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CTNNA2 catenin alpha 2 [ Homo sapiens (human) ]

Gene ID: 1496, updated on 13-May-2022

Summary

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Official Symbol
CTNNA2provided by HGNC
Official Full Name
catenin alpha 2provided by HGNC
Primary source
HGNC:HGNC:2510
See related
Ensembl:ENSG00000066032 MIM:114025; AllianceGenome:HGNC:2510
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAPR; CTNR; CAP-R; CT114; CDCBM9
Summary
Enables actin filament binding activity. Involved in negative regulation of Arp2/3 complex-mediated actin nucleation; regulation of neuron migration; and regulation of neuron projection development. Located in cytoplasm. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 26.7), testis (RPKM 6.2) and 1 other tissue See more
Orthologs
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Genomic context

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See CTNNA2 in Genome Data Viewer
Location:
2p12
Exon count:
33
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (79185377..80648780)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (79185703..80649017)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (79412503..80875905)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374823 Neighboring gene regenerating family member 1 gamma, pseudogene Neighboring gene regenerating family member 3 alpha Neighboring gene CTNNA2 antisense RNA 1 Neighboring gene GNA13 pseudogene 1 Neighboring gene RNA, U6 small nuclear 561, pseudogene Neighboring gene microRNA 4264 Neighboring gene microRNA 8080 Neighboring gene uncharacterized LOC107985903 Neighboring gene uncharacterized LOC107985904 Neighboring gene RBM7 pseudogene 1 Neighboring gene uncharacterized LOC105374824 Neighboring gene leucine rich repeat transmembrane neuronal 1 Neighboring gene uncharacterized LOC105374827 Neighboring gene ANKRD11 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Novel-miR-4885 Promotes Migration and Invasion of Esophageal Cancer Cells Through Targeting CTNNA2. Song J, et al. DNA Cell Biol, 2019 Feb. PMID 30526004
  2. A pilot genome-wide association study of breast cancer susceptibility loci in Indonesia. Haryono SJ, et al. Asian Pac J Cancer Prev, 2015. PMID 25824743
  3. Meta-analysis of genome-wide association studies identifies common variants in CTNNA2 associated with excitement-seeking. Terracciano A, et al. Transl Psychiatry, 2011 Oct 18. PMID 22833195, Free PMC Article
  4. Regulation of a novel alphaN-catenin splice variant in schizophrenic smokers. Mexal S, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Sep 5. PMID 18163523, Free PMC Article
  5. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Schaffer AE, et al. Nat Genet, 2018 Aug. PMID 30013181, Free PMC Article

See all (63) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel-miR-4885 can bind to 3' untranslated region of CTNNA2 to reduce cell adhesion.
    Title: Novel-miR-4885 Promotes Migration and Invasion of Esophageal Cancer Cells Through Targeting CTNNA2.
  2. Single nucleotide polymorphisms in CTNNA2 show associations in Schizophrenia and general cognitive function.
    Title: Identification of Genetic Loci Jointly Influencing Schizophrenia Risk and the Cognitive Traits of Verbal-Numerical Reasoning, Reaction Time, and General Cognitive Function.
  3. One association in the CTNNA2 gene on chromosome 2p12 [rs1567532, hazard ratio (HR) = 1.75, 95% confidence interval (CI) 1.19-2.58, P = 0.005 for homozygotes for the minor allele] and one in the last intron of the RUNX2 gene on chromosome 6p21 (rs12209785, HR = 0.88, 95% CI 0.80-0.98, P = 0.014 for heterozygotes) are of particular relevance. These loci do not coincide with those that showed the strongest associations in t
    Title: Association of genetic polymorphisms with survival of pancreatic ductal adenocarcinoma patients.
  4. SNP 50-kb upstream from CTNNA2 was associated with impulsivity in Native American sample.
    Title: Single nucleotide polymorphisms in the REG-CTNNA2 region of chromosome 2 and NEIL3 associated with impulsivity in a Native American sample.
  5. Single nucleotide polymorphism in CTNNA2 is associated with breast cancer susceptibility.
    Title: A pilot genome-wide association study of breast cancer susceptibility loci in Indonesia.
  6. CTNNA2 gene increases the risk of alcohol addiction in White women.
    Title: TARV: tree-based analysis of rare variants identifying risk modifying variants in CTNNA2 and CNTNAP2 for alcohol addiction.
  7. CTNNA2 and CTNNA3 are tumor suppressor genes frequently mutated in laryngeal carcinomas.
    Title: Cell-cell adhesion genes CTNNA2 and CTNNA3 are tumour suppressors frequently mutated in laryngeal carcinomas.
  8. Common variants in CTNNA2 are associated with excitement-seeking and risk-taking.
    Title: Meta-analysis of genome-wide association studies identifies common variants in CTNNA2 associated with excitement-seeking.
  9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cortical dysplasia, complex, with other brain malformations 9
MedGen: C4748540 OMIM: 618174 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
EBI GWAS Catalog
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
EBI GWAS Catalog
Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations.
EBI GWAS Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
EBI GWAS Catalog
Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 and alpha-catenin co-localize in gp160 and GST-alpha-catenin expressing cells; the leucine zipper-like domain (gp160 residues 791-824) of gp41 interacts strongly with the carboxy terminus (residues 795-906) of alpha-catenin PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686H02198

