CTNNA2 - catenin alpha 2 Gene
Also Known as CAPR; CTNR; CAP-R; CT114; CDCBM9
Species: Homo sapiens
About CTNNA2
This gene has 19 transcripts (splice variants), 136 orthologues, 4 paralogues and is associated with 115 phenotypes. Biased expression in brain (RPKM 26.7), testis (RPKM 6.2) and 1 other tissue.
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]
CTNNA2 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001164883.2 | NP_001158355.1 | catenin alpha-2 isoform 2 |
| NM_001282597.3 | NP_001269526.1 | catenin alpha-2 isoform 3 |
| NM_001282598.2 | NP_001269527.1 | catenin alpha-2 isoform 4 |
| NM_001282599.2 | NP_001269528.1 | catenin alpha-2 isoform 5 |
| NM_001282600.2 | NP_001269529.1 | catenin alpha-2 isoform 6 |
| NM_001320810.2 | NP_001307739.1 | catenin alpha-2 isoform 7 |
| NM_001399737.1 | NP_001386666.1 | catenin alpha-2 isoform 1 |
| NM_004389.4 | NP_004380.2 | catenin alpha-2 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables actin filament binding |
IDA
IDA: Inferred from direct assay
|
30013181 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16182284 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of Arp2/3 complex-mediated actin nucleation |
IMP
IMP: Inferred from mutant phenotype
|
30013181 | GOA |
| involved in regulation of neuron migration |
IMP
IMP: Inferred from mutant phenotype
|
30013181 | GOA |
| involved in regulation of neuron projection development |
IMP
IMP: Inferred from mutant phenotype
|
30013181 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
16182284 | GOA |
CTNNA2 Protein Structure
Vinculin: Vinculin family (18 - 332)
Vinculin: Vinculin family (336 - 914)
- 0
- 200
- 400
- 600
- 800
- 953 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
catenin alpha-2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
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| Hereditary Breast Ovarian Cancer Syndrome |
|
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| Complex Cortical Dysplasia With Other Brain Malformations |
|
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| Cerebellar Hypoplasia |
|
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| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
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| Blepharocheilodontic Syndrome 1 |
|
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| Cerebral Palsy |
|
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| Microcephaly |
|
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| Attention Deficit-Hyperactivity Disorder |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | CTNNA2 | VGNC | VGNC:71543 |
| Rattus norvegicus | CTNNA2 | RGD | RGD:1305060 |
| Mus musculus | CTNNA2 | MGD | MGI:88275 |
| Others | CTNNA2 | NCBI |