CTNNA2 catenin alpha 2
Gene ID: 1496, updated on 19-Sep-2024Gene type: protein coding
Also known as: CAPR; CTNR; CAP-R; CT114; CDCBM9
- See all available tests in GTR for this gene
- Go to complete Gene record for CTNNA2
- Go to Variation Viewer for CTNNA2 variants
Summary
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, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies protein quantitative trait loci (pQTLs). GeneReviews: Not available | |
| Cortical dysplasia, complex, with other brain malformations 9 | See labs |
| 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 | |
| Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia. GeneReviews: Not available |
Genomic context
- Location:
- 2p12
- Sequence:
- Chromosome: 2; NC_000002.12 (79185377..80648780)
- Total number of exons:
- 33
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CTNNA2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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