Gene
desmb
- ID
- ZDB-GENE-061027-102
- Name
- desmin b
- Symbol
- desmb Nomenclature History
- Previous Names
-
- wu:fc11d08
- zgc:154009
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within locomotory behavior; muscle contraction; and skeletal muscle organ development. Predicted to be active in several cellular components, including Z disc; intermediate filament; and sarcolemma. Is expressed in cardiovascular system; intestine; musculature system; and somite. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human DES (desmin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 8 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 |
|---|---|---|---|
| dilated cardiomyopathy 1I | Alliance | Cardiomyopathy, dilated, 1I | 604765 |
| myofibrillar myopathy 1 | Alliance | Myopathy, myofibrillar, 1 | 601419 |
| neurogenic scapuloperoneal syndrome Kaeser type | Alliance | Scapuloperoneal syndrome, neurogenic, Kaeser type | 181400 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Intermediate filament head, DNA-binding domain | Intermediate filament protein, conserved site | Intermediate filament, rod domain | Intermediate filament structural protein |
|---|---|---|---|---|---|---|
| UniProtKB:Q05AI8 | InterPro | 474 | ||||
| UniProtKB:A0A8M9QFJ6 | InterPro | 461 |
Interactions and Pathways
No data available
Plasmids
No data available