Human Gene DNM2 (uc002mps.2)
  Description: Homo sapiens dynamin 2 (DNM2), transcript variant 2, mRNA.
RefSeq Summary (NM_001005361): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:10,828,729-10,942,586 Size: 113,858 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr19:10,828,919-10,941,723 Size: 112,805 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:10,828,729-10,942,586)mRNA (may differ from genome)Protein (870 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E9PEQ4_HUMAN
DESCRIPTION: SubName: Full=Dynamin-2;
SIMILARITY: Belongs to the dynamin family.
SIMILARITY: Contains 1 GED domain.
SIMILARITY: Contains 1 PH domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DNM2
CDC HuGE Published Literature: DNM2
Positive Disease Associations: Coronary Disease , Lipoproteins, LDL
Related Studies:
  1. Coronary Disease
    Guillaume Lettre et al. PLoS genetics 2011, Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project., PLoS genetics. [PubMed 21347282]
    suggest that no major loci uniquely explain the high prevalence of CHD in African Americans.
  2. Lipoproteins, LDL
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: DNM2
Diseases sorted by gene-association score: centronuclear myopathy, autosomal, modifier of* (1650), lethal congenital contracture syndrome 5* (1579), charcot-marie-tooth disease, dominant intermediate b* (1566), dnm2-related intermediate charcot-marie-tooth neuropathy* (500), centronuclear myopathy* (439), autosomal dominant intermediate charcot-marie-tooth disease type b* (400), myotubular myopathy, x-linked* (283), boomerang dysplasia (11), giant axonal neuropathy-1 (11), clivus chordoma (10), giant axonal neuropathy 2 (9), charcot-marie-tooth disease, dominant intermediate a (9), charcot-marie-tooth disease (8), intermediate charcot-marie-tooth neuropathy (8), atelosteogenesis (8), charcot-marie-tooth disease, dominant intermediate c (7), tooth disease (6), brachial plexus neuritis (6), autosomal dominant nonsyndromic deafness 20 (5), myopathy (5), urofacial syndrome 1 (5), epidermolysis bullosa simplex with muscular dystrophy (5), charcot-marie-tooth disease, axonal, type 2k (4), muscle tissue disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 56.31 RPKM in Colon - Transverse
Total median expression: 1294.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -103.00190-0.542 Picture PostScript Text
3' UTR -443.80863-0.514 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022812 - Dynamin
IPR000375 - Dynamin_central
IPR001401 - Dynamin_GTPase
IPR019762 - Dynamin_GTPase_CS
IPR003130 - GED
IPR020850 - GTPase_effector_domain_GED
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF00169 - PH domain
PF00350 - Dynamin family
PF01031 - Dynamin central region
PF02212 - Dynamin GTPase effector domain

SCOP Domains:
50729 - PH domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on E9PEQ4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AB209213 - Homo sapiens mRNA for dynamin 2 isoform 4 variant protein.
AK312260 - Homo sapiens cDNA, FLJ92555.
BC054501 - Homo sapiens dynamin 2, mRNA (cDNA clone MGC:57679 IMAGE:6473791), complete cds.
L36983 - Homo sapiens dynamin (DNM) mRNA, complete cds.
BC039596 - Homo sapiens dynamin 2, mRNA (cDNA clone MGC:48834 IMAGE:5722134), complete cds.
AK289831 - Homo sapiens cDNA FLJ78533 complete cds, highly similar to Homo sapiens dynamin 2 (DNM2), transcript variant 4, mRNA.
KJ896719 - Synthetic construct Homo sapiens clone ccsbBroadEn_06113 DNM2 gene, encodes complete protein.
KR711376 - Synthetic construct Homo sapiens clone CCSBHm_00023195 DNM2 (DNM2) mRNA, encodes complete protein.
KR711377 - Synthetic construct Homo sapiens clone CCSBHm_00023196 DNM2 (DNM2) mRNA, encodes complete protein.
KR711378 - Synthetic construct Homo sapiens clone CCSBHm_00023200 DNM2 (DNM2) mRNA, encodes complete protein.
KR711379 - Synthetic construct Homo sapiens clone CCSBHm_00023207 DNM2 (DNM2) mRNA, encodes complete protein.
JD458052 - Sequence 439076 from Patent EP1572962.
JD057751 - Sequence 38775 from Patent EP1572962.
JD476130 - Sequence 457154 from Patent EP1572962.
AK295929 - Homo sapiens cDNA FLJ56447 complete cds, highly similar to Dynamin-2 (EC 3.6.5.5).
AY927542 - Homo sapiens mRNA sequence.
AK023207 - Homo sapiens cDNA FLJ13145 fis, clone NT2RP3003282, highly similar to Homo sapiens dynamin (DNM) mRNA.
AK097875 - Homo sapiens cDNA FLJ40556 fis, clone THYMU2002583, highly similar to DYNAMIN 2.
DQ594929 - Homo sapiens piRNA piR-61041, complete sequence.
AK127033 - Homo sapiens cDNA FLJ45089 fis, clone BRAWH3029385, highly similar to Dynamin 2 (EC 3.6.1.50).
AK124881 - Homo sapiens cDNA FLJ42891 fis, clone BRHIP3008405, highly similar to Dynamin 2 (EC 3.6.1.50).
AK126192 - Homo sapiens cDNA FLJ44204 fis, clone THYMU3001234, highly similar to Dynamin 2 (EC 3.6.1.50).
AK094984 - Homo sapiens cDNA FLJ37665 fis, clone BRHIP2011508, highly similar to Dynamin-2 (EC 3.6.5.5).
AK097989 - Homo sapiens cDNA FLJ40670 fis, clone THYMU2020959, highly similar to Dynamin-2 (EC 3.6.5.5).
AK097967 - Homo sapiens cDNA FLJ40648 fis, clone THYMU2017878, highly similar to DYNAMIN 2.
JD131530 - Sequence 112554 from Patent EP1572962.
JD055057 - Sequence 36081 from Patent EP1572962.
LF393202 - JP 2014520813-A/31: COMPOSITIONS AND METHODS FOR TREATING SKELETAL MYOPATHY.
JD215043 - Sequence 196067 from Patent EP1572962.
JD498441 - Sequence 479465 from Patent EP1572962.
JD077535 - Sequence 58559 from Patent EP1572962.
JD432688 - Sequence 413712 from Patent EP1572962.
JD112624 - Sequence 93648 from Patent EP1572962.
JD111502 - Sequence 92526 from Patent EP1572962.
JD225821 - Sequence 206845 from Patent EP1572962.
JD422067 - Sequence 403091 from Patent EP1572962.
JD503556 - Sequence 484580 from Patent EP1572962.
JD098327 - Sequence 79351 from Patent EP1572962.
JD105397 - Sequence 86421 from Patent EP1572962.
JD270986 - Sequence 252010 from Patent EP1572962.
JD131193 - Sequence 112217 from Patent EP1572962.
JD244692 - Sequence 225716 from Patent EP1572962.
JD358071 - Sequence 339095 from Patent EP1572962.
JD555614 - Sequence 536638 from Patent EP1572962.
JD254292 - Sequence 235316 from Patent EP1572962.
JD135283 - Sequence 116307 from Patent EP1572962.
JD178099 - Sequence 159123 from Patent EP1572962.
JD413085 - Sequence 394109 from Patent EP1572962.
JD026977 - Sequence 8001 from Patent EP1572962.
JD031917 - Sequence 12941 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis
hsa04666 - Fc gamma R-mediated phagocytosis
hsa05100 - Bacterial invasion of epithelial cells

BioCyc Knowledge Library
PWY3DJ-1 - cyclic AMP biosynthesis

-  Other Names for This Gene
  Alternate Gene Symbols: E9PEQ4, E9PEQ4_HUMAN, NM_001005361, NP_001005361
UCSC ID: uc002mps.2
RefSeq Accession: NM_001005361
Protein: E9PEQ4 CCDS: CCDS32908.1, CCDS45969.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DNM2:
cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001005361.2
exon count: 21CDS single in 3' UTR: no RNA size: 3684
ORF size: 2613CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5417.00frame shift in genome: no % Coverage: 99.51
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.