Gene
myh6
- ID
- ZDB-GENE-031112-1
- Name
- myosin, heavy chain 6, cardiac muscle, alpha
- Symbol
- myh6 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity and microfilament motor activity. Acts upstream of or within heart contraction and heart development. Predicted to be part of myosin II complex. Predicted to be active in cytoplasm and myosin filament. Is expressed in cardiac muscle; heart primordium; heart rudiment; and pericardial region. Human ortholog(s) of this gene implicated in atrial heart septal defect (multiple); heart conduction disease (multiple); and intrinsic cardiomyopathy (multiple). Orthologous to human MYH6 (myosin heavy chain 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 169 figures from 136 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu557 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 32 figures from 12 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| atrial heart septal defect 3 | Alliance | ?Atrial septal defect 3 | 614089 |
| dilated cardiomyopathy 1EE | Alliance | Cardiomyopathy, dilated, 1EE | 613252 |
| hypertrophic cardiomyopathy 14 | Alliance | Cardiomyopathy, hypertrophic, 14 | 613251 |
| {Sick sinus syndrome 3} | 614090 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002928 | Myosin tail |
| Domain | IPR004009 | Myosin, N-terminal, SH3-like |
| Homologous_superfamily | IPR008989 | Myosin S1 fragment, N-terminal |
| Homologous_superfamily | IPR014751 | DNA repair protein XRCC4-like, C-terminal |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036961 | Kinesin motor domain superfamily |
Domain Details Per Protein
| Protein | Length | DNA repair protein XRCC4-like, C-terminal | Kinesin motor domain superfamily | Myosin, N-terminal, SH3-like | Myosin S1 fragment, N-terminal | Myosin tail | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q6YJK1
|
1936 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab-S46 | monoclonal | IgG1 , k | Mouse |
|
Developmental Studies Hybridoma Bank
|
127 |
Plasmids
No data available