DNM2 (dynamin 2)

2011-05-01  

Identity

HGNC
DNM2
LOCATION
19p13.2
LOCUSID
1785
ALIAS
CMT2M,CMTDI1,CMTDIB,DI-CMTB,DYN2,DYNII,LCCS5
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
371161482023Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia.0
371397902023BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.3
379757632023[The dynamin-2-gene related centronuclear myopathy].0
371161482023Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia.0
371397902023BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.3
379757632023[The dynamin-2-gene related centronuclear myopathy].0
348374412022Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.3
352176052022BIN1 modulation in vivo rescues dynamin-related myopathy.0
359153492022Serum exosomal coronin 1A and dynamin 2 as neural tube defect biomarkers.2
360539622022Dynamin-2 regulates microtubule stability via an endocytosis-independent mechanism.2
361422752022Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca(2+)-Induced Exocytosis in Human Myoblasts.1
348374412022Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.3
352176052022BIN1 modulation in vivo rescues dynamin-related myopathy.0
359153492022Serum exosomal coronin 1A and dynamin 2 as neural tube defect biomarkers.2
360539622022Dynamin-2 regulates microtubule stability via an endocytosis-independent mechanism.2

Citation

Dessen P

DNM2 (dynamin 2)

Atlas Genet Cytogenet Oncol Haematol. 2011-05-01

Online version: http://atlasgeneticsoncology.org/gene/52223/dnm2-(dynamin-2)