Gene
dnm2a
- ID
- ZDB-GENE-050913-84
- Name
- dynamin 2a
- Symbol
- dnm2a Nomenclature History
- Previous Names
-
- dnm2
- zgc:114072
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have GTPase activity and microtubule binding activity. Involved in several processes, including chordate embryonic development; convergent extension; and somite development. Predicted to localize to several cellular components, including dendritic spine head; postsynaptic density; and postsynaptic endocytic zone membrane. 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 several structures, including central nervous system; liver; otic vesicle; paraxial mesoderm; and pericardial region. Orthologous to human DNM2 (dynamin 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 5 publications
- Cross-Species Comparison
- Alliance
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:A0A0R4IIR1
|
860 | |||||||||||
UniProtKB:T1SXK0
|
856 | |||||||||||
UniProtKB:A0A8M9PW32
|
860 | |||||||||||
UniProtKB:A0A8M9P798
|
867 | |||||||||||
UniProtKB:A0A8M9PHU4
|
856 | |||||||||||
UniProtKB:Q4V8Z7
|
755 | |||||||||||
UniProtKB:A0A8M9PNW1
|
878 | |||||||||||
UniProtKB:A0A8M9PZL4
|
874 | |||||||||||
UniProtKB:A0A8M9PHT6
|
885 |
Interactions and Pathways
No data available
Plasmids