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 have calcium ion binding activity. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy and hypertrophic cardiomyopathy 10. Is expressed in several structures, including brain; eye; gill; heart; and musculature system. 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 |
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | 619424 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair |
---|---|---|---|---|
UniProtKB:A0A8M9Q9U1
|
125 | |||
UniProtKB:Q24JV6
|
168 |
Interactions and Pathways
No data available
Plasmids
No data available