ENSG00000183230


Homo sapiens

Features
Gene ID: ENSG00000183230
  
Biological name :CTNNA3
  
Synonyms : catenin alpha 3 / CTNNA3 / Q9UI47
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q21.3
Gene start: 65912518
Gene end: 67696169
  
Corresponding Affymetrix probe sets: 1554235_at (Human Genome U133 Plus 2.0 Array)   220815_at (Human Genome U133 Plus 2.0 Array)   236576_at (Human Genome U133 Plus 2.0 Array)   241255_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000330570
Ensembl peptide - ENSP00000389714
Ensembl peptide - ENSP00000441444
Ensembl peptide - ENSP00000477144
NCBI entrez gene - 29119     See in Manteia.
OMIM - 607667
RefSeq - XM_017016157
RefSeq - NM_001127384
RefSeq - NM_013266
RefSeq - XM_017016151
RefSeq - XM_017016152
RefSeq - XM_017016153
RefSeq - XM_017016154
RefSeq - XM_017016155
RefSeq - XM_017016156
RefSeq Peptide - NP_001120856
RefSeq Peptide - NP_037398
swissprot - Q5SW23
swissprot - Q9UI47
swissprot - V9GYW4
swissprot - F2Z2R0
Ensembl - ENSG00000183230
  
Related genetic diseases (OMIM): 615616 - Arrhythmogenic right ventricular dysplasia, familial, 13, 615616
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CTNNA3ENSGALG00000002845Gallus gallus
 Ctnna3ENSMUSG00000060843Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CTNNA2 / P26232 / catenin alpha 2ENSG0000006603261
CTNNA1 / P35221 / catenin alpha 1ENSG0000004411560
VCL / P18206 / vinculinENSG0000003540321
Q9UBT7 / CTNNAL1 / catenin alpha like 1ENSG0000011932620


Protein motifs (from Interpro)
Interpro ID Name
 IPR001033  Alpha-catenin
 IPR006077  Vinculin/alpha-catenin
 IPR030044  Alpha T-catenin
 IPR036723  Alpha-catenin/vinculin-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0086073 bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:0098609 cell-cell adhesion IEA
 biological_processGO:0098911 regulation of ventricular cardiac muscle cell action potential IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005912 adherens junction IEA
 cellular_componentGO:0005916 fascia adherens IEA
 cellular_componentGO:0030027 lamellipodium IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008013 beta-catenin binding IPI
 molecular_functionGO:0045296 cadherin binding IEA
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0004756 Ventricular tachycardia 
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 HP:0011710 Bundle branch block "Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches." [DDD:dbrown, HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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