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dynamin 2 (DNM2, DYN2)
Function:
- microtubule-associated GTPase involved in producing microtubule bundles
- involved in vesicular trafficking processes, including endocytosis
- interacts with SHANK1, SHANK2, SH3BP4 & NOSTRIN
GTP + H2O GDP + phosphate
Structure:
- belongs to the dynamin family
- contains 1 GED domain
- contains 1 PH domain
Compartment:
- cytoplasm, cytoskeleton
- cell junction
- synapse, postsynaptic cell membrane, postsynaptic density
Alternative splicing: named isoforms=2
Expression: ubiquitously expressed
Pathology:
- defects in DNM2 are a cause of
a) centronuclear myopathy autosomal dominant
b) dominant intermediate Charcot-Marie-Tooth disease B
General
dynamin
phosphoprotein
Properties
SIZE: entity length = 870 aa
MW = 98 kD
COMPARTMENT: cytoplasm
MOTIF: GTP-binding site
SITE: 38-45
GTP-binding site
SITE: 136-140
GTP-binding site
SITE: 205-208
Ser phosphorylation site {S298}
Ser phosphorylation site {S302}
PH domain {519-625}
MOTIF: Tyr phosphorylation site {Y597}
GED {648-739}
Thr phosphorylation site {T766}
Database Correlations
OMIM correlations
MORBIDMAP 602378
UniProt P50570
PFAM correlations
Entrez Gene 1785
Kegg hsa:1785
ENZYME 3.6.5.5
References
- UniProt :accession P50570
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM2