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Aliases for CTNNA3 Gene

Aliases for CTNNA3 Gene

  • Catenin (Cadherin-Associated Protein), Alpha 3 2 3
  • ARVD13 3 6
  • Cadherin-Associated Protein 4
  • Alpha-Catenin-Like Protein 3
  • Catenin Alpha-3 3
  • Alpha-T-Catenin 3
  • Alpha T-Catenin 4
  • 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 (Cadherin-Associated Protein), 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 Pathways in cancer and ERK Signaling. GO annotations related to this gene include structural molecule activity and cadherin 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 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

Genomic Location for CTNNA3 Gene

Start:
65,912,518 bp from pter
End:
67,696,191 bp from pter
Size:
1,783,674 bases
Orientation:
Minus strand

Genomic View for CTNNA3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CTNNA3 Gene at MOPED

Post-translational modifications for CTNNA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CTNNA3 Gene

No data available for DME Specific Peptides for CTNNA3 Gene

Domains for CTNNA3 Gene

Protein Domains for CTNNA3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UI47

UniProtKB/Swiss-Prot:

CTNA3_HUMAN :
  • Q9UI47
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:0005198 structural molecule activity --
GO:0005515 protein binding IPI 11590244
GO:0008013 beta-catenin binding IPI 23136403
GO:0045296 cadherin binding TAS 11590244
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with CTNNA3: view
genes like me logo Genes that share phenotypes with CTNNA3: view

Animal Models for CTNNA3 Gene

MGI Knock Outs for CTNNA3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for CTNNA3 Gene COMPARTMENTS Subcellular localization image for CTNNA3 gene
Compartment Confidence
cytoskeleton 3
cytosol 2
nucleus 2
mitochondrion 1
peroxisome 1
plasma membrane 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 --
GO:0005916 fascia adherens IDA 11590244
GO:0015629 actin cytoskeleton --
genes like me logo Genes that share ontologies with CTNNA3: view

Pathways for CTNNA3 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for CTNNA3 Gene

Selected Interacting proteins: Q9UI47-CTNA3_HUMAN for CTNNA3 Gene via UniProtKB I2D

Gene Ontology (GO) - Biological Process for CTNNA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion --
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

Transcripts for CTNNA3 Gene

Unigene Clusters for CTNNA3 Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CTNNA3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CTNNA3

Flow Cytometry 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 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) (8.9) and Heart - Left Ventricle (6.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for CTNNA3 Gene

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.
genes like me logo Genes that share expressions with CTNNA3: view

In Situ Assay Products

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 35
  • 99.63 (n)
  • 99.55 (a)
CTNNA3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CTNNA3 35
  • 92.18 (n)
  • 95.2 (a)
CTNNA3 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTNNA3 35
  • 92.7 (n)
  • 95.87 (a)
CTNNA3 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctnna3 35
  • 87.3 (n)
  • 93.52 (a)
Ctnna3 16
Ctnna3 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 88 (a)
ManyToMany
-- 36
  • 78 (a)
ManyToMany
-- 36
  • 90 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
ManyToMany
-- 36
  • 90 (a)
ManyToMany
-- 36
  • 82 (a)
ManyToMany
-- 36
  • 85 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Ctnna3 35
  • 86.63 (n)
  • 91.73 (a)
chicken
(Gallus gallus)
Aves CTNNA3 35
  • 78.16 (n)
  • 83.76 (a)
CTNNA3 36
  • 83 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 82 (a)
ManyToMany
-- 36
  • 83 (a)
ManyToMany
Species with no ortholog for CTNNA3:
  • 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

