Gene
obscnb
- ID
- ZDB-GENE-070119-5
- Name
- obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF b
- Symbol
- obscnb Nomenclature History
- Previous Names
-
- obscnl
- obscurin A (1)
- si:rp71-18a8.2
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to have guanyl-nucleotide exchange factor activity. Involved in myofibril assembly and retina development in camera-type eye. Localizes to M band. Is expressed in central nervous system; heart; retinal neural layer; skeletal muscle; and skeletal muscle cell. Orthologous to human OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| {Rhabdomyolysis, susceptibility to, 1} | 620235 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
obscnb-201
(1)
|
Ensembl | 4,440 nt | ||
| mRNA |
obscnb-202
(1)
|
Ensembl | 586 nt | ||
| mRNA |
obscnb-203
(1)
|
Ensembl | 3,255 nt | ||
| mRNA |
obscnb-204
(1)
|
Ensembl | 4,979 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-obscnl | polyclonal | IgG | Rabbit |
|
2 |
Plasmids
No data available