ZFIN is now using GRCz12tu for Genomic Data
Gene
desma
- ID
- ZDB-GENE-980526-221
- Name
- desmin a
- Symbol
- desma Nomenclature History
- Previous Names
-
- des
- desm
- cb290 (1)
- wu:fb59a12
- zgc:109859
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within several processes, including regulation of calcium ion transport into cytosol; regulation of cardiac muscle contraction by calcium ion signaling; and sarcomere organization. Located in Z disc. Is expressed in several structures, including cardiovascular system; mesoderm; musculature system; pectoral fin; and somite. Used to study myofibrillar myopathy 1. 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
- 46 figures from 23 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb290 (15 images)
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 4 publications
- Cross-Species Comparison
- Alliance
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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| myofibrillar myopathy 1 | desmact122aGt/ct122aGt | control | Ramspacher et al., 2015 |
| myofibrillar myopathy 1 | desmasa5/sa5 | control | Ramspacher et al., 2015 |
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:F1R8W4 | InterPro | 473 | ||||
| UniProtKB:F1R8W3 | InterPro | 488 |
- Genome Browsers
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-desm | polyclonal | Rabbit |
|
Sigma-Aldrich
|
17 |
Plasmids
- Genome Browsers