958
nsv1052848 CNV loss 25217958
nsv1053242 CNV gain 25217958
nsv1054195 CNV loss 25217958
nsv1055082 CNV gain 25217958
nsv1118479 CNV duplication 24896259
nsv1122534 CNV deletion 24896259
nsv1122535 CNV deletion 24896259
nsv1125335 OTHER inversion 24896259
nsv1125503 CNV tandem duplication 24896259
nsv1134020 CNV deletion 24896259
nsv1134021 CNV deletion 24896259
nsv1148337 CNV duplication 26484159
nsv1161973 CNV deletion 26073780
nsv24302 CNV deletion 16902084
nsv433261 CNV loss 18776910
nsv442190 CNV loss 18776908
nsv467309 CNV gain 19166990
nsv467310 CNV loss 19166990
nsv467312 CNV gain 19166990
nsv467315 CNV loss 19166990
nsv467320 CNV loss 19166990
nsv467329 CNV loss 19166990
nsv467330 CNV loss 19166990
nsv467331 CNV loss 19166990
nsv467334 CNV loss 19166990
nsv467336 CNV loss 19166990
nsv467337 CNV loss 19166990
nsv467340 CNV loss 19166990
nsv467341 CNV loss 19166990
nsv467342 CNV loss 19166990
nsv467344 CNV loss 19166990
nsv467345 CNV loss 19166990
nsv467346 CNV loss 19166990
nsv467347 CNV loss 19166990
nsv467348 CNV loss 19166990
nsv467349 CNV loss 19166990
nsv467351 CNV loss 19166990
nsv467353 CNV gain 19166990
nsv467354 CNV gain 19166990
nsv470955 CNV loss 18288195
nsv470956 CNV loss 18288195
nsv470957 CNV loss 18288195
nsv470958 CNV loss 18288195
nsv470959 CNV loss 18288195
nsv470961 CNV gain 18288195
nsv474749 CNV novel sequence insertion 20440878
nsv498730 CNV loss 21111241
nsv510225 OTHER sequence alteration 20534489
nsv510226 OTHER sequence alteration 20534489
nsv514570 CNV loss 21397061
nsv515950 CNV gain+loss 19592680
nsv517024 CNV gain+loss 19592680
nsv517151 CNV loss 19592680
nsv517405 CNV loss 19592680
nsv517910 CNV loss 19592680
nsv519703 CNV loss 19592680
nsv520745 CNV gain 19592680
nsv521580 CNV gain 19592680
nsv522267 CNV loss 19592680
nsv523116 CNV gain 19592680
nsv523509 CNV loss 19592680
nsv524188 CNV loss 19592680
nsv524840 CNV loss 19592680
nsv525402 CNV loss 19592680
nsv525635 CNV loss 19592680
nsv527409 CNV loss 19592680
nsv527479 CNV gain 19592680
nsv527987 CNV loss 19592680
nsv528453 CNV loss 19592680
nsv551286 CNV loss 21841781
nsv551297 CNV loss 21841781
nsv551298 CNV gain 21841781
nsv551299 CNV loss 21841781
nsv551300 CNV gain 21841781
nsv551301 CNV loss 21841781
nsv551302 CNV loss 21841781
nsv551306 CNV loss 21841781
nsv551325 CNV loss 21841781
nsv551330 CNV loss 21841781
nsv551332 CNV loss 21841781
nsv551333 CNV loss 21841781
nsv551334 CNV loss 21841781
nsv551338 CNV loss 21841781
nsv551340 CNV loss 21841781
nsv551341 CNV loss 21841781
nsv551342 CNV loss 21841781
nsv551343 CNV loss 21841781
nsv551351 CNV loss 21841781
nsv551358 CNV loss 21841781
nsv551360 CNV loss 21841781
nsv551361 CNV loss 21841781
nsv551383 CNV loss 21841781
nsv551394 CNV loss 21841781
nsv551395 CNV loss 21841781
nsv551396 CNV loss 21841781
nsv551399 CNV loss 21841781
nsv551400 CNV loss 21841781
nsv551401 CNV loss 21841781
nsv551402 CNV loss 21841781
nsv551405 CNV loss 21841781
nsv551408 CNV loss 21841781
nsv551409 CNV loss 21841781
nsv551410 CNV loss 21841781
nsv551411 CNV loss 21841781
nsv551412 CNV loss 21841781
nsv551413 CNV gain 21841781
nsv551414 CNV loss 21841781
nsv551415 CNV loss 21841781
nsv551416 CNV gain 21841781
nsv551417 CNV loss 21841781
nsv551422 CNV loss 21841781
nsv551431 CNV loss 21841781
nsv551432 CNV gain 21841781
nsv6920 CNV insertion 18451855
nsv6931 CNV insertion 18451855
nsv6942 CNV insertion 18451855
nsv6953 CNV insertion 18451855
nsv6966 CNV deletion 18451855
nsv821050 CNV deletion 20802225
nsv825436 CNV loss 20364138
nsv831900 CNV gain 17160897
nsv831901 CNV gain 17160897
nsv831902 CNV loss 17160897
nsv831903 CNV loss 17160897
nsv831905 CNV gain 17160897
nsv831906 CNV loss 17160897
nsv8683 CNV gain 18304495
nsv948040 CNV duplication 23825009
nsv948041 CNV duplication 23825009

Variation tolerance for CTNNA3 Gene

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)

Relevant External Links for CTNNA3 Gene

Human Gene Mutation Database (HGMD)
CTNNA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTNNA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTNNA3 Gene

Disorders for CTNNA3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CTNNA3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular dysplasia, familial, 13
  • arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia/cardiomyopathy13
  • arrhythmogenic right ventricular dysplasia, familial, 13
arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular dysplasia
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
familial isolated arrhythmogenic ventricular dysplasia, left dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
- elite association - COSMIC cancer census association via MalaCards

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 mutations affecting the gene represented in this entry.

Relevant External Links for CTNNA3

Genetic Association Database (GAD)
CTNNA3
Human Genome Epidemiology (HuGE) Navigator
CTNNA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTNNA3
genes like me logo Genes that share disorders with CTNNA3: view

No data available for Genatlas for CTNNA3 Gene

Publications for CTNNA3 Gene

  1. Assessment of the CTNNA3 gene encoding human alpha T-catenin regarding its involvement in dilated cardiomyopathy. (PMID: 12596047) Janssens B. … Towbin J.A. (Hum. Genet. 2003) 2 3 4 22 64
  2. 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 T.L. … Ritchie M.D. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 22 46 64
  3. Alpha-T-catenin (CTNNA3) gene was identified as a risk variant for toluene diisocyanate-induced asthma by genome-wide association analysis. (PMID: 19187332) Kim S.H. … Park H.S. (Clin. Exp. Allergy 2009) 3 22 46 64
  4. Is alpha-T catenin (VR22) an Alzheimer's disease risk gene? (PMID: 17209133) Bertram L. … Tanzi R.E. (J. Med. Genet. 2007) 3 22 46 64
  5. Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease. (PMID: 16199552) Martin E.R. … Pericak-Vance M.A. (J. Med. Genet. 2005) 3 22 46 64

Products for CTNNA3 Gene

Sources for CTNNA3 Gene

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