dynamin 2 (DNM2, DYN2)
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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
Compartment
Alternative splicing
named isoforms=2
Expression
ubiquitously expressed
Pathology
- defects in DNM2 are a cause of
- centronuclear myopathy autosomal dominant
- dominant intermediate Charcot-Marie-Tooth disease B
More general terms
References
Database
- UniProt: http://www.uniprot.org/uniprot/P50570.html
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1785
- OMIM: https://mirror.omim.org/entry/160150
- OMIM: https://mirror.omim.org/entry/602378
- OMIM: https://mirror.omim.org/entry/606482
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1785