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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DNM3 Gene

protein-coding   GIFtS: 65
GCID: GC01P171810

Dynamin 3

Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Dynamin 31 2     EC 3.6.5.53 8
Dyna III1 2     Dynamin Family Member2
Dynamin, Testicular2 3     dynamin-32
T-dynamin2 3     KIAA08203

External Ids:    HGNC: 291251   Entrez Gene: 260522   Ensembl: ENSG000001979597   OMIM: 6114455   UniProtKB: Q9UQ163   

Export aliases for DNM3 gene to outside databases

Previous GC identifers: GC01P169051 GC01P168542 GC01P170077 GC01P143034


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DNM3 Gene:
This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with
microtubules and are involved in vesicular transport. The encoded protein functions in the development of
megakaryocytes. Alternative splicing results in multiple transcript variants. (provided by RefSeq, May 2013)

GeneCards Summary for DNM3 Gene: 
DNM3 (dynamin 3) is a protein-coding gene. Diseases associated with DNM3 include optic atrophy, and seckel syndrome, and among its related super-pathways are Synaptic Vesicle Pathway and Axon guidance. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is DNM1.

UniProtKB/Swiss-Prot: DYN3_HUMAN, Q9UQ16
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 (By
similarity)

summary for DNM3 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 DNM3 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNM3 gene promoter:
         C/EBPbeta   GATA-3   ATF-2   POU6F1 (c2)   GATA-2   GATA-1   AREB6   CRE-BP1   c-Myb   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNM3 promoter sequence
   Search SABiosciences Chromatin IP Primers for DNM3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNM3


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

Entrez Gene cytogenetic band: 1q24.3   Ensembl cytogenetic band:  1q24.3   HGNC cytogenetic band: 1q24.1

DNM3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNM3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P171810:  view genomic region     (about GC identifiers)

Start:
171,810,621 bp from pter      End:
172,387,606 bp from pter
Size:
576,986 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DYN3_HUMAN, Q9UQ16 (See protein sequence)
Recommended Name: Dynamin-3  
Size: 869 amino acids; 97746 Da
Subcellular location: Cytoplasm (Potential). Cytoplasm, cytoskeleton (Potential). Note=Microtubule-associated
(Potential)
Sequence caution: Sequence=BAA74843.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for DNM3:
3L43 (3D)    
Secondary accessions: A9Z1Y1 O14982 O95555 Q1MTM8 Q5W129 Q9H0P3 Q9H548 Q9NQ68 Q9NQN6
Alternative splicing: 4 isoforms:  Q9UQ16-1   Q9UQ16-2   Q9UQ16-3   Q9UQ16-4   

Explore the universe of human proteins at neXtProt for DNM3: NX_Q9UQ16

Explore proteomics data for DNM3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UQ16

  • 4/37 DME Specific Peptides for DNM3 (Q9UQ16) (see all 37)
     SLSWYKD  AEFLHCK  GVVNRSQ  RPTIIRP 

    DNM3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DNM3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001129599.1  NP_001265181.1  NP_056384.2  

    ENSEMBL proteins: 
     ENSP00000356707   ENSP00000347457   ENSP00000356705   ENSP00000429701   ENSP00000429416  
     ENSP00000429165   ENSP00000350876  
    Reactome Protein details: Q9UQ16
    Human Recombinant Protein Products for DNM3: 
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    Cloud-Clone Corp. Proteins for DNM3 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005874microtubule IEA--
    GO:0014069postsynaptic density ISS--
    GO:0043197dendritic spine ISS--
    GO:0048471perinuclear region of cytoplasm ISS--

    DNM3 for ontologies           About GeneDecksing



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

    5/9 InterPro protein domains (see all 9):
     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 Q9UQ16

    ProtoNet protein and cluster: Q9UQ16

    3 Blocks protein domains:
    IPB001401 Dynamin
    IPB001848 Ribosomal protein S10
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: DYN3_HUMAN, Q9UQ16
    Similarity: Belongs to the dynamin family
    Similarity: Contains 1 GED domain
    Similarity: Contains 1 PH domain