Selected 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 MAF
rs2055 -- 67,624,783(+) ctgca(G/T)aatct intron-variant
rs17511 -- 66,319,747(-) CAAAT(C/T)GCATT intron-variant
rs137354 -- 66,386,634(+) gcatt(A/G)ccaag intron-variant
rs713250 -- 66,713,641(-) ACAGC(A/G)AGAAT intron-variant
rs713297 -- 66,683,426(-) ATTAC(A/G)AAGTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv743n71 CNV Gain 21882294
nsv831900 CNV Gain 17160897
nsv467309 CNV Gain 19166990
nsv467310 CNV Loss 19166990
esv275005 CNV Gain+Loss 21479260
esv2737929 CNV Deletion 23290073
nsv6920 CNV Insertion 18451855
esv2422303 CNV Deletion 17116639
nsv517151 CNV Loss 19592680
nsv528453 CNV Loss 19592680
esv2422469 CNV Deletion 17116639
esv2750968 CNV Gain 17911159
nsv525402 CNV Loss 19592680
nsv517910 CNV Loss 19592680
nsv467312 CNV Gain 19166990
dgv744n71 CNV Loss 21882294
nsv895597 CNV Loss 21882294
nsv895598 CNV Loss 21882294
nsv525635 CNV Loss 19592680
nsv527479 CNV Gain 19592680
nsv6931 CNV Insertion 18451855
dgv148e199 CNV Deletion 23128226
esv2507435 CNV Insertion 19546169
esv989732 CNV Insertion 20482838
esv1277642 CNV Insertion 17803354
esv2657064 CNV Deletion 23128226
nsv467315 CNV Loss 19166990
dgv745n71 CNV Loss 21882294
nsv470955 CNV Loss 18288195
nsv895600 CNV Loss 21882294
dgv108n27 CNV Loss 19166990
nsv467320 CNV Loss 19166990
dgv109n27 CNV Loss 19166990
nsv517024 CNV Gain+Loss 19592680
esv270697 CNV Insertion 20981092
esv273078 CNV Insertion 20981092
esv8542 OTHER Inversion 19470904
nsv895602 CNV Loss 21882294
dgv746n71 CNV Loss 21882294
nsv831901 CNV Gain 17160897
nsv895606 CNV Loss 21882294
dgv149e199 CNV Deletion 23128226
nsv831902 CNV Loss 17160897
dgv747n71 CNV Loss 21882294
dgv748n71 CNV Loss 21882294
nsv470956 CNV Loss 18288195
nsv895611 CNV Loss 21882294
dgv749n71 CNV Loss 21882294
esv2750969 CNV Loss 17911159
nsv895613 CNV Gain 21882294
dgv750n71 CNV Loss 21882294
nsv510225 CNV Loss 20534489
nsv519703 CNV Loss 19592680
nsv527987 CNV Loss 19592680
nsv523116 CNV Gain 19592680
esv2750970 CNV Loss 17911159
nsv895617 CNV Loss 21882294
esv269320 CNV Insertion 20981092
esv272437 CNV Insertion 20981092
nsv467329 CNV Loss 19166990
nsv895619 CNV Loss 21882294
nsv895620 CNV Loss 21882294
esv2737940 CNV Deletion 23290073
esv2737951 CNV Deletion 23290073
dgv751n71 CNV Loss 21882294
esv2750971 CNV Loss 17911159
esv270785 CNV Insertion 20981092
nsv521580 CNV Gain 19592680
nsv895622 CNV Gain 21882294
nsv467330 CNV Loss 19166990
nsv895624 CNV Loss 21882294
dgv752n71 CNV Loss 21882294
dgv753n71 CNV Loss 21882294
nsv467331 CNV Loss 19166990
nsv517405 CNV Loss 19592680
dgv110n27 CNV Loss 19166990
nsv514570 CNV Loss 21397061
nsv442190 CNV CNV 18776908
nsv470957 CNV Loss 18288195
nsv467334 CNV Loss 19166990
dgv754n71 CNV Loss 21882294
dgv755n71 CNV Loss 21882294
nsv895635 CNV Loss 21882294
nsv895636 CNV Gain 21882294
esv2673429 CNV Deletion 23128226
dgv756n71 CNV Loss 21882294
dgv757n71 CNV Loss 21882294
nsv895642 CNV Loss 21882294
essv1339 CNV CNV 17122850
dgv295e1 CNV Complex 17122850
nsv825436 CNV Loss 20364138
esv2659936 CNV Deletion 23128226
esv271628 CNV Insertion 20981092
nsv467336 CNV Loss 19166990
esv2665258 CNV Deletion 23128226
esv2677193 CNV Deletion 23128226
nsv895644 CNV Loss 21882294
nsv467337 CNV Loss 19166990
dgv758n71 CNV Loss 21882294
nsv467340 CNV Loss 19166990
dgv759n71 CNV Loss 21882294
nsv467341 CNV Loss 19166990
esv271062 CNV Insertion 20981092
esv1160727 CNV Insertion 17803354
