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 cytoplasm and microtubule. 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
Expression
All Expression Data
from Gibbs et al., 2013
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dnm2b 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 dnm2b 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 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
Family IPR022812 Dynamin superfamily
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-2 Dynamin, GTPase domain Dynamin GTPase effector Dynamin, GTPase region, conserved site Dynamin superfamily Dynamin-type guanine nucleotide-binding (G) domain GTPase effector domain PH-like domain superfamily Pleckstrin homology domain P-loop containing nucleoside triphosphate hydrolase
UniProtKB:A0A0G2KXI9 432
UniProtKB:Q6P122 856
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations