DNM2 (dynamin 2)

2011-05-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
CMT2M,CMTDI1,CMTDIB,DI-CMTB,DYN2,DYNII,LCCS5
FUSION GENES

Other Information

Locus ID:

NCBI: 1785
MIM: 602378
HGNC: 2974
Ensembl: ENSG00000079805

Variants:

dbSNP: 1785
ClinVar: 1785
TCGA: ENSG00000079805
COSMIC: DNM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000079805ENST00000355667P50570
ENSG00000079805ENST00000359692P50570
ENSG00000079805ENST00000389253P50570
ENSG00000079805ENST00000408974P50570
ENSG00000079805ENST00000585892P50570
ENSG00000079805ENST00000586939K7EPK9
ENSG00000079805ENST00000587830K7EMQ3
ENSG00000079805ENST00000589106K7ENE7
ENSG00000079805ENST00000591818K7EMR9

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Fc gamma R-mediated phagocytosisKEGGko04666
Fc gamma R-mediated phagocytosisKEGGhsa04666
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 4 (TLR4) CascadeREACTOMER-HSA-166016
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Retrograde neurotrophin signallingREACTOMER-HSA-177504
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722
Lysosome Vesicle BiogenesisREACTOMER-HSA-432720
Gap junction trafficking and regulationREACTOMER-HSA-157858
Gap junction traffickingREACTOMER-HSA-190828
Gap junction degradationREACTOMER-HSA-190873
Formation of annular gap junctionsREACTOMER-HSA-196025
MetabolismREACTOMER-HSA-1430728
Metabolism of nitric oxideREACTOMER-HSA-202131
eNOS activation and regulationREACTOMER-HSA-203765
NOSTRIN mediated eNOS traffickingREACTOMER-HSA-203641
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Recycling pathway of L1REACTOMER-HSA-437239
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
162279972005Mutations in dynamin 2 cause dominant centronuclear myopathy.121
157317582005Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.89
117825452002Dynamin at actin tails.88
188175722008Centronuclear (myotubular) myopathy.83
174128362007Dynamin 2 is required for the enhancement of HIV-1 infectivity by Nef.70
248916022014Actin and dynamin2 dynamics and interplay during clathrin-mediated endocytosis.67
176260972007Human papillomavirus type 31 uses a caveolin 1- and dynamin 2-mediated entry pathway for infection of human keratinocytes.63
177027462007CD44 regulates hepatocyte growth factor-mediated vascular integrity. Role of c-Met, Tiam1/Rac1, dynamin 2, and cortactin.61
195282942009Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant.48
241451642013Lipid droplet breakdown requires dynamin 2 for vesiculation of autolysosomal tubules in hepatocytes.46

Citation

Dessen P

DNM2 (dynamin 2)

Atlas Genet Cytogenet Oncol Haematol. 2011-05-01

Online version: http://atlasgeneticsoncology.org/gene/52223/dnm2