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    Ctnna2 catenin alpha 2 [ Mus musculus (house mouse) ]

    Gene ID: 12386, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Ctnna2provided by MGI
    Official Full Name
    catenin alpha 2provided by MGI
    Primary source
    MGI:MGI:88275
    See related
    Ensembl:ENSMUSG00000063063 AllianceGenome:MGI:88275
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    cdf; chp; Catna; Catna2
    Summary
    Enables identical protein binding activity. Involved in several processes, including modification of postsynaptic actin cytoskeleton; nervous system development; and prepulse inhibition. Located in several cellular components, including adherens junction; basolateral plasma membrane; and hippocampal mossy fiber to CA3 synapse. Is extrinsic component of postsynaptic membrane and extrinsic component of presynaptic membrane. Is active in parallel fiber to Purkinje cell synapse; postsynaptic density, intracellular component; and presynaptic active zone cytoplasmic component. Is expressed in several structures, including alimentary system; nervous system; reproductive system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in complex cortical dysplasia with other brain malformations. Orthologous to human CTNNA2 (catenin alpha 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in CNS E18 (RPKM 45.0), CNS E14 (RPKM 36.8) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    6 C3; 6 33.54 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (76858620..77956798, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (76881637..77979815, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_16373 Neighboring gene predicted gene, 38836 Neighboring gene predicted gene, 31860 Neighboring gene STARR-seq mESC enhancer starr_16374 Neighboring gene leucine rich repeat transmembrane neuronal 1 Neighboring gene RIKEN cDNA 6330415B21 gene Neighboring gene STARR-seq mESC enhancer starr_16379 Neighboring gene predicted gene, 38837 Neighboring gene STARR-seq mESC enhancer starr_16381 Neighboring gene STARR-seq mESC enhancer starr_16382 Neighboring gene STARR-seq mESC enhancer starr_16383 Neighboring gene predicted gene, 21045 Neighboring gene predicted pseudogene 5576

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. In vivo magnetic resonance imaging and semiautomated image analysis extend the brain phenotype for cdf/cdf mice. Bock NA, et al. J Neurosci, 2006 Apr 26. PMID 16641223, Free PMC Article
    2. The cerebellar deficient folia (cdf) gene acts intrinsically in Purkinje cell migrations. Park C, et al. Genesis, 2002 Jan. PMID 11835672
    3. Abnormal dispersion of a purkinje cell subset in the mouse mutant cerebellar deficient folia (cdf). Beierbach E, et al. J Comp Neurol, 2001 Jul 16. PMID 11413545
    4. Genomic analyses in African populations identify novel risk loci for cleft palate. Butali A, et al. Hum Mol Genet, 2019 Mar 15. PMID 30452639, Free PMC Article
    5. Stability of dendritic spines and synaptic contacts is controlled by alpha N-catenin. Abe K, et al. Nat Neurosci, 2004 Apr. PMID 15034585

