This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reco... See more...

Aliases for CTNNA1 Gene

Aliases for CTNNA1 Gene

  • Catenin Alpha 1 2 3 5
  • Renal Carcinoma Antigen NY-REN-13 3 4
  • Alpha-E-Catenin 2 3
  • Catenin Alpha-1 3 4
  • CAP102 2 3
  • Catenin (Cadherin-Associated Protein), Alpha 1 (102kD) 2
  • Catenin (Cadherin-Associated Protein), Alpha 1, 102kDa 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Cadherin-Associated Protein 4
  • Alpha E-Catenin 4
  • CTNNA1 5
  • MDPT2 3

External Ids for CTNNA1 Gene

Previous GeneCards Identifiers for CTNNA1 Gene

  • GC05P137992
  • GC05P138765
  • GC05P138119
  • GC05P138165
  • GC05P138193
  • GC05P138117
  • GC05P133278
  • GC05P137947

Summaries for CTNNA1 Gene

Entrez Gene Summary for CTNNA1 Gene

  • This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]

GeneCards Summary for CTNNA1 Gene

CTNNA1 (Catenin Alpha 1) is a Protein Coding gene. Diseases associated with CTNNA1 include Macular Dystrophy, Patterned, 2 and Butterfly-Shaped Pigment Dystrophy. Among its related pathways are Presenilin-Mediated Signaling and Adherens junction. Gene Ontology (GO) annotations related to this gene include actin filament binding. An important paralog of this gene is CTNNA2.

UniProtKB/Swiss-Prot Summary for CTNNA1 Gene

  • Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical actin was found to be much more dynamic than E-cadherin/catenin complexes and CTNNA1 was shown not to bind to F-actin when assembled in the complex suggesting a different linkage between actin and adherens junctions components. The homodimeric form may regulate actin filament assembly and inhibit actin branching by competing with the Arp2/3 complex for binding to actin filaments. Involved in the regulation of WWTR1/TAZ, YAP1 and TGFB1-dependent SMAD2 and SMAD3 nuclear accumulation (By similarity). May play a crucial role in cell differentiation.

Gene Wiki entry for CTNNA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTNNA1 Gene

Genomics for CTNNA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTNNA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTNNA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTNNA1

Top Transcription factor binding sites by QIAGEN in the CTNNA1 gene promoter:
  • GR
  • GR-alpha
  • HOXA9
  • HOXA9B
  • IRF-1
  • Meis-1
  • Meis-1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for CTNNA1 Gene

Latest Assembly
chr5:138,610,967-138,935,034
(GRCh38/hg38)
Size:
324,068 bases
Orientation:
Plus strand

Previous Assembly
chr5:138,089,114-138,270,723
(GRCh37/hg19 by Entrez Gene)
Size:
181,610 bases
Orientation:
Plus strand

chr5:137,946,656-138,270,723
(GRCh37/hg19 by Ensembl)
Size:
324,068 bases
Orientation:
Plus strand

Genomic View for CTNNA1 Gene

Genes around CTNNA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTNNA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTNNA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTNNA1 Gene

Proteins for CTNNA1 Gene

  • Protein details for CTNNA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35221-CTNA1_HUMAN
    Recommended name:
    Catenin alpha-1
    Protein Accession:
    P35221
    Secondary Accessions:
    • Q12795
    • Q8N1C0

    Protein attributes for CTNNA1 Gene

    Size:
    906 amino acids
    Molecular mass:
    100071 Da
    Quaternary structure:
    • Monomer and homodimer; the monomer preferentially binds to CTNNB1 and the homodimer to actin (By similarity). Component of an cadherin:catenin adhesion complex composed of at least of CDH26, beta-catenin/CTNNB1, alpha-catenin/CTNNA1 and p120 catenin/CTNND1 (PubMed:28051089). Possible component of an E-cadherin/ catenin adhesion complex together with E-cadherin/CDH1 and beta-catenin/CTNNB1 or gamma-catenin/JUP; the complex is located to adherens junctions (By similarity). The stable association of CTNNA1 is controversial as CTNNA1 was shown not to bind to F-actin when assembled in the complex (By similarity). Alternatively, the CTNNA1-containing complex may be linked to F-actin by other proteins such as LIMA1 (By similarity). Binds AFDN and F-actin (By similarity). Interacts with ARHGAP21 (PubMed:16184169). Interacts with AJUBA (PubMed:12417594). Interacts with LIMA1 (PubMed:18093941). Interacts with vinculin/VCL (PubMed:26691986).
    Miscellaneous:
    • [Isoform 3]: Expressed at high levels in the nervous system. Lacks the beta-catenin interaction domain.

