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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CTNNA2
catenin alpha 2
Chromosome 2 · 2p12
NCBI Gene: 1496Ensembl: ENSG00000066032.19HGNC: HGNC:2510UniProt: F6KRI5
78PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
actin filament bindingregulation of neuron projection developmentprotein bindingcytoplasmcomplex cortical dysplasia with other brain malformationsHereditary breast and ovarian cancer syndromehereditary breast ovarian cancer syndromelung adenocarcinoma
✦AI Summary

CTNNA2 encodes αN-catenin, a cytoskeletal linker protein essential for nervous system development. It functions as a bridge between cadherin adhesion receptors and the actin cytoskeleton to regulate cell-cell adhesion 1. A key mechanism involves negative regulation of Arp2/3 complex-mediated actin polymerization; loss of αN-catenin leads to Arp2/3 de-repression and excessive actin branching that impairs neurite stability and neuronal migration 1. CTNNA2 regulates cortical neuronal migration, neurite growth, synaptic plasticity, and cerebellar-hippocampal lamination during development 1. The gene produces alternative N-terminally truncated isoforms through bidirectional transcription with intronic LRRTM1, with brain-enriched expression patterns; variants in this region associate with schizophrenia and handedness 2. Biallelic CTNNA2 mutations cause pachygyria, a severe cortical dysplasia characterized by abnormal neuronal migration 1. Additionally, CTNNA2 variants correlate with personality traits including excitement-seeking and risk-taking behaviors 3, and genetic variations associate with response to immunotherapy in small cell lung cancer 4. The gene represents the first catenin family member with documented biallelic human mutations causing developmental disease.

Sources cited
1
CTNNA2 loss causes defects in neurite stability and migration through Arp2/3 de-repression; biallelic mutations cause pachygyria
PMID: 30013181
2
CTNNA2 produces N-terminally truncated isoforms through bidirectional transcription with LRRTM1; variants associated with schizophrenia and handedness
PMID: 21708131
3
Common CTNNA2 variants (rs7600563) associate with excitement-seeking and risk-taking personality traits
PMID: 22833195
4
CTNNA2 sequence variations correlate with favorable progression-free and overall survival in small cell lung cancer patients receiving immunotherapy
PMID: 39541202
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
complex cortical dysplasia with other brain malformationsOpen Targets
0.73Strong
Hereditary breast and ovarian cancer syndromeOpen Targets
0.34Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.34Weak
lung adenocarcinomaOpen Targets
0.34Weak
diabetes mellitusOpen Targets
0.33Weak
knee fractureOpen Targets
0.32Weak
prostate adenocarcinomaOpen Targets
0.31Weak
Staphylococcus aureus infectionOpen Targets
0.30Weak
Abnormality of refractionOpen Targets
0.30Weak
attention deficit hyperactivity disorderOpen Targets
0.29Weak
osteoarthritis, handOpen Targets
0.28Weak
muscular atrophyOpen Targets
0.28Weak
heroin dependenceOpen Targets
0.28Weak
methamphetamine dependenceOpen Targets
0.28Weak
bipolar disorderOpen Targets
0.28Weak
musculoskeletal system diseaseOpen Targets
0.28Weak
alcohol dependenceOpen Targets
0.28Weak
glomerulonephritisOpen Targets
0.28Weak
male reproductive system diseaseOpen Targets
0.28Weak
tympanic membrane perforationOpen Targets
0.28Weak
Cortical dysplasia, complex, with other brain malformations 9UniProt
Pathogenic Variants8
NM_001282597.3(CTNNA2):c.1938_1939del (p.Asp646fs)Pathogenic
Cortical dysplasia, complex, with other brain malformations 9
★☆☆☆2023→ Residue 646
NM_001282597.3(CTNNA2):c.718del (p.Arg240fs)Likely pathogenic
Cortical dysplasia, complex, with other brain malformations 9
★☆☆☆2023→ Residue 240
NM_001282597.3(CTNNA2):c.103-1G>APathogenic
Hereditary breast ovarian cancer syndrome
★☆☆☆2020
NM_001282597.3(CTNNA2):c.544G>T (p.Glu182Ter)Likely pathogenic
Cortical dysplasia, complex, with other brain malformations 9
★☆☆☆→ Residue 182
NM_001282597.3(CTNNA2):c.1372dup (p.Leu458fs)Likely pathogenic
CTNNA2-related disorder
☆☆☆☆2024→ Residue 458
NM_001282597.3(CTNNA2):c.2788C>T (p.Arg930Ter)Pathogenic
Cortical dysplasia, complex, with other brain malformations 9
☆☆☆☆2018→ Residue 930
NM_001282597.3(CTNNA2):c.2341C>T (p.Arg781Ter)Pathogenic
Cortical dysplasia, complex, with other brain malformations 9
☆☆☆☆2018→ Residue 781
NM_001282597.3(CTNNA2):c.1480C>T (p.Arg494Ter)Pathogenic
Cortical dysplasia, complex, with other brain malformations 9
☆☆☆☆2018→ Residue 494
View on ClinVar ↗
Related Genes
CTNND1Protein interaction100%CTNNB1Protein interaction100%CTNND2Protein interaction99%VCLProtein interaction99%ACTG1Protein interaction99%ACTBProtein interaction98%
Tissue Expression6 tissues
Brain
100%
Heart
0%
Bone Marrow
0%
Liver
0%
Ovary
0%
Lung
0%
Gene Interaction Network
Click a node to explore
CTNNA2CTNND1CTNNB1CTNND2VCLACTG1ACTB
PROTEIN STRUCTURE
Preparing viewer…
PDB6DUW · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.37 [0.28–0.49]
RankingsWhere CTNNA2 stands among ~20K protein-coding genes
  • #6,061of 20,598
    Most Researched78
  • #3,065of 5,498
    Most Pathogenic Variants8
  • #2,897of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedCTNNA2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Toripalimab Plus Chemotherapy as a First-Line Therapy for Extensive-Stage Small Cell Lung Cancer: The Phase 3 EXTENTORCH Randomized Clinical Trial.
PMID: 39541202
JAMA Oncol · 2025
1.00
2
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
0.90
3
Bidirectional transcription from human LRRTM2/CTNNA1 and LRRTM1/CTNNA2 gene loci leads to expression of N-terminally truncated CTNNA1 and CTNNA2 isoforms.
PMID: 21708131
Biochem Biophys Res Commun · 2011
0.80
4
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
PMID: 30013181
Nat Genet · 2018
0.70
5
A novel intergenic (between REG3A and CTNNA2-AS1)-ALK fusion responds to alectinib in lung adenocarcinoma.
PMID: 37922771
Lung Cancer · 2023
0.60