    See all (103) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. alphaE-catenin recruits vinculin to adherens junctions more effectively than alphaN-catenin, partly because of its higher affinity for actin filaments.
      Title: An autoinhibited structure of α-catenin and its implications for vinculin recruitment to adherens junctions.
    2. alpha-catenin has dual roles in intestinal tumorigenesis, a supporting role in tumor initiation, and a suppressive role in tumor progression
      Title: Alpha-catenin is essential in intestinal adenoma formation.
    3. CDF mutation disrupts the positioning of many, but not all, Purkinje cells during development.
      Title: The cerebellar deficient folia (cdf) gene acts intrinsically in Purkinje cell migrations.
    4. In the cortex, alpha-catenin is switched from alphaE-catenin in the VZ to alphaN-catenin II in the intermediate zone (IMZ).
      Title: Switching of alpha-catenin from alphaE-catenin in the cortical ventricular zone to alphaN-catenin II in the intermediate zone.
    5. Alpha N-catenin, a linker between cadherin adhesion receptors and the actin cytoskeleton, is essential for stabilizing dendritic spines in rodent hippocampal neurons in culture.
      Title: Stability of dendritic spines and synaptic contacts is controlled by alpha N-catenin.
    6. alphaN-catenin expression is low in the ventricular zone and high in the developing cortical plate.
      Title: Differential expression of alpha-E-catenin and alpha-N-catenin in the developing cerebral cortex.
    7. A deletion in this protein causes cerebellar and hippocampal lamination defects and impaired startle reaction.
      Title: Deletion in Catna2, encoding alpha N-catenin, causes cerebellar and hippocampal lamination defects and impaired startle modulation.
    8. has diverse roles in the organization of the central nervous system, but only in limited portions of the brain
      Title: Alpha N-catenin deficiency causes defects in axon migration and nuclear organization in restricted regions of the mouse brain.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin filament binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables beta-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cadherin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in brain morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dendrite morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in modification of postsynaptic actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in modification of postsynaptic actin cytoskeleton IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of Arp2/3 complex-mediated actin nucleation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in prepulse inhibition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in radial glia guided migration of Purkinje cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of neuron migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of neuron projection development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of synapse structural plasticity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		  
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axon IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extrinsic component of postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extrinsic component of presynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in hippocampal mossy fiber to CA3 synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in parallel fiber to Purkinje cell synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynaptic density, intracellular component IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in presynaptic active zone cytoplasmic component IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    catenin alpha-2
    Names
    alpha(N)-catenin
    cadherin associated protein
    catenin (cadherin associated protein), alpha 2
    cerebellar deficient folia

    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_001109764.1 → NP_001103234.1  catenin alpha-2 isoform 2

      See identical proteins and their annotated locations for NP_001103234.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (2). Variants 2 and 3 both encode isoform 2.
      Source sequence(s)
      BC051995, BC079648, CD578966
      Consensus CDS
      CCDS20250.1
      UniProtKB/Swiss-Prot
      Q3TY37, Q61300, Q61301, Q6AXD1
      Related
      ENSMUSP00000124764.2, ENSMUST00000160894.8
      Conserved Domains (1) summary
      pfam01044
      Location:81 → 914
      Vinculin; Vinculin family

    2. NM_001355193.1 → NP_001342122.1  catenin alpha-2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform (2). Variants 1 and 4 encode the same protein (isoform 1).
      Source sequence(s)
      AC116787, AC130220, AC152957, AC153997, AC154000, AC155840, BC079648
      Consensus CDS
      CCDS39521.1
      Related
      ENSMUSP00000074809.6, ENSMUST00000075340.12
      Conserved Domains (1) summary
      pfam01044
      Location:81 → 866
      Vinculin; Vinculin family

    3. NM_009819.2 → NP_033949.2  catenin alpha-2 isoform 2

      See identical proteins and their annotated locations for NP_033949.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 2 and 3 both encode isoform 2.
      Source sequence(s)
      BC051995, CD578966
      Consensus CDS
      CCDS20250.1
      UniProtKB/Swiss-Prot
      Q3TY37, Q61300, Q61301, Q6AXD1
      Related
      ENSMUSP00000124376.2, ENSMUST00000159626.8
      Conserved Domains (1) summary
      pfam01044
      Location:81 → 914
      Vinculin; Vinculin family

    4. NM_145732.2 → NP_663785.2  catenin alpha-2 isoform 1

      See identical proteins and their annotated locations for NP_663785.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform (2).
      Source sequence(s)
      AK158916, BC079648, CD578966
      Consensus CDS
      CCDS39521.1
      UniProtKB/Swiss-Prot
      Q61301
      Related
      ENSMUSP00000123714.2, ENSMUST00000161846.8
      Conserved Domains (1) summary
      pfam01044
      Location:81 → 866
      Vinculin; Vinculin family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      76858620..77956798 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011241195.3 → XP_011239497.1  catenin alpha-2 isoform X1

      Conserved Domains (1) summary
      pfam01044
      Location:31 → 823
      Vinculin; Vinculin family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q61301.3 GenPept UniProtKB/Swiss-Prot:Q61301

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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