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DNM2 (dynamin 2)

Identity

Alias_symbol (synonym)DYNII
DYN2
CMTDIB
CMTDI1
DI-CMTB
CMT2M
Other aliasLCCS5
HGNC (Hugo) DNM2
LocusID (NCBI) 1785
Atlas_Id 52223
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 10718053 and ends at 10831910 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CARM1 (19p13.2) / DNM2 (19p13.2)DNM2 (19p13.2) / FDX1L (19p13.2)DNM2 (19p13.2) / ILF3 (19p13.2)
DNM2 (19p13.2) / KCNN1 (19p13.11)DNM2 (19p13.2) / MALAT1 (11q13.1)DNM2 (19p13.2) / MDFI (6p21.1)
DNM2 (19p13.2) / PDE4A (19p13.2)DNM2 (19p13.2) / PIN1 (19p13.2)DNM2 (19p13.2) / PPAN-P2RY11 (19p13.2)
DNM2 (19p13.2) / SLC44A2 (19p13.2)DNM2 (19p13.2) / ZGLP1 (19p13.2)LDLR (19p13.2) / DNM2 (19p13.2)
RPL18 (19q13.33) / DNM2 (19p13.2)SMARCA4 (19p13.2) / DNM2 (19p13.2)DNM2 19p13.2 / FDX1L 19p13.2
DNM2 19p13.2 / ILF3 19p13.2DNM2 19p13.2 / PDE4A 19p13.2DNM2 19p13.2 / PPAN-P2RY11 19p13.2
DNM2 19p13.2 / SLC44A2 19p13.2DNM2 19p13.2 / ZGLP1 19p13.2LDLR 19p13.2 / DNM2 19p13.2
SMARCA4 19p13.2 / DNM2 19p13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)DNM2   2974
LRG (Locus Reference Genomic)LRG_238
Cards
Entrez_Gene (NCBI)DNM2  1785  dynamin 2
AliasesCMT2M; CMTDI1; CMTDIB; DI-CMTB; 
DYN2; DYNII; LCCS5
GeneCards (Weizmann)DNM2
Ensembl hg19 (Hinxton)ENSG00000079805 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000079805 [Gene_View]  chr19:10718053-10831910 [Contig_View]  DNM2 [Vega]
ICGC DataPortalENSG00000079805
TCGA cBioPortalDNM2
AceView (NCBI)DNM2
Genatlas (Paris)DNM2
WikiGenes1785
SOURCE (Princeton)DNM2
Genetics Home Reference (NIH)DNM2
Genomic and cartography
GoldenPath hg38 (UCSC)DNM2  -     chr19:10718053-10831910 +  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNM2  -     19p13.2   [Description]    (hg19-Feb_2009)
EnsemblDNM2 - 19p13.2 [CytoView hg19]  DNM2 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIDNM2 [Mapview hg19]  DNM2 [Mapview hg38]
OMIM160150   602378   606482   615368   
Gene and transcription
Genbank (Entrez)AB209213 AK023207 AK094984 AK097875 AK097967
RefSeq transcript (Entrez)NM_001005360 NM_001005361 NM_001005362 NM_001190716 NM_004945
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNM2
Cluster EST : UnigeneHs.211463 [ NCBI ]
CGAP (NCI)Hs.211463
Alternative Splicing GalleryENSG00000079805
Gene ExpressionDNM2 [ NCBI-GEO ]   DNM2 [ EBI - ARRAY_EXPRESS ]   DNM2 [ SEEK ]   DNM2 [ MEM ]
Gene Expression Viewer (FireBrowse)DNM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1785
GTEX Portal (Tissue expression)DNM2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50570   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP50570  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50570
Splice isoforms : SwissVarP50570
PhosPhoSitePlusP50570
Domaine pattern : Prosite (Expaxy)G_DYNAMIN_1 (PS00410)    G_DYNAMIN_2 (PS51718)    GED (PS51388)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)DNM2    Dynamin_central    Dynamin_GTPase    Dynamin_GTPase_CS    Dynamin_SF    G_DYNAMIN_dom    GED    GED_dom    P-loop_NTPase    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)Dynamin_M (PF01031)    Dynamin_N (PF00350)    GED (PF02212)    PH (PF00169)   
Domain families : Pfam (NCBI)pfam01031    pfam00350    pfam02212    pfam00169   
Domain families : Smart (EMBL)DYNc (SM00053)  GED (SM00302)  PH (SM00233)  
Conserved Domain (NCBI)DNM2
DMDM Disease mutations1785
Blocks (Seattle)DNM2
PDB (SRS)2YS1   
PDB (PDBSum)2YS1   
PDB (IMB)2YS1   
PDB (RSDB)2YS1   
Structural Biology KnowledgeBase2YS1   
SCOP (Structural Classification of Proteins)2YS1   
CATH (Classification of proteins structures)2YS1   
SuperfamilyP50570
Human Protein AtlasENSG00000079805
Peptide AtlasP50570
HPRD03852
IPIIPI00033022   IPI00218889   IPI00444873   IPI01015103   IPI00556437   IPI00445318   IPI00514550   IPI00181352   IPI00980612   
Protein Interaction databases
DIP (DOE-UCLA)P50570
IntAct (EBI)P50570
FunCoupENSG00000079805
BioGRIDDNM2
STRING (EMBL)DNM2
ZODIACDNM2
Ontologies - Pathways
QuickGOP50570
Ontology : AmiGOG2/M transition of mitotic cell cycle  Golgi membrane  mitochondrial fission  phagocytic cup  photoreceptor inner segment  G-protein coupled receptor internalization  ventricular septum development  dynamin family protein polymerization involved in mitochondrial fission  GTPase activity  GTPase activity  GTPase activity  protein binding  GTP binding  nucleus  endosome  Golgi apparatus  trans-Golgi network  centrosome  cytosol  cytosol  microtubule  plasma membrane  clathrin-coated pit  focal adhesion  regulation of transcription, DNA-templated  Golgi to plasma membrane transport  endocytosis  receptor-mediated endocytosis  phagocytosis  signal transduction  spermatogenesis  microtubule binding  microtubule binding  response to light stimulus  positive regulation of lamellipodium assembly  postsynaptic density  SH3 domain binding  antigen processing and presentation of exogenous peptide antigen via MHC class II  enzyme binding  protein kinase binding  lamellipodium  growth cone  midbody  negative regulation of transforming growth factor beta receptor signaling pathway  regulation of axon extension  endocytic vesicle membrane  phagocytic vesicle membrane  receptor internalization  D2 dopamine receptor binding  mitochondrial membrane  protein complex binding  ruffle membrane  transferrin transport  regulation of Rac protein signal transduction  aorta development  phosphatidylinositol 3-kinase regulatory subunit binding  response to cocaine  positive regulation of apoptotic process  protein complex  macropinocytosis  postsynaptic membrane  clathrin-coated endocytic vesicle  positive regulation of nitric oxide biosynthetic process  positive regulation of transcription, DNA-templated  perinuclear region of cytoplasm  synaptic vesicle transport  neuron projection morphogenesis  WW domain binding  positive regulation of phagocytosis  nitric-oxide synthase binding  regulation of nitric-oxide synthase activity  coronary vasculature development  membrane organization  membrane fusion  extracellular exosome  cellular response to carbon monoxide  cellular response to X-ray  cellular response to nitric oxide  positive regulation of substrate adhesion-dependent cell spreading  negative regulation of non-motile cilium assembly  cellular response to dopamine  regulation of Golgi organization  positive regulation of sodium:potassium-exchanging ATPase activity  negative regulation of membrane tubulation  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  Golgi membrane  mitochondrial fission  phagocytic cup  photoreceptor inner segment  G-protein coupled receptor internalization  ventricular septum development  dynamin family protein polymerization involved in mitochondrial fission  GTPase activity  GTPase activity  GTPase activity  protein binding  GTP binding  nucleus  endosome  Golgi apparatus  trans-Golgi network  centrosome  cytosol  cytosol  microtubule  plasma membrane  clathrin-coated pit  focal adhesion  regulation of transcription, DNA-templated  Golgi to plasma membrane transport  endocytosis  receptor-mediated endocytosis  phagocytosis  signal transduction  spermatogenesis  microtubule binding  microtubule binding  response to light stimulus  positive regulation of lamellipodium assembly  postsynaptic density  SH3 domain binding  antigen processing and presentation of exogenous peptide antigen via MHC class II  enzyme binding  protein kinase binding  lamellipodium  growth cone  midbody  negative regulation of transforming growth factor beta receptor signaling pathway  regulation of axon extension  endocytic vesicle membrane  phagocytic vesicle membrane  receptor internalization  D2 dopamine receptor binding  mitochondrial membrane  protein complex binding  ruffle membrane  transferrin transport  regulation of Rac protein signal transduction  aorta development  phosphatidylinositol 3-kinase regulatory subunit binding  response to cocaine  positive regulation of apoptotic process  protein complex  macropinocytosis  postsynaptic membrane  clathrin-coated endocytic vesicle  positive regulation of nitric oxide biosynthetic process  positive regulation of transcription, DNA-templated  perinuclear region of cytoplasm  synaptic vesicle transport  neuron projection morphogenesis  WW domain binding  positive regulation of phagocytosis  nitric-oxide synthase binding  regulation of nitric-oxide synthase activity  coronary vasculature development  membrane organization  membrane fusion  extracellular exosome  cellular response to carbon monoxide  cellular response to X-ray  cellular response to nitric oxide  positive regulation of substrate adhesion-dependent cell spreading  negative regulation of non-motile cilium assembly  cellular response to dopamine  regulation of Golgi organization  positive regulation of sodium:potassium-exchanging ATPase activity  negative regulation of membrane tubulation  
Pathways : KEGGEndocytosis    Fc gamma R-mediated phagocytosis    Synaptic vesicle cycle    Endocrine and other factor-regulated calcium reabsorption    Bacterial invasion of epithelial cells   
NDEx NetworkDNM2
Atlas of Cancer Signalling NetworkDNM2
Wikipedia pathwaysDNM2
Orthology - Evolution
OrthoDB1785
GeneTree (enSembl)ENSG00000079805
Phylogenetic Trees/Animal Genes : TreeFamDNM2
HOVERGENP50570
HOGENOMP50570
Homologs : HomoloGeneDNM2
Homology/Alignments : Family Browser (UCSC)DNM2
Gene fusions - Rearrangements
Fusion : MitelmanDNM2/FDX1L [19p13.2/19p13.2]  
Fusion : MitelmanDNM2/ILF3 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
Fusion : MitelmanDNM2/KCNN1 [19p13.2/19p13.11]  [del(19)(p13p13)]  
Fusion : MitelmanDNM2/PDE4A [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
Fusion : MitelmanDNM2/PIN1 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
Fusion : MitelmanDNM2/PPAN-P2RY11 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
Fusion : MitelmanDNM2/SLC44A2 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
Fusion : MitelmanDNM2/ZGLP1 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
Fusion : MitelmanLDLR/DNM2 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
Fusion : MitelmanSMARCA4/DNM2 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
Fusion: TCGADNM2 19p13.2 FDX1L 19p13.2 SKCM
Fusion: TCGADNM2 19p13.2 ILF3 19p13.2 BRCA
Fusion: TCGADNM2 19p13.2 PDE4A 19p13.2 LGG
Fusion: TCGADNM2 19p13.2 PPAN-P2RY11 19p13.2 BRCA
Fusion: TCGADNM2 19p13.2 SLC44A2 19p13.2 BRCA
Fusion: TCGADNM2 19p13.2 ZGLP1 19p13.2 SKCM
Fusion: TCGALDLR 19p13.2 DNM2 19p13.2 HNSC
Fusion: TCGASMARCA4 19p13.2 DNM2 19p13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNM2
dbVarDNM2
ClinVarDNM2
1000_GenomesDNM2 
Exome Variant ServerDNM2
ExAC (Exome Aggregation Consortium)DNM2 (select the gene name)
Genetic variants : HAPMAP1785
Genomic Variants (DGV)DNM2 [DGVbeta]
DECIPHERDNM2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNM2 
Mutations
ICGC Data PortalDNM2 
TCGA Data PortalDNM2 
Broad Tumor PortalDNM2
OASIS PortalDNM2 [ Somatic mutations - Copy number]
Cancer Gene: CensusDNM2 
Somatic Mutations in Cancer : COSMICDNM2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDNM2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch DNM2
DgiDB (Drug Gene Interaction Database)DNM2
DoCM (Curated mutations)DNM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNM2 (select a term)
intoGenDNM2
Cancer3DDNM2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160150    602378    606482    615368   
Orphanet17834    19078    22296    14617   
MedgenDNM2
Genetic Testing Registry DNM2
NextProtP50570 [Medical]
TSGene1785
GENETestsDNM2
Target ValidationDNM2
Huge Navigator DNM2 [HugePedia]
snp3D : Map Gene to Disease1785
BioCentury BCIQDNM2
ClinGenDNM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1785
Chemical/Pharm GKB GenePA27442
Clinical trialDNM2
Miscellaneous
canSAR (ICR)DNM2 (select the gene name)
Probes
Litterature
PubMed197 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNM2
EVEXDNM2
GoPubMedDNM2
iHOPDNM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:05:49 CEST 2017

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