ENSG00000079805


Homo sapiens

Features
Gene ID: ENSG00000079805
  
Biological name :DNM2
  
Synonyms : DNM2 / dynamin 2 / P50570
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.2
Gene start: 10718079
Gene end: 10833488
  
Corresponding Affymetrix probe sets: 1555895_at (Human Genome U133 Plus 2.0 Array)   202253_s_at (Human Genome U133 Plus 2.0 Array)   216024_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000468734
Ensembl peptide - ENSP00000347890
Ensembl peptide - ENSP00000352721
Ensembl peptide - ENSP00000373905
Ensembl peptide - ENSP00000466914
Ensembl peptide - ENSP00000467430
Ensembl peptide - ENSP00000386192
Ensembl peptide - ENSP00000466603
Ensembl peptide - ENSP00000466621
NCBI entrez gene - 1785     See in Manteia.
OMIM - 602378
RefSeq - NM_001005360
RefSeq - NM_001005362
RefSeq - NM_001190716
RefSeq - NM_004945
RefSeq - NM_001005361
RefSeq Peptide - NP_001005360
RefSeq Peptide - NP_001005362
RefSeq Peptide - NP_001177645
RefSeq Peptide - NP_004936
RefSeq Peptide - NP_001005361
swissprot - P50570
swissprot - K7EMQ3
swissprot - K7EMR9
swissprot - K7ENE7
swissprot - K7EPK9
Ensembl - ENSG00000079805
  
Related genetic diseases (OMIM): 160150 - Centronuclear myopathy 1, 160150
  606482 - Charcot-Marie-Tooth disease, axonal type 2M, 606482
  615368 - Lethal congenital contracture syndrome 5, 615368
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01084501.2ENSDARG00000113332Danio rerio
 dnm2bENSDARG00000103054Danio rerio
 Dnm2ENSMUSG00000033335Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DNM1 / Q05193 / dynamin 1ENSG0000010697679
DNM3 / Q9UQ16 / dynamin 3ENSG0000019795979
DNM1L / O00429 / dynamin 1 likeENSG0000008747035
MX1 / P20591 / MX dynamin like GTPase 1ENSG0000015760122
MX2 / P20592 / MX dynamin like GTPase 2ENSG0000018348621


Protein motifs (from Interpro)
Interpro ID Name
 IPR000375  Dynamin central domain
 IPR001401  Dynamin, GTPase domain
 IPR001849  Pleckstrin homology domain
 IPR003130  Dynamin GTPase effector
 IPR011993  PH-like domain superfamily
 IPR019762  Dynamin, GTPase region, conserved site
 IPR020850  GTPase effector domain
 IPR022812  Dynamin superfamily
 IPR027188  Dynamin-2
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR030381  Dynamin-type guanine nucleotide-binding (G) domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000086 G2/M transition of mitotic cell cycle NAS
 biological_processGO:0000266 mitochondrial fission IBA
 biological_processGO:0002031 G-protein coupled receptor internalization IEA
 biological_processGO:0003281 ventricular septum development IEA
 biological_processGO:0003374 dynamin family protein polymerization involved in mitochondrial fission IBA
 biological_processGO:0006355 regulation of transcription, DNA-templated NAS
 biological_processGO:0006893 Golgi to plasma membrane transport IEA
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0006898 receptor-mediated endocytosis ISS
 biological_processGO:0006909 phagocytosis IEA
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0009416 response to light stimulus IEA
 biological_processGO:0010592 positive regulation of lamellipodium assembly IEA
 biological_processGO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0030516 regulation of axon extension ISS
 biological_processGO:0031623 receptor internalization IMP
 biological_processGO:0033572 transferrin transport IMP
 biological_processGO:0035020 regulation of Rac protein signal transduction IEA
 biological_processGO:0035904 aorta development IEA
 biological_processGO:0042220 response to cocaine IEA
 biological_processGO:0043065 positive regulation of apoptotic process NAS
 biological_processGO:0044351 macropinocytosis IEA
 biological_processGO:0045429 positive regulation of nitric oxide biosynthetic process IEA
 biological_processGO:0045807 positive regulation of endocytosis IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated NAS
 biological_processGO:0048489 synaptic vesicle transport NAS
 biological_processGO:0048812 neuron projection morphogenesis ISS
 biological_processGO:0050766 positive regulation of phagocytosis IEA
 biological_processGO:0050999 regulation of nitric-oxide synthase activity TAS
 biological_processGO:0060976 coronary vasculature development IEA
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0061025 membrane fusion IBA
 biological_processGO:0071245 cellular response to carbon monoxide IEA
 biological_processGO:0071481 cellular response to X-ray IEA
 biological_processGO:0071732 cellular response to nitric oxide IEA
 biological_processGO:1900026 positive regulation of substrate adhesion-dependent cell spreading IEA
 biological_processGO:1902856 negative regulation of non-motile cilium assembly IEA
 biological_processGO:1903351 cellular response to dopamine IEA
 biological_processGO:1903358 regulation of Golgi organization IEA
 biological_processGO:1903408 positive regulation of sodium:potassium-exchanging ATPase activity IEA
 biological_processGO:1903526 negative regulation of membrane tubulation IDA
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0001891 phagocytic cup IEA
 cellular_componentGO:0001917 photoreceptor inner segment IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005802 trans-Golgi network IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005905 clathrin-coated pit ISS
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030027 lamellipodium IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030426 growth cone ISS
 cellular_componentGO:0030496 midbody IEA
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0030670 phagocytic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031966 mitochondrial membrane IBA
 cellular_componentGO:0032587 ruffle membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:0045334 clathrin-coated endocytic vesicle IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0008017 microtubule binding IBA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0017124 SH3 domain binding IDA
 molecular_functionGO:0019899 enzyme binding NAS
 molecular_functionGO:0019901 protein kinase binding IEA
 molecular_functionGO:0031749 D2 dopamine receptor binding IEA
 molecular_functionGO:0036312 phosphatidylinositol 3-kinase regulatory subunit binding IEA
 molecular_functionGO:0050699 WW domain binding IEA
 molecular_functionGO:0050998 nitric-oxide synthase binding IEA


Pathways (from Reactome)
Pathway description
Toll Like Receptor 4 (TLR4) Cascade
Retrograde neurotrophin signalling
Gap junction degradation
Formation of annular gap junctions
NOSTRIN mediated eNOS trafficking
MHC class II antigen presentation
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Recycling pathway of L1
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000544 External ophthalmoplegia 
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 HP:0000573 Retinal hemorrhage 
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 HP:0000762 Decreased nerve conduction velocities 
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 HP:0000764 Axonal degeneration 
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 HP:0000883 Thin ribs 
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 HP:0001265 Hyporeflexia 
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 HP:0001270 Motor retardation 
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 HP:0001284 Areflexia 
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001371 Contractures 
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 HP:0001425 Heterogeneous 
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 HP:0001518 Low birth weight 
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 HP:0001522 Death in infancy 
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 HP:0001558 Decreased fetal movement "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators]
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 HP:0001561 Polyhydramnios 
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 HP:0001761 Pes cavus 
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 HP:0002093 Respiratory insufficiency 
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 HP:0002460 Distal muscle weakness "Reduced strength of the distal musculature." [HPO:curators]
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 HP:0002803 Congenital contractures 
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 HP:0002936 Distal sensory impairment 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003380 Decreased number of myelinated fibers "A loss of myelinated nerve fibers (in general, this finding can be observed on nerve biopsy)." [HPO:curators]
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 HP:0003383 Onion bulb formations on nerve biopsy 
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 HP:0003388 Easy fatigability 
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 HP:0003481 Segmental demyelination/remyelination 
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 HP:0003577 Onset at birth 
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 HP:0003621 Juvenile onset 
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 HP:0003677 Slow progression 
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 HP:0003687 Centralized nuclei 
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 HP:0003693 Distal amyotrophy "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators]
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 HP:0003701 Proximal muscle weakness "A lack of strength of the proximal muscles." [HPO:curators]
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 HP:0003712 Muscle hypertrophy "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators]
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 HP:0005335 Sleepy facial expression 
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 HP:0007107 Segmental demyelination 
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 HP:0010628 Facial muscle weakness "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators]
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 HP:0040078 Axonal degeneration 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000019582 CD74 / P04233 / CD74 molecule  / complex / reaction
 ENSG00000106299 WASL / O00401 / Wiskott-Aldrich syndrome like  / complex / reaction
 ENSG00000122705 CLTA / P09496 / clathrin light chain A  / complex / reaction
 ENSG00000129354 AP1M2 / Q9Y6Q5 / adaptor related protein complex 1 mu 2 subunit  / complex / reaction
 ENSG00000072958 AP1M1 / Q9BXS5 / adaptor related protein complex 1 mu 1 subunit  / complex / reaction
 ENSG00000141367 CLTC / Q00610 / clathrin heavy chain  / complex / reaction
 ENSG00000166747 AP1G1 / O43747 / adaptor related protein complex 1 gamma 1 subunit  / complex / reaction
 ENSG00000152056 AP1S3 / Q96PC3 / adaptor related protein complex 1 sigma 3 subunit  / complex / reaction
 ENSG00000182287 AP1S2 / P56377 / adaptor related protein complex 1 sigma 2 subunit  / complex / reaction
 ENSG00000100280 AP1B1 / Q10567 / adaptor related protein complex 1 beta 1 subunit  / complex / reaction
 ENSG00000105974 CAV1 / Q03135 / caveolin 1  / complex / reaction
 ENSG00000163072 Q8IVI9 / NOSTRIN / nitric oxide synthase trafficking  / complex / reaction
 ENSG00000106367 AP1S1 / P61966 / adaptor related protein complex 1 sigma 1 subunit  / complex / reaction
 ENSG00000196735 P01909 / HLA-DQA1 / major histocompatibility complex, class II, DQ alpha 1  / complex / reaction
 ENSG00000122126 OCRL / Q01968 / OCRL, inositol polyphosphate-5-phosphatase  / complex / reaction
 ENSG00000078269 SYNJ2 / O15056 / synaptojanin 2  / complex / reaction
 ENSG00000164867 NOS3 / P29474 / nitric oxide synthase 3  / complex / reaction
 ENSG00000079805 DNM2 / P50570 / dynamin 2  / reaction
 ENSG00000204287 P01903 / HLA-DRA / major histocompatibility complex, class II, DR alpha  / reaction / complex
 ENSG00000237541 P01906 / HLA-DQA2 / major histocompatibility complex, class II, DQ alpha 2  / reaction / complex
 ENSG00000107295 Q99962 / SH3GL2 / SH3 domain containing GRB2 like 2, endophilin A1  / complex / reaction
 ENSG00000231389 P20036 / HLA-DPA1 / major histocompatibility complex, class II, DP alpha 1  / reaction / complex
 ENSG00000159082 SYNJ1 / O43426 / synaptojanin 1  / complex / reaction






 

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