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables actin filament binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables beta-catenin binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables cadherin binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of cytoskeleton NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in brain morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in cell-cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
involved_in dendrite morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of Arp2/3 complex-mediated actin nucleation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in prepulse inhibition ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in radial glia guided migration of Purkinje cell ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of neuron migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of synapse structural plasticity ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in adherens junction ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of catenin complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
catenin alpha-2
Names
alpha-N-catenin
alpha-catenin-related protein
cadherin-associated protein, related
cancer/testis antigen 114
catenin (cadherin-associated protein), alpha 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001164883.2 → NP_001158355.1  catenin alpha-2 isoform 2

    See identical proteins and their annotated locations for NP_001158355.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two consecutive exons in the 3' coding region but maintains the reading frame compared to variant 1. The resulting isoform (2) lacks an internal segment near the C-terminus compared to isoform 3.
    Source sequence(s)
    AK295181, BC052996, DA313393
    Consensus CDS
    CCDS54371.1
    UniProtKB/Swiss-Prot
    P26232
    Related
    ENSP00000486160.1, ENST00000629316.2
    Conserved Domains (1) summary
    pfam01044
    Location:81 → 821
    Vinculin; Vinculin family

  2. NM_001282597.3 → NP_001269526.1  catenin alpha-2 isoform 3

    See identical proteins and their annotated locations for NP_001269526.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AC008067, AC010975, AC011741, AC011746, AC096573, AC096753, AC104780, FJ695201
    Consensus CDS
    CCDS62944.1
    UniProtKB/Swiss-Prot
    P26232
    Related
    ENSP00000384638.4, ENST00000402739.9
    Conserved Domains (1) summary
    pfam01044
    Location:81 → 914
    Vinculin; Vinculin family

  3. NM_001282598.2 → NP_001269527.1  catenin alpha-2 isoform 4

    See identical proteins and their annotated locations for NP_001269527.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has an alternate 5' terminal exon that includes an upstream in-frame AUG start codon, and lacks an in-frame exon in the 3' coding region, compared to variant 3. The resulting isoform (4) is longer at the N-terminus but lacks an internal segment near the C-terminus compared to isoform 3.
    Source sequence(s)
    AC010975, AK303035, BC052996
    UniProtKB/Swiss-Prot
    P26232
    Conserved Domains (1) summary
    pfam01044
    Location:115 → 900
    Vinculin; Vinculin family

  4. NM_001282599.2 → NP_001269528.1  catenin alpha-2 isoform 5

    See identical proteins and their annotated locations for NP_001269528.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and has multiple coding region differences compared to variant 3. These differences include translation initiation at an alternate AUG start codon. The resulting isoform (5) has a shorter and distinct N-terminus and lacks an internal segment near the C-terminus compared to isoform 3.
    Source sequence(s)
    BC052996, BX537769
    Consensus CDS
    CCDS62945.1
    UniProtKB/Swiss-Prot
    P26232
    Related
    ENSP00000341500.3, ENST00000343114.7
    Conserved Domains (1) summary
    pfam01044
    Location:32 → 545
    Vinculin; Vinculin family

