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DNM2 dynamin 2

Gene ID: 1785, updated on 17-Jan-2022
Gene type: protein coding
Also known as: DYN2; CMT2M; DYNII; LCCS5; CMTDI1; CMTDIB; DI-CMTB

Summary

Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Charcot-Marie-Tooth disease, dominant intermediate BSee labs
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
GeneReviews: Not available
Lethal congenital contracture syndrome 5
MedGen: C3809272OMIM: 615368GeneReviews: Not available
See labs
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Myopathy, centronuclear, 1
MedGen: C4551952OMIM: 160150GeneReviews: Not available
See labs

Genomic context

Location:
19p13.2
Sequence:
Chromosome: 19; NC_000019.10 (10718079..10831903)
Total number of exons:
22

Links

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