Gene
actn2a
- ID
- ZDB-GENE-141114-2
- Name
- actinin, alpha 2a
- Symbol
- actn2a Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Unmapped
- Description
- Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy 1AA. Is expressed in heart. Orthologous to human ACTN2 (actinin alpha 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myopathy 8 | Alliance | Congenital myopathy 8 | 618654 |
| dilated cardiomyopathy 1AA | Alliance | Cardiomyopathy, dilated, 1AA, with or without LVNC | 612158 |
| dilated cardiomyopathy 1AA | Alliance | Cardiomyopathy, hypertrophic, 23, with or without LVNC | 612158 |
| Myopathy, distal, 6, adult onset | 618655 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
- Genome Browsers
- No data available
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance