Gene
dnm2b
- ID
- ZDB-GENE-040426-2371
- Name
- dynamin 2b
- Symbol
- dnm2b Nomenclature History
- Previous Names
-
- dnm2l
- zgc:77233
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable GTPase activity and microtubule binding activity. Acts upstream of or within several processes, including glomerular filtration; muscle cell development; and podocyte development. Predicted to be active in several cellular components, including microtubule; plasma membrane; and synapse. Is expressed in brain; heart; liver; muscle; and spinal cord. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant intermediate B; centronuclear myopathy 1; and lethal congenital contracture syndrome. Orthologous to human DNM2 (dynamin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Gibbs et al., 2013
- 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 |
|---|---|---|---|
| centronuclear myopathy 1 | Alliance | Centronuclear myopathy 1 | 160150 |
| Charcot-Marie-Tooth disease dominant intermediate B | Alliance | Charcot-Marie-Tooth disease, axonal type 2M | 606482 |
| Charcot-Marie-Tooth disease dominant intermediate B | Alliance | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 |
| Lethal congenital contracture syndrome 5 | 615368 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Dynamin | Dynamin, GTPase domain | Dynamin GTPase effector | Dynamin, GTPase region, conserved site | Dynamin, N-terminal | Dynamin stalk domain | Dynamin-type guanine nucleotide-binding (G) domain | GTPase effector domain | PH-like domain superfamily | Pleckstrin homology domain | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6P122 | InterPro | 856 |
1 - 1 of 1
- Genome Browsers
Interactions and Pathways
No data available
Plasmids