    DNM3 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DYN3_HUMAN, Q9UQ16
    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 (By
    similarity)
    Catalytic activity: GTP + H(2)O = GDP + phosphate

         Enzyme Number (IUBMB): EC 3.6.5.51 2

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity ISS--
    GO:0005515protein binding IPI15252009
    GO:0005525GTP binding IEA--
    GO:0005543phospholipid binding IEA--
         
    DNM3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DNM3:
     Synthetic lethal with Ras 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dnm3):
     behavior/neurological  homeostasis/metabolism  mortality/aging  nervous system  no phenotypic analysis 
     normal 

    DNM3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dnm3tm1.2Pdc for DNM3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DNM3 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DNM3 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synaptic vesicle cycle
    Synaptic vesicle cycle0.50
    Synaptic Vesicle Pathway0.50
    2Axon guidance
    Axon guidance0.69
    L1CAM interactions0.39
    Developmental Biology0.69
    Recycling pathway of L10.38
    3Signaling by FGFR
    NGF signalling via TRKA from the plasma membrane0.71
    Signalling by NGF0.71
    4Immune System
    Immune System0.56
    Adaptive Immune System0.56
    5Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for DNM3
        Notch Signaling Pathways


    1 BioSystems Pathway for DNM3
        Synaptic Vesicle Pathway

    5/11        Reactome Pathways for DNM3 (see all 11)
        L1CAM interactions
    Developmental Biology
    Adaptive Immune System
    Retrograde neurotrophin signalling
    NGF signalling via TRKA from the plasma membrane


    4         Kegg Pathways  (Kegg details for DNM3):
        Endocytosis
    Synaptic vesicle cycle
    Endocrine and other factor-regulated calcium reabsorption
    Bacterial invasion of epithelial cells


    DNM3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNM3

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

    5/29 Interacting proteins for DNM3 (Q9UQ162, 3 ENSP000003567054) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3GL1Q999612, 3MINT-8096522 I2D: score=1 
    AMPHP494182, 3, ENSP000003486024MINT-8096497 I2D: score=1 STRING: ENSP00000348602
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    HOMER1Q86YM73, ENSP000003343824I2D: score=1 STRING: ENSP00000334382
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ISS--
    GO:0006897endocytosis ISS--
    GO:0007416synapse assembly ISS--
    GO:0046847filopodium assembly ISS--

    DNM3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DNM3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for DNM3 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]

    1 HMDB Compound for DNM3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    10/60 Novoseek inferred chemical compound relationships for DNM3 gene (see all 60)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 75.4 119 9531551 (4), 16946707 (4), 15450295 (3), 8798389 (3) (see all 61)
    phragmoplastin 67.8 1 10722722 (1)
    tyrosine 48.8 24 9607818 (3), 9880482 (3), 10753943 (2), 11719519 (2) (see all 16)
    etorphine 48.5 1 16415176 (1)
    monodansylcadaverine 41 2 18353779 (1), 11805206 (1)
    lipid 39.9 51 15123615 (2), 17988218 (2), 12837133 (2), 11015230 (2) (see all 34)
    cytochalasin d 39.1 1 9841906 (1)
    gdp 38.9 9 9346955 (3), 16413294 (1), 19573020 (1), 15954862 (1) (see all 6)
    phosphatidylinositol 38.1 6 12724326 (1), 19737091 (1), 16313344 (1), 11830589 (1) (see all 6)
    chlorpromazine 37.6 4 18602423 (1), 17587406 (1), 19864322 (1), 15020715 (1)

    Search CenterWatch for drugs/clinical trials and news about DNM3 / DYN3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DNM3 gene (3 alternative transcripts): 
    NM_001136127.2  NM_001278252.1  NM_015569.4  

    Unigene Cluster for DNM3:

