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CTNNA2 catenin alpha 2 [ Homo sapiens (human) ]

Gene ID: 1496, updated on 23-Jan-2021

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
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Genomic context

See CTNNA2 in Genome Data Viewer
Location:
2p12
Exon count:
29
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (79505054..80648788)
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 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

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
GeneReviews: Not available
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
GeneReviews: Not available
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
GeneReviews: Not available
Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations.
GeneReviews: Not available
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
GeneReviews: Not available
not provided
MedGen: C4748540 OMIM: 618174 GeneReviews: Not available
Compare labs
Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.
GeneReviews: Not available

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 PubChem

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 
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
 
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
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane 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)

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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_001164883.2NP_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:81821
    Vinculin; Vinculin family
  2. NM_001282597.3NP_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)
    AC008067, AC010975, AC011741, AC011746, AC096573, AC096753, AC104780, FJ695201
    Consensus CDS
    CCDS62944.1
    UniProtKB/Swiss-Prot
    P26232
    Conserved Domains (1) summary
    pfam01044
    Location:18914
    Vinculin; Vinculin family
  3. NM_001282598.2NP_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:115900
    Vinculin; Vinculin family
  4. NM_001282599.2NP_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:32545
    Vinculin; Vinculin family
  5. NM_001282600.2NP_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:1498
    Vinculin; Vinculin family
  6. NM_001320810.2NP_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_004389.4NP_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, DA313393
    Consensus CDS
    CCDS42703.2
    UniProtKB/Swiss-Prot
    P26232
    UniProtKB/TrEMBL
    Q49AD3
    Related
    ENSP00000419295.1, ENST00000496558.5
    Conserved Domains (1) summary
    pfam01044
    Location:18866
    Vinculin; Vinculin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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..80648788
    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:18866
    Vinculin; Vinculin family
  2. XM_024452714.1XP_024308482.1  catenin alpha-2 isoform X1

    Conserved Domains (1) summary
    pfam01044
    Location:18914
    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:18914
    Vinculin; Vinculin family
  6. XM_017003403.2XP_016858892.1  catenin alpha-2 isoform X2

    UniProtKB/Swiss-Prot
    P26232
    Conserved Domains (1) summary
    pfam01044
    Location:18866
    Vinculin; Vinculin family
  7. XM_024452715.1XP_024308483.1  catenin alpha-2 isoform X1

    Conserved Domains (1) summary
    pfam01044
    Location:18914
    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:18914
    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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