    Three dimensional structures from OCA and Proteopedia for CTNNA1 Gene

    Alternative splice isoforms for CTNNA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTNNA1 Gene

Post-translational modifications for CTNNA1 Gene

  • Sumoylated.
  • Phosphorylation seems to contribute to the strength of cell-cell adhesion rather than to the basic capacity for cell-cell adhesion.
  • Ubiquitination at Lys12, Lys45, Lys478, Lys178, Lys216, and Lys797
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for CTNNA1 Gene

Domains & Families for CTNNA1 Gene

Gene Families for CTNNA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CTNNA1 Gene

Suggested Antigen Peptide Sequences for CTNNA1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54047, highly similar to Alpha-1 catenin (Cadherin-associated protein) (B4E2G8_HUMAN)
  • Renal carcinoma antigen NY-REN-13 (CTNA1_HUMAN)
  • CTNNA1 protein (Q16370_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35221

UniProtKB/Swiss-Prot:

CTNA1_HUMAN :
  • Belongs to the vinculin/alpha-catenin family.
Family:
  • Belongs to the vinculin/alpha-catenin family.
genes like me logo Genes that share domains with CTNNA1: view

Function for CTNNA1 Gene

Molecular function for CTNNA1 Gene

UniProtKB/Swiss-Prot Function:
Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical actin was found to be much more dynamic than E-cadherin/catenin complexes and CTNNA1 was shown not to bind to F-actin when assembled in the complex suggesting a different linkage between actin and adherens junctions components. The homodimeric form may regulate actin filament assembly and inhibit actin branching by competing with the Arp2/3 complex for binding to actin filaments. Involved in the regulation of WWTR1/TAZ, YAP1 and TGFB1-dependent SMAD2 and SMAD3 nuclear accumulation (By similarity). May play a crucial role in cell differentiation.
GENATLAS Biochemistry:
catenin alpha 1,102kDa,desmosomal plaque component,regulating cell adhesion (component of the E cadherin multiprotein complex

Phenotypes From GWAS Catalog for CTNNA1 Gene

Gene Ontology (GO) - Molecular Function for CTNNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 12477722
GO:0008013 beta-catenin binding IPI 7650039
GO:0017166 vinculin binding IPI 9700171
genes like me logo Genes that share ontologies with CTNNA1: view
genes like me logo Genes that share phenotypes with CTNNA1: view

Human Phenotype Ontology for CTNNA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNNA1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CTNNA1 Gene

Localization for CTNNA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTNNA1 Gene

[Isoform 1]: Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cell membrane. Peripheral membrane protein. Cytoplasmic side. Cell junction. Note=Found at cell-cell boundaries and probably at cell-matrix boundaries.
[Isoform 3]: Cell membrane. Peripheral membrane protein. Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTNNA1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 4
nucleus 3
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTNNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CTNNA1: view

Pathways & Interactions for CTNNA1 Gene

genes like me logo Genes that share pathways with CTNNA1: view

Pathways by source for CTNNA1 Gene

3 GeneGo (Thomson Reuters) pathways for CTNNA1 Gene
  • Cell adhesion_Cadherin-mediated cell adhesion
  • Cell adhesion_Endothelial cell contacts by junctional mechanisms
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
10 Qiagen pathways for CTNNA1 Gene
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics
  • Internalin Pathway
  • Molecular Mechanisms of Cancer
1 Cell Signaling Technology pathway for CTNNA1 Gene

SIGNOR curated interactions for CTNNA1 Gene

Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for CTNNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0007015 actin filament organization IEA --
GO:0007155 cell adhesion NAS 8323564
GO:0007163 establishment or maintenance of cell polarity IEA --
GO:0007406 negative regulation of neuroblast proliferation IEA --
genes like me logo Genes that share ontologies with CTNNA1: view

Drugs & Compounds for CTNNA1 Gene

(5) Drugs for CTNNA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for CTNNA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CTNNA1: view

Transcripts for CTNNA1 Gene

mRNA/cDNA for CTNNA1 Gene

37 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
44 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNNA1