    Dynamin 3
    Hs.654775  [show with all ESTs]
    Unigene Representative Sequence: NM_015569
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367733(uc001gid.4) ENST00000355305 ENST00000367731 ENST00000520906(uc009wwb.2)
    ENST00000523513 ENST00000485254(uc001gih.1) ENST00000491124 ENST00000358155(uc001gie.3 uc001gif.3)


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    Additional mRNA sequence: 

    AB020627.2 AK056279.1 AK307806.1 AK308992.1 AL035110.1 AL136712.1 BC037326.1 BC047089.1 
    BC064546.1 

    12 DOTS entries:

    DT.309695  DT.95337768  DT.121390315  DT.100754800  DT.100754801  DT.121390225  DT.75133793  DT.95167324 
    DT.99927250  DT.427045  DT.75138540  DT.95284416 

    24/84 AceView cDNA sequences (see all 84):

    BM671950 BC064546 BM974867 AW044058 AA348527 CB117728 N64354 AB020627 
    BQ723087 BU738923 NM_015569 BM720191 AK056279 BX282640 BQ439423 AL035110 
    CR622585 AL119017 AI360075 R85761 BF589142 D55915 AA028045 AA682916 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DNM3 expression in normal human tissues (normalized intensities)      DNM3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCTATTGT
    DNM3 Expression
    About this image


    DNM3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Thalamus
             Subthalamic Nucleus   
     
     Bone (Muscoskeletal System)
             TGFbeta3+BMP7-induced chondrocytes
     
     Cartilage (Muscoskeletal System)
             TGFbeta3+BMP7-induced chondrocytes
     
     Spinal Cord (Nervous System)

    See DNM3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNM3

    SOURCE GeneReport for Unigene cluster: Hs.654775
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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DNM3 gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnm31 , 5 dynamin 31, 5 89.38(n)1
    97.8(a)1
      1 (69.95 cM)5
    1039671  NM_001038619.11  NP_001033708.11 
     1619824535 
    chicken
    (Gallus gallus)
    Aves DNM31 dynamin 3 82.03(n)
    92.07(a)
      424389  XM_003641653.1  XP_003641701.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dnm31 dynamin 3 71.12(n)
    77.79(a)
      557996  NM_001128524.1  NP_001121996.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta shi6
    shibire
    63(a)
    1 → many
    X(15786149-15800725)
    worm
    (Caenorhabditis elegans)
    Secernentea dyn-16
    Dynamin
    64(a)
    1 → many
    X(15568916-15573693)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS16
    Dynamin-like GTPase required for vacuolar sorting;...
    40(a)
    1 → many
    XI(440608-442722)
    soybean
    (Glycine max)
    eudicotyledons Gma.47202 Glycine max dynamin-like protein SDL5A mRNA, complete more 72.12(n)    U36430.1 
    rice
    (Oryza sativa)
    Liliopsida Os.273522 Oryza sativa (japonica cultivar-group) cDNA clone0 more 70.56(n)    AK105435.1 


    ENSEMBL Gene Tree for DNM3 (if available)
    TreeFam Gene Tree for DNM3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DNM3 gene
    DNM12  MX22  DNM22  MX12  
    6 SIMAP similar genes for DNM3 using alignment to 5 protein entries:     DYN3_HUMAN (see all proteins):
    DNM1    DNM2    DNM1P34    DNM1L    MX2    MX1

