Gene
myl2b
- ID
- ZDB-GENE-060331-137
- Name
- myosin, light chain 2b, regulatory, cardiac, slow
- Symbol
- myl2b Nomenclature History
- Previous Names
-
- mlc2b (1)
- myl2
- zgc:136848
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Acts upstream of or within heart morphogenesis. Predicted to be part of myosin complex. Predicted to be active in myofibril. Is expressed in several structures, including brain; eye; gill; heart; and musculature 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
- 6 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
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 |
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:A0A8M9Q9U1 | InterPro | 125 | ||||
| UniProtKB:Q24JV6 | InterPro | 168 | ||||
| UniProtKB:A0AB32TTL4 | InterPro | 149 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available