CTNNA2 Chromosome 2
Catenin alpha 2
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What This Gene Does
Enables actin filament binding activity. Involved in negative regulation of Arp2/3 complex-mediated actin nucleation; regulation of neuron migration; and regulation of neuron projection development. Located in cytoplasm. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Alpha catenins
Locus Type
gene with protein product
Location
2p12
Ensembl
ENSG00000066032
Associated Conditions (4)
Cortical dysplasia
complex
with other brain malformations 9
Hereditary breast ovarian cancer syndrome
Key Variants
RS2467103861
Likely pathogenic
Cortical dysplasia, complex, with other brain malformations 9
Health Risk
RS1413537928
Pathogenic
Cortical dysplasia, complex, with other brain malformations 9
Health Risk
RS2104990962
Pathogenic
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS2468044149
Pathogenic
Cortical dysplasia, complex, with other brain malformations 9
Health Risk
RS760139097
Pathogenic
Cortical dysplasia, complex, with other brain malformations 9
Health Risk
RS778294237
Pathogenic
Cortical dysplasia, complex, with other brain malformations 9
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2467103861 | Health Risk | Likely pathogenic | Cortical dysplasia, complex, with other brain malformations 9 |
| RS1413537928 | Health Risk | Pathogenic | Cortical dysplasia, complex, with other brain malformations 9 |
| RS2104990962 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2468044149 | Health Risk | Pathogenic | Cortical dysplasia, complex, with other brain malformations 9 |
| RS760139097 | Health Risk | Pathogenic | Cortical dysplasia, complex, with other brain malformations 9 |
| RS778294237 | Health Risk | Pathogenic | Cortical dysplasia, complex, with other brain malformations 9 |