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 have ATP binding activity; actin filament binding activity; and motor activity. Involved in heart contraction and heart development. Predicted to localize to myosin complex. Human ortholog(s) of this gene implicated in atrial heart septal defect (multiple); heart conduction disease (multiple); and intrinsic cardiomyopathy (multiple). Is expressed in cardiac muscle; heart primordium; heart rudiment; and pericardial region. 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