    DNM3 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/9658 SNPs in DNM3 are shown (see all 9658)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs355221741,2
    C--143076311(+) acacC-/CTGTCAG 2 -- int10--------
    rs10150091,2
    C,F,A,H--171808654(-) CAACTG/ATAATC 2 -- us2k120Minor allele frequency- A:0.36NA EA MN WA CSA 1301
    rs1851949241,2
    --171808659(+) CAGTTA/GGACAT 2 -- us2k10--------
    rs1901193201,2
    --171808675(+) ATGAAA/CAAGAT 2 -- us2k10--------
    rs1422844661,2
    --171808700(+) CTATCC/TGGATC 2 -- us2k10--------
    rs1821738581,2
    --171808731(+) CTCCTC/TTCCTT 2 -- us2k10--------
    rs10150081,2
    C,F,O,A,H--171808746(-) AAAGTA/GAAAAG 2 -- us2k123Minor allele frequency- G:0.24NA EA MN WA CSA 1115
    rs1856186391,2
    C--171808778(+) ACTTCC/TCTTCT 2 -- us2k10--------
    rs1882572341,2
    --171808823(+) TTATTC/TCTCAC 2 -- us2k10--------
    rs1808234981,2
    --171808912(+) CTCAAA/GTCAGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for DNM3 (171810621 - 172060621 bp, first 250kb of DNM3)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for DNM3 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2664393CNV Deletion23128226
    esv2670196CNV Deletion23128226
    esv2615149CNV Deletion19546169
    nsv3521CNV Insertion18451855
    esv275460CNV Loss21479260
    nsv465650CNV Loss19166990
    nsv3532CNV Loss18451855
    nsv3543CNV Loss18451855
    nsv508047CNV Loss20534489
    nsv872546CNV Loss21882294


    Human Gene Mutation Database (HGMD): DNM3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DNM3
    DNA2.0 Custom Variant and Variant Library Synthesis for DNM3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611445    OMIM disorders: --

    20/24 diseases for DNM3 (see all 24):    About MalaCards
    optic atrophy    seckel syndrome    vesiculitis    centronuclear myopathy
    wiskott-aldrich syndrome    diphtheria    cholera    huntington's disease
    paraplegia    keloids    paralysis    choriocarcinoma
    cutaneous t cell lymphoma    myopathy    influenza    gout
    herpes simplex    alzheimer's disease    osteosarcoma    myeloid leukemia


    DNM3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/21 Novoseek inferred disease relationships for DNM3 gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    optic atrophy autosomal dominant 51 1 17167772 (1)
    wiskott-aldrich syndrome 48.2 3 16540475 (1), 12686614 (1), 16418535 (1)
    cholera 36.4 5 9531551 (1), 15496455 (1), 15146065 (1), 19438805 (1) (see all 5)
    influenza 10.4 2 10648179 (2)
    diphtheria 5.65 6 9521846 (3), 15511085 (1), 10547351 (1)
    metastasis 5.06 1 16505488 (1)
    cancer 4.68 2 19857461 (2)
    melanoma 2.61 1 16306044 (1)
    leukemia 1.93 2 10816441 (1)
    tumors 0.721 3 11672786 (1), 12695554 (1), 12848341 (1)

    Genetic Association Database (GAD): DNM3
    Human Genome Epidemiology (HuGE) Navigator: DNM3 (4 documents)

    Export disorders for DNM3 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)
    About This Section

    PubMed articles for DNM3 gene, integrated from 9 sources (see all 466):
    (articles sorted by number of sources associating them with DNM3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2, 3 Nagase T....Ohara O. (1998)
    2. New gene functions in megakaryopoiesis and platelet fo rmation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (2011)
    3. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distr ibution. (PubMed id 20935629)1, 4 Heid I.M....Lindgren C.M. (2010)
    6. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PubMed id 19266077)1, 4 Sovio U....Jarvelin M.R. (2009)
    7. A genome-wide meta-analysis identifies 22 loci associ ated with eight hematological parameters in the HaemGen consortium. (PubMed id 19820697)1, 4 Soranzo N....Gieger C. (2009)
    8. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    10. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 26052 HGNC: 29125 AceView: DNM3 Ensembl:ENSG00000197959 euGenes: HUgn26052
    ECgene: DNM3 Kegg: 26052 H-InvDB: DNM3

    (According to HUGE)
    About This Section
    HUGE: KIAA0820

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DNM3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DNM3 gene:
    Search GeneIP for patents involving DNM3

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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