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
Expression
All Expression Data
6 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dnm2a Human Ortholog
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
Associated With dnm2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Family IPR027188 Dynamin-2
Homologous_superfamily IPR011993 PH-like domain superfamily
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Domain Details Per Protein
Protein Length Dynamin Dynamin-2 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:Q4V8Z7 755
UniProtKB:A0A0R4IIR1 860
UniProtKB:T1SXK0 856
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations