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Aliases for DNM2 Gene

Aliases for DNM2 Gene

  • Dynamin 2 2 3
  • Dynamin II 2 3
  • EC 3.6.5.5 4 63
  • CMTDI1 3 6
  • CMTDIB 3 6
  • CMT2M 3 6
  • LCCS5 3 6
  • DYN2 3 4
  • Cytoskeletal Protein 2
  • Dynamin-2 3
  • DI-CMTB 3
  • DYNII 3

External Ids for DNM2 Gene

Summaries for DNM2 Gene

Entrez Gene Summary for DNM2 Gene

  • 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. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]

GeneCards Summary for DNM2 Gene

DNM2 (Dynamin 2) is a Protein Coding gene. Diseases associated with DNM2 include charcot-marie-tooth disease, dominant intermediate b and lethal congenital contracture syndrome 5. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include GTP binding and protein kinase binding. An important paralog of this gene is MX1.

UniProtKB/Swiss-Prot for DNM2 Gene

  • Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Plays an important role in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis.

Tocris Summary for DNM2 Gene

  • Dynamin is a GTPase that is involved in endocytosis. GTPases are a group of enzymes that catalyze hydrolysis of the gamma phosphate bond in guanine triphosphate (GTP) to form guanine diphosphate (GDP). Mg2+ is essential for catalytic activity. GTPases are often coupled to G proteins and have essential roles in signal transduction, protein synthesis and translocation, control of cell growth and differentiation and vesicular transport regulation.

Gene Wiki entry for DNM2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNM2 Gene

Genomics for DNM2 Gene

Genomic Location for DNM2 Gene

Start:
10,718,053 bp from pter
End:
10,833,488 bp from pter
Size:
115,436 bases
Orientation:
Plus strand

Genomic View for DNM2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DNM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNM2 Gene

Regulatory Elements for DNM2 Gene

Transcription factor binding sites by QIAGEN in the DNM2 gene promoter:

Proteins for DNM2 Gene

  • Protein details for DNM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50570-DYN2_HUMAN
    Recommended name:
    Dynamin-2
    Protein Accession:
    P50570
    Secondary Accessions:
    • A8K1B6
    • E7EV30
    • E9PEQ4
    • K7ESI9
    • Q5I0Y0
    • Q7Z5S3
    • Q9UPH4

    Protein attributes for DNM2 Gene

    Size:
    870 amino acids
    Molecular mass:
    98064 Da
    Quaternary structure:
    • Interacts with MYOF (By similarity). Interacts with CTTN and ACTN1 (By similarity). Interacts with SHANK1, SHANK2, SH3BP4 and NOSTRIN. Interacts with SNX9. Interacts with SNX33 (via SH3 domain). Interacts with MYO1E (via SH3 domain). Interacts with PSTPIP1.
    Miscellaneous:
    • Overexpression of CNM- and CMT-related DNM2 mutants in COS7 cells, whatever the mutated domain, led to a reduction in clathrin-mediated receptor endocytosis associated with MAPK ERK-1 and ERK-2 impairment. The membrane trafficking impairment process may represent a common pathophysiological pathway in the autosomal forms of CNM DNM2-CMT neuropathy

    Three dimensional structures from OCA and Proteopedia for DNM2 Gene

    Alternative splice isoforms for DNM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNM2 Gene

Proteomics data for DNM2 Gene at MOPED

Post-translational modifications for DNM2 Gene

  • Phosphorylation at Ser-764 by CDK1 is greatly increased upon mitotic entry. It regulates cytokinesis downstream of calcineurin, and does not affect clathrin-mediated endocytosis. Dephosphorylated by calcineurin/PP2 (By similarity). Phosphorylated on tyrosine residues after activation of SRC (By similarity).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys223, Lys257, Lys393, and Lys669

Domains for DNM2 Gene

Gene Families for DNM2 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing

Graphical View of Domain Structure for InterPro Entry

P50570

UniProtKB/Swiss-Prot:

DYN2_HUMAN
Domain:
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.:
    • P50570
  • Contains 1 GED domain.:
    • P50570
  • Contains 1 PH domain.:
    • P50570
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.:
    • P50570
genes like me logo Genes that share domains with DNM2: view

Function for DNM2 Gene

Molecular function for DNM2 Gene

GENATLAS Biochemistry: dynamin 2,large GTPase,ubiquitously expressed,predominantly in skeletal muscle and heart,potentially involved in the G2/mitosis transition
UniProtKB/Swiss-Prot CatalyticActivity: GTP + H(2)O = GDP + phosphate
UniProtKB/Swiss-Prot Function: Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Plays an important role in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis.

Enzyme Numbers (IUBMB) for DNM2 Gene

Gene Ontology (GO) - Molecular Function for DNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS --
GO:0005515 protein binding IPI 11583995
GO:0005525 GTP binding NAS 7590285
GO:0008017 microtubule binding NAS 7590285
GO:0017124 SH3 domain binding IDA 18388313
genes like me logo Genes that share ontologies with DNM2: view
genes like me logo Genes that share phenotypes with DNM2: view

miRNA for DNM2 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for DNM2 Gene

Localization for DNM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNM2 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell junction. Membrane, clathrin-coated pit. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse. Midbody. Note=Colocalizes with CTTN at the basis of filopodia in hippocampus neuron growth zones (By similarity). Microtubule-associated. Also found in the postsynaptic density of neuronal cells. {ECO:0000250 UniProtKB:P39052}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNM2 Gene COMPARTMENTS Subcellular localization image for DNM2 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
golgi apparatus 4
plasma membrane 4
endosome 2
extracellular 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol TAS --
GO:0005874 microtubule IDA 21525035
genes like me logo Genes that share ontologies with DNM2: view

Pathways for DNM2 Gene

genes like me logo Genes that share pathways with DNM2: view

Gene Ontology (GO) - Biological Process for DNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle NAS 7590285
GO:0006184 obsolete GTP catabolic process --
GO:0006355 regulation of transcription, DNA-templated NAS 10893263
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0006897 endocytosis NAS 10101292
genes like me logo Genes that share ontologies with DNM2: view

Compounds for DNM2 Gene

(5) Tocris Compounds for DNM2 Gene

Compound Action Cas Number
8CPT-2Me-cAMP, sodium salt Selective Epac activator [510774-50-2]
Dynamin inhibitory peptide, myristoylated (control) Control peptide version of dynamin inhibitory peptide, myristoylated (Cat. No. 1775)
Dynasore Non-competitive dynamin inhibitor [304448-55-3]
HJC 0350 Selective Epac2 inhibitor [885434-70-8]
ML 141 Selective inhibitor of Cdc42 Rho family GTPase [71203-35-5]

(4) HMDB Compounds for DNM2 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine triphosphate
  • 5'-GTP
86-01-1
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(10) Novoseek inferred chemical compound relationships for DNM2 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 37.8 9
gtp 35.8 7
gdp 33.2 1
phosphoinositide 32.3 2
phosphatidylinositol 26.8 5
genes like me logo Genes that share compounds with DNM2: view

Transcripts for DNM2 Gene

mRNA/cDNA for DNM2 Gene

(5) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(22) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DNM2 Gene

Dynamin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNM2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^
SP1: - - - - - - -
SP2: - - -
SP3:
SP4: - - -
SP5:
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11: -

ExUns: 19a · 19b · 19c ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23 ^ 24
SP1: - - - -
SP2: - - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10: -
SP11:

Relevant External Links for DNM2 Gene

GeneLoc Exon Structure for
DNM2
ECgene alternative splicing isoforms for
DNM2

Expression for DNM2 Gene

mRNA expression in normal human tissues for DNM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNM2 Gene

This gene is overexpressed in Whole Blood (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DNM2 Gene

SOURCE GeneReport for Unigene cluster for DNM2 Gene Hs.211463

mRNA Expression by UniProt/SwissProt for DNM2 Gene

P50570-DYN2_HUMAN
Tissue specificity: Ubiquitously expressed
genes like me logo Genes that share expressions with DNM2: view

Orthologs for DNM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNM2 35
  • 97.42 (n)
  • 97.95 (a)
DNM2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNM2 35
  • 90.71 (n)
  • 96.18 (a)
DNM2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNM2 35
  • 90.84 (n)
  • 96.54 (a)
DNM2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnm2 35
  • 88.01 (n)
  • 96.78 (a)
Dnm2 16
Dnm2 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNM2 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNM2 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnm2 35
  • 88.81 (n)
  • 96.67 (a)
chicken
(Gallus gallus)
Aves DNM2 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNM2 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnm2 35
  • 79.36 (n)
  • 90.97 (a)
zebrafish
(Danio rerio)
Actinopterygii DNM2 (1 of 2) 36
  • 70 (a)
OneToMany
dnm2a 36
  • 88 (a)
OneToMany
dnm2b 35
  • 77.5 (n)
  • 84.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta shi 37
  • 68 (a)
worm
(Caenorhabditis elegans)
Secernentea dyn-1 37
  • 67 (a)
Species with no ortholog for DNM2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNM2 Gene

ENSEMBL:
Gene Tree for DNM2 (if available)
TreeFam:
Gene Tree for DNM2 (if available)

Paralogs for DNM2 Gene

Paralogs for DNM2 Gene

Selected SIMAP similar genes for DNM2 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for DNM2 Gene

genes like me logo Genes that share paralogs with DNM2: view

Variants for DNM2 Gene

Sequence variations from dbSNP and Humsavar for DNM2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs714307 -- 10,724,729(+) CGCTA(C/T)TGCTG intron-variant
rs734535 -- 10,736,622(-) CTaaa(A/C)aaaca intron-variant
rs873015 -- 10,784,246(-) CCCCC(A/G)TTAGA intron-variant
rs873016 -- 10,784,052(-) TAATA(C/T)CATTT intron-variant
rs892086 -- 10,727,001(-) TGGTA(C/T)CTAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNM2 Gene

Variant ID Type Subtype PubMed ID
nsv833745 CNV Loss 17160897
nsv911047 CNV Loss 21882294
nsv833746 CNV Loss 17160897
esv2718170 CNV Deletion 23290073
nsv833748 CNV Loss 17160897
nsv138450 CNV Loss 16902084
nsv911049 CNV Loss 21882294
nsv2416 CNV Insertion 18451855
esv2718171 CNV Deletion 23290073

Relevant External Links for DNM2 Gene

HapMap Linkage Disequilibrium report
DNM2
Human Gene Mutation Database (HGMD)
DNM2
Locus Specific Mutation Databases (LSDB)
DNM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNM2 Gene

Disorders for DNM2 Gene

(3) OMIM Diseases for DNM2 Gene (602378)

UniProtKB/Swiss-Prot

DYN2_HUMAN
  • Myopathy, centronuclear, 1 (CNM1) [MIM:160150]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. {ECO:0000269 PubMed:16227997, ECO:0000269 PubMed:17825552, ECO:0000269 PubMed:17932957, ECO:0000269 PubMed:19122038, ECO:0000269 PubMed:19623537, ECO:0000269 PubMed:19932619, ECO:0000269 PubMed:19932620, ECO:0000269 PubMed:20227276, ECO:0000269 PubMed:22396310}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lethal congenital contracture syndrome 5 (LCCS5) [MIM:615368]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269 PubMed:23092955}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB) [MIM:606482]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type B is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269 PubMed:15731758}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2M (CMT2M) [MIM:606482]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:17636067, ECO:0000269 PubMed:18560793}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for DNM2 Gene

(4) Novoseek inferred disease relationships for DNM2 Gene

Disease -log(P) Hits PubMed IDs
centronuclear myopathy 91.2 25
myopathy, congenital 77.7 1
charcot-marie-tooth disease 75.8 17
tumors 0 3

Relevant External Links for DNM2

Genetic Association Database (GAD)
DNM2
Human Genome Epidemiology (HuGE) Navigator
DNM2
genes like me logo Genes that share disorders with DNM2: view

Publications for DNM2 Gene

  1. Isolation of an ubiquitously expressed cDNA encoding human dynamin II, a member of the large GTP-binding protein family. (PMID: 7590285) Diatloff-Zito C. … Merlin G. (Gene 1995) 2 3 4 23
  2. Dynamin genes Dnm1 and Dnm2 are located on proximal mouse chromosomes 2 and 9, respectively. (PMID: 9143510) Klocke R. … Jockusch H. (Genomics 1997) 2 3 23
  3. Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton. (PMID: 11583995) Okamoto P.M. … Vallee R.B. (J. Biol. Chem. 2001) 3 4 23
  4. Mutations in dynamin 2 cause dominant centronuclear myopathy. (PMID: 16227997) Bitoun M. … Guicheney P. (Nat. Genet. 2005) 3 4 23
  5. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. (PMID: 15731758) Zuechner S. … Vance J.M. (Nat. Genet. 2005) 3 4 23

Products for DNM2 Gene

  • Addgene plasmids for DNM2

Sources for DNM2 Gene

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