CTNNA2

Chr 2

catenin alpha 2

Also known as: CAP-R, CAPR, CDCBM9, CT114, CTNR

NCBI Gene: 1496 ENSG00000066032 UniProt: P26232

The protein functions as a linker between cadherin adhesion receptors and the cytoskeleton, regulating cortical neuronal migration and neurite growth by suppressing excessive actin branching. Mutations cause autosomal recessive cortical dysplasia with other brain malformations, affecting brain development during early life. The gene is highly constrained against loss-of-function variants, indicating its critical importance for normal neurological function.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCortical dysplasia, complex, with other brain malformations 9

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.38

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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