nsv6942 CNV Insertion 18451855
esv2664234 CNV Deletion 23128226
nsv895650 CNV Loss 21882294
nsv831903 CNV Loss 17160897
nsv895652 CNV Loss 21882294
nsv467342 CNV Loss 19166990
nsv895653 CNV Loss 21882294
esv2737962 CNV Deletion 23290073
dgv760n71 CNV Loss 21882294
dgv761n71 CNV Loss 21882294
nsv895659 CNV Loss 21882294
nsv467344 CNV Loss 19166990
dgv762n71 CNV Loss 21882294
nsv895662 CNV Loss 21882294
dgv763n71 CNV Loss 21882294
esv2670141 CNV Deletion 23128226
nsv524840 CNV Loss 19592680
nsv895666 CNV Loss 21882294
nsv470958 CNV Loss 18288195
nsv895667 CNV Loss 21882294
esv26235 CNV Gain 19812545
nsv467345 CNV Loss 19166990
nsv522267 CNV Loss 19592680
nsv467346 CNV Loss 19166990
dgv764n71 CNV Loss 21882294
esv2737973 CNV Deletion 23290073
nsv895669 CNV Loss 21882294
nsv523509 CNV Loss 19592680
nsv467347 CNV Loss 19166990
nsv895671 CNV Loss 21882294
nsv895672 CNV Gain 21882294
nsv8683 CNV Gain 18304495
nsv527409 CNV Loss 19592680
dgv44n21 CNV Loss 19592680
nsv895673 CNV Gain 21882294
nsv467348 CNV Loss 19166990
esv994696 CNV Insertion 20482838
nsv895674 CNV Loss 21882294
nsv510226 CNV Loss 20534489
nsv467349 CNV Loss 19166990
nsv470959 CNV Loss 18288195
nsv524188 CNV Loss 19592680
nsv895675 CNV Loss 21882294
nsv467351 CNV Loss 19166990
dgv33e55 CNV Gain 17911159
esv2737984 CNV Deletion 23290073
esv2737995 CNV Deletion 23290073
nsv520745 CNV Gain 19592680
esv267777 CNV Insertion 20981092
dgv765n71 CNV Loss 21882294
esv2676584 CNV Deletion 23128226
nsv831905 CNV Gain 17160897
nsv895678 CNV Loss 21882294
nsv6953 CNV Insertion 18451855
nsv895679 CNV Gain 21882294
nsv895680 CNV Loss 21882294
nsv467353 CNV Gain 19166990
esv2662186 CNV Deletion 23128226
esv270370 CNV Insertion 20981092
esv2671264 CNV Deletion 23128226
esv23251 CNV Gain 19812545
nsv821050 CNV Deletion 20802225
nsv24302 CNV Loss 16902084
esv2642806 CNV Deletion 19546169
esv267736 CNV Insertion 20981092
esv273108 CNV Insertion 20981092
esv268726 CNV Insertion 20981092
nsv831906 CNV Loss 17160897
nsv895681 CNV Loss 21882294
nsv6966 CNV Loss 18451855
nsv895682 CNV Loss 21882294
nsv498730 CNV Loss 21111241
nsv433261 CNV Loss 18776910
nsv467354 CNV Gain 19166990
esv274901 CNV Gain+Loss 21479260
nsv470961 CNV Gain 18288195
nsv515950 CNV Gain+Loss 19592680

Relevant External Links for CTNNA3 Gene

HapMap Linkage Disequilibrium report
CTNNA3
Human Gene Mutation Database (HGMD)
CTNNA3

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

Disorders for CTNNA3 Gene

(1) OMIM Diseases for CTNNA3 Gene (607667)

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.

(1) University of Copenhagen DISEASES for CTNNA3 Gene

(1) Novoseek inferred disease relationships for CTNNA3 Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 55.1 11

Relevant External Links for CTNNA3

Genetic Association Database (GAD)
CTNNA3
Human Genome Epidemiology (HuGE) Navigator
CTNNA3
genes like me logo Genes that share disorders with CTNNA3: view

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 23
  2. 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 23 48
  3. Is alpha-T catenin (VR22) an Alzheimer's disease risk gene? (PMID: 17209133) Bertram L. … Tanzi R.E. (J. Med. Genet. 2007) 3 23 48
  4. 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 23 48
  5. 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 23 48

Products for CTNNA3 Gene

Sources for CTNNA3 Gene

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