DNM2

DNM2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YS1
Identifiers
Aliases	DNM2, CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, LCCS5, dynamin 2
External IDs	OMIM: 602378; MGI: 109547; HomoloGene: 90883; GeneCards: DNM2; OMA:DNM2 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.2 Start 10,718,055 bp[1] End 10,833,488 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 A3|9 7.79 cM Start 21,336,204 bp[2] End 21,419,055 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte mucosa of transverse colon skin of leg right lung upper lobe of left lung rectum skin of abdomen body of stomach apex of heart gastric mucosa Top expressed in renal corpuscle ankle joint lip ascending aorta aortic valve medullary collecting duct endocardial cushion secondary oocyte spermatocyte esophagus More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding nitric-oxide synthase binding SH3 domain binding phosphatidylinositol 3-kinase regulatory subunit binding D2 dopamine receptor binding GTP binding protein binding WW domain binding protein-containing complex binding enzyme binding hydrolase activity protein kinase binding GTPase activity microtubule binding Cellular component endocytic vesicle membrane cytosol endosome centrosome Golgi apparatus postsynaptic membrane membrane postsynaptic density focal adhesion photoreceptor inner segment clathrin-coated endocytic vesicle Golgi membrane plasma membrane synapse ruffle membrane cell junction trans-Golgi network midbody growth cone perinuclear region of cytoplasm clathrin-coated pit phagocytic cup microtubule extracellular exosome cytoskeleton nucleus lamellipodium cell projection cytoplasmic vesicle phagocytic vesicle membrane cytoplasm mitochondrial membranes axon protein-containing complex dendritic spine dendritic spine head presynapse postsynaptic endocytic zone membrane glutamatergic synapse postsynaptic density, intracellular component Biological process negative regulation of membrane tubulation G protein-coupled receptor internalization positive regulation of phagocytosis neuron projection morphogenesis regulation of transcription, DNA-templated endocytosis regulation of axon extension ventricular septum development antigen processing and presentation of exogenous peptide antigen via MHC class II transferrin transport response to light stimulus cellular response to X-ray positive regulation of nitric oxide biosynthetic process cellular response to dopamine regulation of nitric-oxide synthase activity receptor internalization regulation of Rac protein signal transduction negative regulation of transforming growth factor beta receptor signaling pathway receptor-mediated endocytosis coronary vasculature development positive regulation of transcription, DNA-templated positive regulation of P-type sodium:potassium-exchanging transporter activity aorta development positive regulation of endocytosis positive regulation of substrate adhesion-dependent cell spreading regulation of Golgi organization G2/M transition of mitotic cell cycle macropinocytosis spermatogenesis positive regulation of apoptotic process synaptic vesicle transport cellular response to nitric oxide positive regulation of lamellipodium assembly Golgi to plasma membrane transport cellular response to carbon monoxide signal transduction response to cocaine phagocytosis mitochondrial fission dynamin family protein polymerization involved in mitochondrial fission membrane organization membrane fusion negative regulation of non-motile cilium assembly synaptic vesicle budding from presynaptic endocytic zone membrane synaptic vesicle endocytosis regulation of synapse structure or activity postsynaptic neurotransmitter receptor internalization positive regulation of clathrin-dependent endocytosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1785 13430 Ensembl ENSG00000079805 ENSMUSG00000033335 UniProt P50570 P39054 RefSeq (mRNA) NM_004945 NM_001005360 NM_001005361 NM_001005362 NM_001190716 NM_001039520 NM_001253893 NM_001253894 NM_007871 NM_001357718 NM_001357719 NM_001357721 RefSeq (protein) NP_001005360 NP_001005361 NP_001005362 NP_001177645 NP_004936 NP_001034609 NP_001240822 NP_001240823 NP_031897 NP_001344647 NP_001344648 NP_001344650 Location (UCSC) Chr 19: 10.72 – 10.83 Mb Chr 9: 21.34 – 21.42 Mb PubMed search [3] [4]
Wikidata
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Dynamin-2 is a protein that in humans is encoded by the DNM2 gene.^[5][6]

Function

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. Four alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined.^[7]

Interactions

DNM2 has been shown to interact with:

• SHANK1,^[8]
• SHANK2,^[8] and
• SNX9.^[9]

Clinical relevance

Mutations in this gene have been associated to cases of acute lymphoblastic leukaemia,^[10] or congenital myopathy (centronuclear type).^[11]

References

Further reading

External links

• GeneReviews/NIH/NCBI/UW entry on DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy or AD Charcot-Marie-Tooth Disease Type 2B
• HGNC Approved Gene Symbol: DNM2, Cytogenetic location: 19p13.2,Genomic coordinates (GRCh38): 19:10,718,052-10,831,909 (from NCBI)

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