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    CTNNA2 catenin alpha 2 [ Homo sapiens (human) ]

    Gene ID: 1496, updated on 17-Jun-2019

    Summary

    Official Symbol
    CTNNA2provided by HGNC
    Official Full Name
    catenin alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:2510
    See related
    Ensembl:ENSG00000066032 MIM:114025
    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
    Expression
    Biased expression in brain (RPKM 26.7), testis (RPKM 6.2) and 1 other tissue See more
    Orthologs

    Genomic context

    See CTNNA2 in Genome Data Viewer
    Location:
    2p12
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (79505054..80648868)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (79740060..80875993)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985902 Neighboring gene uncharacterized LOC105374823 Neighboring gene uncharacterized LOC101927987 Neighboring gene G protein subunit alpha 13 pseudogene Neighboring gene RNA, U6 small nuclear 561, pseudogene Neighboring gene microRNA 4264 Neighboring gene microRNA 8080 Neighboring gene RNA binding motif protein 7 pseudogene Neighboring gene uncharacterized LOC107985903 Neighboring gene uncharacterized LOC107985904 Neighboring gene uncharacterized LOC105374824 Neighboring gene leucine rich repeat transmembrane neuronal 1 Neighboring gene uncharacterized LOC105374827 Neighboring gene ankyrin repeat domain 11 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9
    MedGen: CN257774 OMIM: 618174 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

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

    HIV-1 interactions

    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 BioSystems

    • Adherens junction, organism-specific biosystem (from KEGG)
      Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Adherens junction, conserved biosystem (from KEGG)
      Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
      Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
      Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • CDO in myogenesis, organism-specific biosystem (from REACTOME)
      CDO in myogenesis, organism-specific biosystemCDO/Cdon (cell-adhesion-molecule-related/downregulated by oncogenes) is a type I transmembrane multifunctional co-receptor consisting of five immunoglobulin and three fibronectin type III (FNIII) rep...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Endometrial cancer, organism-specific biosystem (from KEGG)
      Endometrial cancer, organism-specific biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
    • Endometrial cancer, conserved biosystem (from KEGG)
      Endometrial cancer, conserved biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
      Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Myogenesis, organism-specific biosystem (from REACTOME)
      Myogenesis, organism-specific biosystemMyogenesis, the formation of muscle tissue, is a complex process involving steps of cell proliferation mediated by growth factor signaling, cell differentiation, reorganization of cells to form myotu...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp686H02198

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cadherin binding HDA PubMed 
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of cytoskeleton NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    brain morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    modification of postsynaptic actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of Arp2/3 complex-mediated actin nucleation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of muscle cell differentiation TAS
    Traceable Author Statement
    more info
     
    prepulse inhibition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    radial glia guided migration of Purkinje cell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of synapse structural plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extrinsic component of postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extrinsic component of presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    hippocampal mossy fiber to CA3 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
     
    postsynaptic density, intracellular component IEA
    Inferred from Electronic Annotation
    more info
     
    presynaptic active zone cytoplasmic component IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    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_001164883.1NP_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, BX648368, DA313393, DC341423
      Consensus CDS
      CCDS54371.1
      UniProtKB/Swiss-Prot
      P26232
      Related
      ENSP00000486160.1, ENST00000629316.2
      Conserved Domains (1) summary
      pfam01044
      Location:81821
      Vinculin; Vinculin family
    2. NM_001282597.2NP_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) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AK303035, BX648368, DC341423, M94151
      Consensus CDS
      CCDS62944.1
      UniProtKB/Swiss-Prot
      P26232
      Conserved Domains (1) summary
      pfam01044
      Location:81914
      Vinculin; Vinculin family
    3. NM_001282598.1NP_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, BX648368
      UniProtKB/Swiss-Prot
      P26232
      Conserved Domains (1) summary
      pfam01044
      Location:115900
      Vinculin; Vinculin family
    4. NM_001282599.1NP_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, BX648368
      Consensus CDS
      CCDS62945.1
      UniProtKB/Swiss-Prot
      P26232
      Related
      ENSP00000341500.3, ENST00000343114.7
      Conserved Domains (1) summary
      pfam01044
      Location:32545
      Vinculin; Vinculin family
    5. NM_001282600.1NP_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, BX648368, HQ589336
      Consensus CDS
      CCDS74531.1
      UniProtKB/Swiss-Prot
      P26232
      UniProtKB/TrEMBL
      F6KRI5
      Related
      ENSP00000444675.2, ENST00000541047.5
      Conserved Domains (1) summary
      pfam01044
      Location:1498
      Vinculin; Vinculin family
    6. NM_001320810.1NP_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:1546
      Vinculin; Vinculin family
    7. NM_004389.3NP_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.
      Source sequence(s)
      BC040458, BC052996, BX648368, DA313393, DC341423
      Consensus CDS
      CCDS42703.2
      UniProtKB/Swiss-Prot
      P26232
      UniProtKB/TrEMBL
      Q49AD3
      Related
      ENSP00000419295.1, ENST00000496558.5
      Conserved Domains (1) summary
      pfam01044
      Location:81866
      Vinculin; Vinculin family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      79505054..80648868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452716.1XP_024308484.1  catenin alpha-2 isoform X2

      Related
      ENSP00000418191.1, ENST00000466387.5
      Conserved Domains (1) summary
      pfam01044
      Location:81866
      Vinculin; Vinculin family
    2. XM_024452714.1XP_024308482.1  catenin alpha-2 isoform X1

      Conserved Domains (1) summary
      pfam01044
      Location:81914
      Vinculin; Vinculin family
    3. XM_017003404.2XP_016858893.1  catenin alpha-2 isoform X3

    4. XM_017003405.2XP_016858894.1  catenin alpha-2 isoform X4

    5. XM_011532556.2XP_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:81914
      Vinculin; Vinculin family
    6. XM_017003403.2XP_016858892.1  catenin alpha-2 isoform X2

      UniProtKB/Swiss-Prot
      P26232
      Conserved Domains (1) summary
      pfam01044
      Location:81866
      Vinculin; Vinculin family
    7. XM_024452715.1XP_024308483.1  catenin alpha-2 isoform X1

      Conserved Domains (1) summary
      pfam01044
      Location:81914
      Vinculin; Vinculin family
    8. XM_011532555.2XP_011530857.1  catenin alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_011530857.1

      UniProtKB/Swiss-Prot
      P26232
      Related
      ENSP00000384638.4, ENST00000402739.8
      Conserved Domains (1) summary
      pfam01044
      Location:81914
      Vinculin; Vinculin family
    9. XM_017003406.2XP_016858895.1  catenin alpha-2 isoform X6

      Related
      ENSP00000441705.2, ENST00000540488.5
      Conserved Domains (1) summary
      pfam01044
      Location:1453
      Vinculin; Vinculin family
    10. XM_011532557.2XP_011530859.1  catenin alpha-2 isoform X5

      See identical proteins and their annotated locations for XP_011530859.1

      Conserved Domains (1) summary
      pfam01044
      Location:1465
      Vinculin; Vinculin family
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