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DNM2 Gene

protein-coding   GIFtS: 73
GCID: GC19P010824

Dynamin 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dynamin 21 2     CMTDIB2 5
Dynamin II1 2     LCCS52 5
DYN22 3     Cytoskeletal Protein1
EC 3.6.5.53 8     DI-CMTB2
CMT2M2 5     DYNII2
CMTDI12 5     dynamin-22

External Ids:    HGNC: 29741   Entrez Gene: 17852   Ensembl: ENSG000000798057   OMIM: 6023785   UniProtKB: P505703   

Export aliases for DNM2 gene to outside databases

Previous GC identifers: GC19P010959 GC19P011051 GC19P010673 GC19P010689 GC19P010405


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 centronuclear myopathy, and centronuclear myopathy 1. GO annotations related to this gene include protein kinase binding and GTP binding. An important paralog of this gene is DNM1.

UniProtKB/Swiss-Prot: DYN2_HUMAN, P50570
Function: Microtubule-associated force-producing protein involved in producing microtubule bundles and able to
bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis.
Involved in cytokinesis

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the DNM2 gene promoter:
         STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): DNM2 promoter sequence
   Search Chromatin IP Primers for DNM2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNM2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p

DNM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNM2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P010824:  view genomic region     (about GC identifiers)

Start:
10,828,729 bp from pter      End:
10,944,164 bp from pter
Size:
115,436 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DYN2_HUMAN, P50570 (See protein sequence)
Recommended Name: Dynamin-2  
Size: 870 amino acids; 98064 Da
Subunit: Interacts with MYOF (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
1 PDB 3D structure from and Proteopedia for DNM2:
2YS1 (3D)    
Secondary accessions: A8K1B6 E7EV30 E9PEQ4 K7ESI9 Q5I0Y0 Q7Z5S3 Q9UPH4
Alternative splicing: 5 isoforms:  P50570-1   P50570-2   P50570-3   P50570-4   P50570-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DNM2: NX_P50570

Explore proteomics data for DNM2 at MOPED

Post-translational modifications: 

  • 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)1
  • Ubiquitination2 at Lys223, Lys257, Lys393, Lys669
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DNM2 (P50570) (see all 39)
     SLSWYKD  AEFLHCK  GVVNRSQ  RPTIIRP 


    See DNM2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001005360.1  NP_001005361.1  NP_001005362.1  NP_001177645.1  NP_004936.2  

    ENSEMBL proteins: 
     ENSP00000468734   ENSP00000352721   ENSP00000373905   ENSP00000347890   ENSP00000386192  
     ENSP00000467430   ENSP00000466603   ENSP00000466914   ENSP00000466621   ENSP00000313164  
    Reactome Protein details: P50570

    DNM2 Human Recombinant Protein Products:

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    Novus Biologicals DNM2 Proteins
    Novus Biologicals DNM2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DNM2

    DNM2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DNM2
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for DNM2  (DYN2)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DNM2
    Novus Biologicals DNM2 Antibodies
    Abcam antibodies for DNM2
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    ThermoFisher Antibody for DNM2
    LSBio Antibodies in human, mouse, rat for DNM2

    DNM2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DNM2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DNM2
    Cloud-Clone Corp. CLIAs for DNM2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing

    Selected InterPro protein domains (see all 10):
     IPR003130 GED
     IPR001401 Dynamin_GTPase
     IPR020850 GTPase_effector_domain_GED
     IPR027417 P-loop_NTPase
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry P50570

    ProtoNet protein and cluster: P50570

    2 Blocks protein domains:
    IPB001401 Dynamin
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: DYN2_HUMAN, P50570
    Similarity: Belongs to the dynamin family
    Similarity: Contains 1 GED domain
    Similarity: Contains 1 PH domain


    DNM2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DYN2_HUMAN, P50570
    Function: Microtubule-associated force-producing protein involved in producing microtubule bundles and able to
    bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis.
    Involved in cytokinesis
    Catalytic activity: GTP + H(2)O = GDP + phosphate

         Genatlas biochemistry entry for DNM2:
    dynamin 2,large GTPase,ubiquitously expressed,predominantly in skeletal muscle and heart,potentially involved in
    the G2/mitosis transition

