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 have GTP binding activity and GTPase activity. Involved in several processes, including glomerular filtration; glomerular visceral epithelial cell development; and muscle fiber development. Predicted to localize to microtubule. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant intermediate B; centronuclear myopathy 1; and lethal congenital contracture syndrome. Is expressed in brain; heart; liver; muscle; and spinal cord. 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 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019762 | Dynamin, GTPase region, conserved site |
| Domain | IPR000375 | Dynamin stalk domain |
| Domain | IPR001401 | Dynamin, GTPase domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR003130 | Dynamin GTPase effector |
| Domain | IPR020850 | GTPase effector domain |
| Domain | IPR030381 | Dynamin-type guanine nucleotide-binding (G) domain |
| Domain | IPR045063 | Dynamin, N-terminal |
| Family | IPR022812 | Dynamin |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | 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
|
856 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids