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
- 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
No data available
No data available
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 |
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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
No data available
No data available
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| Genomic | GenBank:CABZ01111872 (1) |
- Comparative Orthology
- Alliance
- Rostad, K.O., Trognitz, T., Frøyset, A.K., Bifulco, E., Fladmark, K.E. (2024) Accelerated Sarcopenia Phenotype in the DJ-1/Park7-Knockout Zebrafish. Antioxidants (Basel, Switzerland). 13(12):
- Gou, D., Zhou, J., Song, Q., Wang, Z., Bai, X., Zhang, Y., Zuo, M., Wang, F., Chen, A., Yousaf, M., Yang, Z., Peng, H., Li, K., Xie, W., Tang, J., Yao, Y., Han, M., Ke, T., Chen, Q., Xu, C., Wang, Q. (2020) Mog1 knockout causes cardiac hypertrophy and heart failure by downregulating tbx5-cryab-hspb2 signaling in zebrafish. Acta physiologica (Oxford, England). 231(3):e13567
- Shih, Y.H., Zhang, Y., Ding, Y., Ross, C.A., Li, H., Olson, T.M., Xu, X. (2015) Cardiac Transcriptome and Dilated Cardiomyopathy Genes in Zebrafish. Circulation. Cardiovascular genetics. 8(2):261-9
- Lambert, M.J., Olsen, K.G., Cooper, C.D. (2014) Gene duplication followed by exon structure divergence substitutes for alternative splicing in zebrafish. Gene. 546(2):271-6
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