         Enzyme Number (IUBMB): EC 3.6.5.51 2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS--
    GO:0005515protein binding IPI11583995
    GO:0005525GTP binding NAS7590285
    GO:0008017microtubule binding NAS7590285
    GO:0019899enzyme binding NAS11583995
         
    DNM2 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dnm2):
     cellular  growth/size/body  mortality/aging  muscle  normal 

    DNM2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNM2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DNM2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DNM2

    miRNA
    Products:
        
    miRTarBase miRNAs that target DNM2:
    hsa-mir-124-3p (MIRT002670), hsa-mir-92a-3p (MIRT049062), hsa-mir-130a-3p (MIRT007139), hsa-mir-615-3p (MIRT040188)

    Block miRNA regulation of human, mouse, rat DNM2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DNM2 (see all 27):
    hsa-miR-623 hsa-miR-106a hsa-miR-301a hsa-miR-519a hsa-miR-633 hsa-miR-124 hsa-miR-204 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidDNM2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DNM2
    Predesigned siRNA for gene silencing in human, mouse, rat DNM2

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for DNM2

    Clone
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    OriGene clones in human, mouse for DNM2 (see all 28)
    OriGene ORF clones in mouse, rat for DNM2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): DNM2 (NM_001190716)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNM2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DNM2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNM2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DYN2_HUMAN, P50570: Cytoplasm. Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic cell membrane,
    postsynaptic density. Cell junction, synapse. Midbody. Note=Microtubule-associated. Also found in the
    postsynaptic density of neuronal cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    golgi apparatus4
    plasma membrane4
    endosome2
    extracellular2
    nucleus2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005634nucleus ----
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005829cytosol TAS--

    DNM2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DNM2 About   (see all 27)  
    See pathways by source

    SuperPathContained pathways About
    1Endocytic Trafficking of EGFR
    Endocytic Trafficking of EGFR0.36
    Cholesterol and Sphingolipids transport Influx to the early endosome in lung normal and CF 0.35
    Retrograde neurotrophin signalling0.36
    Recycling pathway of L10.33
    2Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    Transport Clathrin coated vesicle cycle0.66
    3Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    4Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    Lysosome Vesicle Biogenesis0.41
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    trans-Golgi Network Vesicle Budding0.89
    5Gap junction trafficking
    Gap junction trafficking0.93
    Formation of annular gap junctions0.00
    Gap junction trafficking and regulation0.93
    Gap junction degradation0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for DNM2
        Notch Signaling Pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DNM2
        Endocytic Trafficking of EGFR
    G-Beta Gamma Signaling
    Remodeling of Adherens Junctions
    eNOS Signaling
    GnRH Signaling

    1 Cell Signaling Technology (CST) Pathway for DNM2
        Cytoskeletal Signaling

    4 GeneGo (Thomson Reuters) Pathways for DNM2
        G-protein signaling G-Protein beta/gamma signaling cascades
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    5 BioSystems Pathways for DNM2
        IL-5 Signaling Pathway
    Synaptic Vesicle Pathway
    Arf6 trafficking events
    Syndecan-4-mediated signaling events
    PDGFR-beta signaling pathway

    Selected Reactome Pathways for DNM2 (see all 9)
        Recycling pathway of L1
    NOSTRIN mediated eNOS trafficking
    Gap junction degradation
    Toll Like Receptor 4 (TLR4) Cascade
    Golgi Associated Vesicle Biogenesis


    5 Kegg Pathways  (Kegg details for DNM2):
        Endocytosis
    Fc gamma R-mediated phagocytosis
    Synaptic vesicle cycle
    Endocrine and other factor-regulated calcium reabsorption
    Bacterial invasion of epithelial cells


    DNM2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DNM2: 
              Adherens Junctions in human mouse rat
              Oxidative Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DNM2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DNM2 (P505701, 2, 3 ENSP000003527214) via UniProtKB, MINT, STRING, and/or I2D (see all 955)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PACSIN2Q9UNF01, 2, 3, ENSP000002632464EBI-346547,EBI-742503 MINT-7144701 MINT-7144795 MINT-7144808 MINT-7144776 I2D: score=1 STRING: ENSP00000263246
    SH3BP4Q9P0V31, 2, 3, ENSP000003402374EBI-346547,EBI-1049513 MINT-7160580 MINT-7160249 MINT-7160329 I2D: score=1 STRING: ENSP00000340237
    GRB2P629931, 2, 3, ENSP000003390074EBI-346547,EBI-401755 MINT-65955 MINT-2516705 I2D: score=5 STRING: ENSP00000339007
    DDX39BQ138382, 3MINT-7945693 MINT-7947479 I2D: score=4 
    ENSG00000215425Q138382, 3MINT-7945693 MINT-7947479 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle NAS7590285
    GO:0006184GTP catabolic process TAS--
    GO:0006355regulation of transcription, DNA-templated NAS10893263
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0006897endocytosis NAS10101292

    DNM2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for DNM2
      Browse compounds at ApexBio 

    Compounds for DNM2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    HJC 0350Selective Epac2 inhibitor[885434-70-8]
    Dynamin inhibitory peptide, myristoylated (control) Control peptide version of dynamin inhibitory peptide, myristoylated (Cat. No. 1775) --
    8CPT-2Me-cAMP, sodium salt Selective Epac activator[510774-50-2]
    DynasoreNon-competitive dynamin inhibitor[304448-55-3]
    ML 141Selective inhibitor of Cdc42 Rho family GTPase[71203-35-5]

    4 HMDB Compounds for DNM2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    10 Novoseek inferred chemical compound relationships for DNM2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 37.8 9 19833721 (3), 17420251 (1), 17686996 (1), 18453588 (1) (see all 7)
    gtp 35.8 10 11322780 (3), 9398675 (2), 10852717 (1), 15954862 (1)
    gdp 33.2 1 15954862 (1)
    phosphoinositide 32.3 4 11160859 (1), 17676042 (1)
    phosphatidylinositol 26.8 6 12205083 (2), 16585185 (1), 19032944 (1), 18448666 (1)
    proline 19.1 2 19331814 (1), 10893263 (1)
    lipid 15.6 3 17711877 (1), 19126407 (1), 16856148 (1)
    cholesterol 0 4 17711877 (1), 14600257 (1), 17760830 (1), 15668298 (1)
    nitric oxide 0 4 12488320 (2), 17251380 (1)
    dopamine 0 8 12205083 (7), 14709338 (1)



    DNM2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DNM2 gene (5 alternative transcripts): 
    NM_001005360.2  NM_001005361.2  NM_001005362.2  NM_001190716.1  NM_004945.3  

    Unigene Cluster for DNM2:

    Dynamin 2
    Hs.211463  [show with all ESTs]
    Unigene Representative Sequence: AK127033
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000585892 ENST00000359692 ENST00000389253 ENST00000355667(uc002mpt.2 uc010dxl.2 uc002mpu.2)
    ENST00000408974(uc002mps.2 uc002mpv.2 uc002mpw.3) ENST00000586939
    ENST00000588976 ENST00000591266 ENST00000587991 ENST00000591819 ENST00000591701
    ENST00000591118 ENST00000587485 ENST00000587830 ENST00000586130 ENST00000593220
    ENST00000587329 ENST00000590806
    miRNA
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    Block miRNA regulation of human, mouse, rat DNM2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DNM2 (see all 27):
    hsa-miR-623 hsa-miR-106a hsa-miR-301a hsa-miR-519a hsa-miR-633 hsa-miR-124 hsa-miR-204 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidDNM2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DNM2
    Clone
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    OriGene ORF clones in mouse, rat for DNM2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): DNM2 (NM_001190716)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNM2
    Primer
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    OriGene qPCR primer pairs and template standards for DNM2
    OriGene qSTAR qPCR primer pairs in human, mouse for DNM2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DNM2
      QuantiTect SYBR Green Assays in human, mouse, rat DNM2
      QuantiFast Probe-based Assays in human, mouse, rat DNM2

    Additional mRNA sequence: 

    AK023207.1 AK097875.1 AK124881.1 AK126192.1 AK127033.1 AK289831.1 AK295929.1 AK312260.1 
    BC039596.1 BC054501.1 L36983.1 

    24 DOTS entries:

    DT.99960728  DT.210651  DT.95111989  DT.100824718  DT.121465767  DT.92050766  DT.121465669  DT.92041063 
    DT.100695426  DT.121465736  DT.100654150  DT.100695110  DT.313439  DT.95267982  DT.100824704  DT.121465617 
    DT.121465766  DT.121465774  DT.40131431  DT.92046834  DT.95267974  DT.95267984  DT.435812  DT.91987415 

    5 AceView cDNA sequences:

    AK092344 CB117594 BE388680 BE393555 BF945882 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DNM2 (see all 11)    About this scheme

    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:                                                                                                                                                            

    ExUns: 19a · 19b · 19c ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23 ^ 24
    SP1:  -     -                 -           -                           
    SP2:  -     -                 -           -                           
    SP3:                          -           -                           
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for DNM2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DNM2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCCCTGAT
    DNM2 Expression
    About this image


    DNM2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    DNM2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DNM2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.211463

    UniProtKB/Swiss-Prot: DYN2_HUMAN, P50570
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DNM2: 
              Adherens Junctions in human mouse rat
              Oxidative Stress in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for DNM2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnm21 , 5 dynamin 21, 5 88.01(n)1
    96.78(a)1
      9 (7.79 cM)5
    134301  NM_001253893.11  NP_001240822.11 
     214249085 
    chicken
    (Gallus gallus)
    Aves DNM26
    dynamin 2
    73(a)
    1 ↔ 1
    JH375595.1(5868-11927)
    lizard
    (Anolis carolinensis)
    Reptilia DNM26
    dynamin 2
    93(a)
    1 ↔ 1
    2(80701312-80781099)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dnm21 dynamin 2 79.36(n)
    90.97(a)
      496487  NM_001011076.1  NP_001011076.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dnm2b1 dynamin 2b 77.5(n)
    84.51(a)
      406525  NM_213242.1  NP_998407.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DNM2 gene
    DNM12  MX22  DNM1L2  DNM32  MX12  
    5 SIMAP similar genes for DNM2 using alignment to 7 protein entries:     DYN2_HUMAN (see all proteins):
    DNM3    DNM1    DNM1P34    DNM1L    MX2

    DNM2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DNM2
    PGOHUM00000261174


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DNM2 (see all 2513)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0701634
    Lethal congenital contracture syndrome 5 (LCCS5)4--see VAR_0701632 F V mis40--------
    VAR_0625764
    Myopathy, centronuclear, 1 (CNM1)4--see VAR_0625762 E K mis40--------
    VAR_0683694
    Myopathy, centronuclear, 1 (CNM1)4--see VAR_0683692 E K mis40--------
    VAR_0683674
    Myopathy, centronuclear, 1 (CNM1)4--see VAR_0683672 R H mis40--------
    VAR_0319674
    Charcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB)4--see VAR_0319672 K E mis40--------
    VAR_0683714
    Myopathy, centronuclear, 1 (CNM1)4--see VAR_0683712 L P mis40--------
    VAR_0625754
    Charcot-Marie-Tooth disease 2M (CMT2M)4--see VAR_0625752 L H mis40--------
    VAR_0684254
    Charcot-Marie-Tooth disease 2M (CMT2M)4--see VAR_0684252 G R mis40--------
    VAR_0319634
    Myopathy, centronuclear, 1 (CNM1)4--see VAR_0319632 R Q mis40--------
    VAR_0683734
    Myopathy, centronuclear, 1 (CNM1)4--see VAR_0683732 P R mis40--------

    HapMap Linkage Disequilibrium report for DNM2 (10828729 - 10944164 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for DNM2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718171CNV Deletion23290073
    esv2718170CNV Deletion23290073
    nsv2416CNV Insertion18451855
    nsv833745CNV Loss17160897
    nsv833748CNV Loss17160897
    nsv911047CNV Loss21882294
    nsv833746CNV Loss17160897
    nsv138450CNV Loss16902084
    nsv911049CNV Loss21882294

    Human Gene Mutation Database (HGMD): DNM2
    Locus Specific Mutation Databases (LSDB): DNM2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DNM2
    DNA2.0 Custom Variant and Variant Library Synthesis for DNM2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602378   
    OMIM disorders: 606482  160150  615368  
    UniProtKB/Swiss-Prot: DYN2_HUMAN, P50570
  • 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. 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. 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.
    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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for DNM2 (see all 46):    
    About MalaCards
    centronuclear myopathy    centronuclear myopathy 1    dnm2-related intermediate charcot-marie-tooth neuropathy    lethal congenital contracture syndrome 5
    charcot-marie-tooth disease, dominant intermediate b    charcot-marie-tooth disease, axonal, type 2m    boomerang dysplasia    intermediate charcot-marie-tooth neuropathy
    atelosteogenesis    larsen syndrome    pancreatic ductal carcinoma    charcot-marie-tooth disease type 2
    myopathy congenital    tooth disease    charcot-marie-tooth disease    axonal neuropathy
    myopathy    duchenne muscular dystrophy    neuropathy    peripheral neuropathy

    4 diseases from the University of Copenhagen DISEASES database for DNM2:
    Myopathy     Neuropathy     Larsen syndrome     Boomerang dysplasia

    DNM2 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for DNM2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    centronuclear myopathy 91.2 41 17825552 (3), 19932619 (3), 17676042 (3), 16227997 (3) (see all 14)
    myopathy, congenital 77.7 4 20127478 (1)
    charcot-marie-tooth disease 75.8 29 19502294 (5), 17825552 (2), 18560793 (2), 19528294 (2) (see all 9)
    tumors 0 7 15994918 (2), 11746524 (1)

    Genetic Association Database (GAD): DNM2
    Human Genome Epidemiology (HuGE) Navigator: DNM2 (3 documents)

    Export disorders for DNM2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DNM2 gene, integrated from 10 sources (see all 253):
    (articles sorted by number of sources associating them with DNM2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of an ubiquitously expressed cDNA encoding human dynamin II, a member of the large GTP-binding protein family. (PubMed id 7590285)1, 2, 3, 9 Diatloff-Zito C.... Merlin G. (Gene 1995)
    2. Dynamin 2 mutations associated with human diseases impair clathrin- mediated receptor endocytosis. (PubMed id 19623537)1, 2, 9 Bitoun M.... Guicheney P. (Hum. Mutat. 2009)
    3. Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. (PubMed id 17636067)1, 2, 9 Fabrizi G.M.... Rizzuto N. (Neurology 2007)
    4. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. (PubMed id 15731758)1, 2, 9 Zuechner S....Vance J.M. (Nat. Genet. 2005)
    5. Expanding the clinical, pathological and MRI phenotype of DNM2- related centronuclear myopathy. (PubMed id 20227276)1, 2, 9 Susman R.D.... North K.N. (Neuromuscul. Disord. 2010)
    6. Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non-APOE-epsilon4 carriers. (PubMed id 18236001)1, 4, 9 Aidaralieva N.J....Takeda M. (J. Hum. Genet. 2008)
    7. Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. (PubMed id 17825552)1, 2, 9 Echaniz-Laguna A.... Laporte J. (Neuromuscul. Disord. 2007)
    8. Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. (PubMed id 19932619)1, 2, 9 Melberg A.... Laporte J. (Neuromuscul. Disord. 2010)
    9. Magnetic resonance imaging findings of leg musculature in Charcot- Marie-Tooth disease type 2 due to dynamin 2 mutation. (PubMed id 18560793)1, 2, 9 Gallardo E.... Berciano J. (J. Neurol. 2008)
    10. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. (PubMed id 17932957)1, 2, 9 Bitoun M.... Guicheney P. (Ann. Neurol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1785 HGNC: 2974 AceView: DNM2.1 Ensembl:ENSG00000079805 euGenes: HUgn1785
    ECgene: DNM2 Kegg: 1785 H-InvDB: DNM2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DNM2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DNM2[genesymbol]
    The UMD-DNM2-isoform 1 mutations databasehttp://www.umd.be/DNM2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DNM2 gene:
    Search GeneIP for patents involving DNM2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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