ZFIN is now using GRCz12tu for Genomic Data
Gene
actn2a
- ID
- ZDB-GENE-141114-2
- Name
- actinin, alpha 2a
- Symbol
- actn2a Nomenclature History
- Previous Names
-
- zgc:165653
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Is expressed in heart. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; congenital myopathy 8; and dilated cardiomyopathy 1AA. 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
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR001589 | Actinin-type actin-binding domain, conserved site |
| Domain | IPR001715 | Calponin homology domain |
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR014837 | EF-hand, Ca insensitive |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
| Repeat | IPR002017 | Spectrin repeat |
| Repeat | IPR018159 | Spectrin/alpha-actinin |
Domain Details Per Protein
| Protein | Additional Resources | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | EF-hand, Ca insensitive | EF-hand domain | EF-hand domain pair | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A5PLJ3 | InterPro | 151 | ||||||||
| UniProtKB:A0AB32TZT2 | InterPro | 896 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
zgc:165653-201
(1)
|
Ensembl | 1,015 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers