Gene
myl2a
- ID
- ZDB-GENE-120917-2
- Name
- myosin, light chain 2a, regulatory, cardiac, slow
- Symbol
- myl2a Nomenclature History
- Previous Names
-
- mlc2a (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Predicted to be involved in cardiac muscle contraction; heart development; and muscle cell fate specification. Predicted to be active in myofibril. Is expressed in cardiovascular system; cephalic musculature; gill; muscle; and nervous system. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy; hypertrophic cardiomyopathy 10; and infantile-onset myofibrillar myopathy 12 with cardiomyopathy. Orthologous to human MYL2 (myosin light chain 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Feng et al., 2018
- 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 |
|---|---|---|---|
| hypertrophic cardiomyopathy 10 | Alliance | Cardiomyopathy, hypertrophic, 10 | 608758 |
| infantile-onset myofibrillar myopathy 12 with cardiomyopathy | Alliance | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | 619424 |
1 - 2 of 2
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | Myosin regulatory light chain |
|---|---|---|---|---|---|---|
| UniProtKB:E7FG54 | InterPro | 169 |
1 - 1 of 1
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available