Alternative Splicing Database (ASD) splice patterns (SP) for CTNNA1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d · 11e ^ 12 ^ 13a · 13b ^ 14 ^ 15a ·
SP1: - - - - - - - - - - - - - -
SP2: - - - -
SP3: -
SP4: - -
SP5: -
SP6: - - -
SP7:
SP8: - - -
SP9:
SP10:
SP11: - - - - -
SP12: -
SP13: -
SP14: - - - - - - - - - -
SP15:
SP16:
SP17: -
SP18:

ExUns: 15b ^ 16 ^ 17a · 17b · 17c · 17d · 17e · 17f ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b · 26c
SP1: - - - - -
SP2: - - - - -
SP3:
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14: -
SP15: - - -
SP16:
SP17:
SP18:

Relevant External Links for CTNNA1 Gene

GeneLoc Exon Structure for
CTNNA1

Expression for CTNNA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTNNA1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTNNA1 Gene



Protein tissue co-expression partners for CTNNA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTNNA1

SOURCE GeneReport for Unigene cluster for CTNNA1 Gene:

Hs.445981

mRNA Expression by UniProt/SwissProt for CTNNA1 Gene:

P35221-CTNA1_HUMAN
Tissue specificity: Expressed ubiquitously in normal tissues.

Evidence on tissue expression from TISSUES for CTNNA1 Gene

  • Nervous system(5)
  • Lung(5)
  • Intestine(4.9)
  • Liver(4.7)
  • Skin(4.7)
  • Kidney(4.5)
  • Eye(3.4)
  • Pancreas(3.2)
  • Heart(3.1)
  • Muscle(3.1)
  • Stomach(2.8)
  • Thyroid gland(2.7)
  • Spleen(2.5)
  • Lymph node(2.4)
  • Bone(2.3)
  • Gall bladder(2.2)
  • Blood(2.1)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTNNA1 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
Regions:
Abdomen:
  • stomach
genes like me logo Genes that share expression patterns with CTNNA1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for CTNNA1 Gene

Orthologs for CTNNA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CTNNA1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CTNNA1 29 30
  • 99.56 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 96 (a)
OneToMany
-- 30
  • 88 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia CTNNA1 30
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CTNNA1 29 30
  • 93.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CTNNA1 29 30
  • 92.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ctnna1 29 16 30
  • 91.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ctnna1 29
  • 90.21 (n)
Chicken
(Gallus gallus)
Aves CTNNA1 29 30
  • 84.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CTNNA1 30
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ctnna1 29
  • 79.1 (n)
Str.11082 29
Zebrafish
(Danio rerio)
Actinopterygii ctnna1 30
  • 91 (a)
OneToOne
ctnna 29
Fruit Fly
(Drosophila melanogaster)
Insecta alpha-Cat 30 31
  • 61 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea hmp-1 30 31
  • 38 (a)
ManyToMany
Species where no ortholog for CTNNA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CTNNA1 Gene

ENSEMBL:
Gene Tree for CTNNA1 (if available)
TreeFam:
Gene Tree for CTNNA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTNNA1: view image
Alliance of Genome Resources:
Additional Orthologs for CTNNA1

Paralogs for CTNNA1 Gene

Paralogs for CTNNA1 Gene

(2) SIMAP similar genes for CTNNA1 Gene using alignment to 30 proteins:

  • CTNA1_HUMAN
  • E5RFG3_HUMAN
  • E5RFK9_HUMAN
  • E5RFM3_HUMAN
  • E5RFM5_HUMAN
  • E5RG03_HUMAN
  • E5RGD2_HUMAN
  • E5RGG4_HUMAN
  • E5RGS1_HUMAN
  • E5RGU3_HUMAN
  • E5RGY6_HUMAN
  • E5RGY7_HUMAN
  • E5RHJ5_HUMAN
  • E5RHR7_HUMAN
  • E5RHV7_HUMAN
  • E5RHY5_HUMAN
  • E5RIB1_HUMAN
  • E5RIE0_HUMAN
  • E5RIT8_HUMAN
  • E5RJ41_HUMAN
  • E5RJ43_HUMAN
  • E5RJC9_HUMAN
  • E5RJL0_HUMAN
  • E5RJP7_HUMAN
  • E5RJZ2_HUMAN
  • F8W845_HUMAN
  • G3XAM7_HUMAN
  • H0YB54_HUMAN
  • H0YBB8_HUMAN
  • Q16370_HUMAN

