Gene
actn2b
- ID
- ZDB-GENE-051127-39
- Name
- actinin, alpha 2b
- Symbol
- actn2b Nomenclature History
- Previous Names
-
- actn2
- wu:fd44c03
- zgc:123223
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have actin binding activity and calcium ion binding activity. Involved in animal organ development and striated muscle cell development. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy 1AA. Is expressed in several structures, including brain; cardiovascular system; eye; muscle; and ovary. Orthologous to human ACTN2 (actinin alpha 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 2 publications
- 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 | 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:Q2YDR5
|
895 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
actn2b-201
(1)
|
Ensembl | 2,470 nt | ||
| mRNA |
actn2b-202
(1)
|
Ensembl | 2,986 nt |
Interactions and Pathways
No data available
Plasmids
No data available