CTNNA2 (catenin alpha 2)

2014-05-01  

Identity

HGNC
LOCATION
2p12
LOCUSID
ALIAS
CAP-R,CAPR,CDCBM9,CT114,CTNR
FUSION GENES

Other Information

Locus ID:

NCBI: 1496
MIM: 114025
HGNC: 2510
Ensembl: ENSG00000066032

Variants:

dbSNP: 1496
ClinVar: 1496
TCGA: ENSG00000066032
COSMIC: CTNNA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066032ENST00000343114P26232
ENSG00000066032ENST00000361291A0A0A0MRI5
ENSG00000066032ENST00000402739P26232
ENSG00000066032ENST00000409266B8ZZE7
ENSG00000066032ENST00000409550B9A010
ENSG00000066032ENST00000409971C9IZ88
ENSG00000066032ENST00000451966C9J144
ENSG00000066032ENST00000466387P26232
ENSG00000066032ENST00000496558P26232
ENSG00000066032ENST00000540488A0A0A0MTJ6
ENSG00000066032ENST00000541047P26232
ENSG00000066032ENST00000541047F6KRI5
ENSG00000066032ENST00000629316P26232

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Adherens junctionKEGGko04520
Leukocyte transendothelial migrationKEGGko04670
Endometrial cancerKEGGko05213
Adherens junctionKEGGhsa04520
Leukocyte transendothelial migrationKEGGhsa04670
Pathways in cancerKEGGhsa05200
Endometrial cancerKEGGhsa05213
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
Developmental BiologyREACTOMER-HSA-1266738
MyogenesisREACTOMER-HSA-525793
CDO in myogenesisREACTOMER-HSA-375170

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713366Tumor necrosis factor alpha (TNF-alpha) inhibitorsChemicalClinicalAnnotation, VariantAnnotationassociatedPD27670765
PA445451PsoriasisDiseaseClinicalAnnotation, VariantAnnotationassociatedPD27670765

References

Pubmed IDYearTitleCitations
188390572008Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.139
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
287467152017Identification of Genetic Loci Jointly Influencing Schizophrenia Risk and the Cognitive Traits of Verbal-Numerical Reasoning, Reaction Time, and General Cognitive Function.28
241006902013Cell-cell adhesion genes CTNNA2 and CTNNA3 are tumour suppressors frequently mutated in laryngeal carcinomas.27
228331952011Meta-analysis of genome-wide association studies identifies common variants in CTNNA2 associated with excitement-seeking.20
181635232008Regulation of a novel alphaN-catenin splice variant in schizophrenic smokers.14
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

CTNNA2 (catenin alpha 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-05-01

Online version: http://atlasgeneticsoncology.org/gene/53898/ctnna2