  5. NM_001282600.2 → NP_001269529.1  catenin alpha-2 isoform 6

    See identical proteins and their annotated locations for NP_001269529.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) has an alternate exon in the 5' UTR and has multiple coding region differences compared to variant 3. These differences include translation initiation at a downstream AUG start codon. The resulting isoform (6) is shorter at the N-terminus and lacks an internal segment near the C-terminus compared to isoform 3.
    Source sequence(s)
    BC052996, BI599815, HQ589336
    Consensus CDS
    CCDS74531.1
    UniProtKB/Swiss-Prot
    P26232
    UniProtKB/TrEMBL
    F6KRI5
    Related
    ENSP00000444675.2, ENST00000541047.5
    Conserved Domains (1) summary
    pfam01044
    Location:1 → 498
    Vinculin; Vinculin family

  6. NM_001320810.2 → NP_001307739.1  catenin alpha-2 isoform 7

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 3. This difference includes translation initiation at a downstream AUG start codon. The resulting isoform (7) is shorter at the N-terminus compared to isoform 3.
    Source sequence(s)
    AC008067, BI599815, BX648368, M94151
    UniProtKB/Swiss-Prot
    P26232
    Related
    ENSP00000355398.5, ENST00000361291.8
    Conserved Domains (1) summary
    pfam01044
    Location:1 → 546
    Vinculin; Vinculin family

  7. NM_001399737.1 → NP_001386666.1  catenin alpha-2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks an in-frame exon in the 3' coding region compared to variant 3 and differs in the 5' UTR. The resulting isoform (1) lacks an internal segment near the C-terminus compared to isoform 3. Variants 1 and 8 encode the same isoform (1).
    Source sequence(s)
    AC008067, AC010975, AC011741, AC011746, AC011754, AC018733, AC096573, AC096753, AC104780, FJ695201
    Related
    ENSP00000418191.1, ENST00000466387.5
    Conserved Domains (1) summary
    pfam01044
    Location:81 → 866
    Vinculin; Vinculin family

  8. NM_004389.4 → NP_004380.2  catenin alpha-2 isoform 1

    See identical proteins and their annotated locations for NP_004380.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks an in-frame exon in the 3' coding region compared to variant 3. The resulting isoform (1) lacks an internal segment near the C-terminus compared to isoform 3. Variants 1 and 8 encode the same isoform (1).
    Source sequence(s)
    BC040458, BC052996, DA313393
    Consensus CDS
    CCDS42703.2
    UniProtKB/Swiss-Prot
    P26232
    UniProtKB/TrEMBL
    Q49AD3
    Related
    ENSP00000419295.1, ENST00000496558.5
    Conserved Domains (1) summary
    pfam01044
    Location:81 → 866
    Vinculin; Vinculin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    79185377..80648780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452714.2 → XP_024308482.1  catenin alpha-2 isoform X1

    Conserved Domains (1) summary
    pfam01044
    Location:81 → 914
    Vinculin; Vinculin family

  2. XM_011532556.3 → XP_011530858.1  catenin alpha-2 isoform X1

    See identical proteins and their annotated locations for XP_011530858.1

    UniProtKB/Swiss-Prot
    P26232
    Conserved Domains (1) summary
    pfam01044
    Location:81 → 914
    Vinculin; Vinculin family

  3. XM_017003403.3 → XP_016858892.1  catenin alpha-2 isoform X2

    UniProtKB/Swiss-Prot
    P26232
    Conserved Domains (1) summary
    pfam01044
    Location:81 → 866
    Vinculin; Vinculin family

  4. XM_047443447.1 → XP_047299403.1  catenin alpha-2 isoform X3

  5. XM_017003405.3 → XP_016858894.1  catenin alpha-2 isoform X4

  6. XM_024452715.2 → XP_024308483.1  catenin alpha-2 isoform X1

    Conserved Domains (1) summary
    pfam01044
    Location:81 → 914
    Vinculin; Vinculin family

  7. XM_011532557.3 → XP_011530859.1  catenin alpha-2 isoform X5

    See identical proteins and their annotated locations for XP_011530859.1

    Conserved Domains (1) summary
    pfam01044
    Location:1 → 465
    Vinculin; Vinculin family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    79185703..80649017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P26232.5 GenPept UniProtKB/Swiss-Prot:P26232

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