Pseudogenes.org Pseudogenes for CTNNA1 Gene

genes like me logo Genes that share paralogs with CTNNA1: view

Variants for CTNNA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTNNA1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1000031 Uncertain Significance: not provided 138,783,188(+) T/A
NM_001903.5(CTNNA1):c.117T>A (p.Leu39=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
1000045 Uncertain Significance: not provided 138,930,639(+) TGACA/T
NM_001903.5(CTNNA1):c.2181_2184del (p.Asp728fs)
FRAMESHIFT
1000847 Uncertain Significance: not provided 138,782,023(+) T/TA
NM_001903.5(CTNNA1):c.100dup (p.Thr34fs)
FRAMESHIFT_VARIANT,FIVE_PRIME_UTR
1001703 Uncertain Significance: not provided 138,932,683(+) A/T
NM_001903.5(CTNNA1):c.2404A>T (p.Asn802Tyr)
MISSENSE_VARIANT,INTRON
1002050 Uncertain Significance: not provided 138,887,586(+) A/G
NM_001903.5(CTNNA1):c.1240A>G (p.Lys414Glu)
MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CTNNA1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CTNNA1 Gene

Variant ID Type Subtype PubMed ID
esv1333927 CNV deletion 17803354
esv2200225 CNV deletion 18987734
esv2659340 CNV deletion 23128226
esv2672371 CNV deletion 23128226
esv2675323 CNV deletion 23128226
esv2730822 CNV deletion 23290073
esv2730823 CNV deletion 23290073
esv2730824 CNV deletion 23290073
esv3606930 CNV loss 21293372
esv3606931 CNV loss 21293372
nsv1074873 CNV deletion 25765185
nsv1117989 CNV deletion 24896259
nsv472781 CNV novel sequence insertion 20440878
nsv473707 CNV novel sequence insertion 20440878
nsv958292 CNV deletion 24416366

Variation tolerance for CTNNA1 Gene

Residual Variation Intolerance Score: 3.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.58; 30.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTNNA1 Gene

Human Gene Mutation Database (HGMD)
CTNNA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTNNA1
Leiden Open Variation Database (LOVD)
CTNNA1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTNNA1 Gene

Disorders for CTNNA1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for CTNNA1 Gene - From: CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
macular dystrophy, patterned, 2
  • mdpt2
butterfly-shaped pigment dystrophy
  • butterfly-shaped pattern dystrophy
colorectal cancer
  • crc
diffuse gastric cancer
  • signet cell adenocarcinoma
gastric cancer, hereditary diffuse
  • hdgc
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CTNA1_HUMAN
  • Note=Germline CTNNA1 truncating mutations have been detected in patients with hereditary diffuse gastric cancer (HDGC) and may play a role in disease susceptibility. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. {ECO:0000269 PubMed:23208944, ECO:0000269 PubMed:26182300}.
  • Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970]: A form of retinal patterned dystrophy, a heterogeneous group of macular disorders caused by abnormal accumulation of lipofuscin in the retinal pigment epithelium. Lipofuscin distribution can show various shapes that define different types of macular dystrophy, including reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. MDPT2 is an autosomal dominant form characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly. {ECO:0000269 PubMed:26691986}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CTNNA1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CTNNA1: view

No data available for Genatlas for CTNNA1 Gene

Publications for CTNNA1 Gene

  1. Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. (PMID: 26691986) Saksens NT … den Hollander AI (Nature genetics 2016) 3 4 72
  2. An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer. (PMID: 23208944) Majewski IJ … Bernards R (The Journal of pathology 2013) 3 4 72
  3. Molecular cloning reveals alternative splice forms of human alpha(E)-catenin. (PMID: 7945318) Rimm DL … Morrow JS (Biochemical and biophysical research communications 1994) 3 4 22
  4. The uvomorulin-anchorage protein alpha catenin is a vinculin homologue. (PMID: 1924379) Herrenknecht K … Kemler R (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 22
  5. Cadherin 26 is an alpha integrin-binding epithelial receptor regulated during allergic inflammation. (PMID: 28051089) Caldwell JM … Rothenberg ME (Mucosal immunology 2017) 3 4

Products for CTNNA1 Gene

Sources for CTNNA1 Gene