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] See more...

Aliases for DNM3 Gene

Aliases for DNM3 Gene

  • Dynamin 3 2 3 5
  • Dynamin, Testicular 3 4
  • EC 3.6.5.5 4 52
  • Dynamin-3 3 4
  • T-Dynamin 3 4
  • Dyna III 2 3
  • Dynamin Family Member 3
  • KIAA0820 4

External Ids for DNM3 Gene

Previous GeneCards Identifiers for DNM3 Gene

  • GC01P169051
  • GC01P168542
  • GC01P170077
  • GC01P143034

Summaries for DNM3 Gene

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 With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy and Centronuclear Myopathy. Among its related pathways are Endocytic Trafficking of EGFR and Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is DNM2.

UniProtKB/Swiss-Prot Summary for DNM3 Gene

  • 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).

Tocris Summary for DNM3 Gene

  • GTPases are a group of enzymes that catalyze hydrolysis of the gamma phosphate bond in guanine triphosphate (GTP) to form guanine diphosphate (GDP). Mg2+ ions are essential for catalytic activity. GTPases, often coupled to G proteins, are essential in signal transduction.

Gene Wiki entry for DNM3 Gene

Additional gene information for DNM3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNM3 Gene

Genomics for DNM3 Gene

GeneHancer (GH) Regulatory Elements for DNM3 Gene

Promoters and enhancers for DNM3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J171840 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 505.6 +0.4 423 3 TCF12 NRF1 ZBTB10 POLR2A ZBTB11 ZBTB26 SAP30 ZEB1 HDAC2 MXI1 DNM3 lnc-VAMP4-5 DNM3-IT1 lnc-METTL13-5
GH01J171817 Promoter/Enhancer 1.1 EPDnew ENCODE 500.4 -23.6 -23647 1.3 TCF12 JUND FOS ZEB1 FOXA2 FOSL1 ZNF184 CEBPG FOSL2 CEBPB DNM3 EEF1AKNMT ENSG00000224600 lnc-DNM3-1 ENSG00000213060
GH01J172647 Enhancer 0.8 Ensembl ENCODE dbSUPER 14 +805.9 805922 2.4 MYC NFE2 MAFG NR4A1 ZNF24 CTCF CBFA2T3 THRA DNM3 SUCO HSALNG0008484 piR-51878-001
GH01J171779 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 5.4 -59.8 -59808 3.5 ZBTB40 ZNF217 TCF12 SIN3A NRF1 USF1 POLR2G SP1 GTF2E2 PHF8 EEF1AKNMT RF00017-394 PRRC2C MYOC PIGC DNM3 lnc-METTL13-3
GH01J171798 Enhancer 0.8 Ensembl ENCODE 7 -40.3 -40342 4.7 CTCF REST RAD21 TRIM22 SMC3 NFIC POLR2A SKIL FOXA1 IKZF3 RPS15P3 EEF1AKNMT C1orf105 MYOC DNM3 HSALNG0008452
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNM3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNM3

Top Transcription factor binding sites by QIAGEN in the DNM3 gene promoter:
  • aMEF-2
  • AREB6
  • ATF-2
  • c-Myb
  • C/EBPbeta
  • CRE-BP1
  • GATA-1
  • GATA-2
  • GATA-3
  • POU6F1 (c2)

Genomic Locations for DNM3 Gene

Genomic Locations for DNM3 Gene
chr1:171,841,478-172,418,466
(GRCh38/hg38)
Size:
576,989 bases
Orientation:
Plus strand
chr1:171,810,621-172,387,606
(GRCh37/hg19)
Size:
576,986 bases
Orientation:
Plus strand

Genomic View for DNM3 Gene

Genes around DNM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNM3 Gene

Proteins for DNM3 Gene

  • Protein details for DNM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQ16-DYN3_HUMAN
    Recommended name:
    Dynamin-3
    Protein Accession:
    Q9UQ16
    Secondary Accessions:
    • A9Z1Y1
    • O14982
    • O95555
    • Q1MTM8
    • Q5W129
    • Q6P2G1
    • Q9H0P3
    • Q9H548
    • Q9NQ68
    • Q9NQN6

    Protein attributes for DNM3 Gene

    Size:
    869 amino acids
    Molecular mass:
    97746 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA74843.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DNM3 Gene

    Alternative splice isoforms for DNM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNM3 Gene

Selected DME Specific Peptides for DNM3 Gene

Q9UQ16:
  • INRIFHER
  • LNQQLTNHIR
  • LRREISYAIKNIHG
  • GVVNRSQ
  • DQNTLMEES
  • LILAVTPAN
  • RPTIIRP
  • ELACDSQEDVDSWKAS
  • VDFEKRIEGSGDQ
  • FHERFPFE
  • AERKFFLSHPAYRH
  • TKVPVGDQP
  • LPQIAVVG
  • EYAEFLH
  • PKTIMHLMINN
  • DLANSDALK
  • RKTKALLQMV
  • ADRMGTPHLQK
  • DLPGITKVP
  • FALFNTEQRNVYKDYR
  • AKEVDPQG
  • SPHVLNLTL
  • ETDRVTG
  • SLSWYKD
  • AEFLHCK
  • EEKEKKYMLPLD
  • DFLPRGSGIVTRRPL
  • GIMKGGS
  • TKLDLMD
  • PPQVPSRP
  • SYINTNHEDFIGFANAQQRS
  • RTGLFTPD
  • LIPLVNRLQDAFSA
  • EQAQRRDEMLRMY
  • LMEESAEQAQRRD
  • LRRGYVGVVNR
  • VIRKGWL

Post-translational modifications for DNM3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DNM3 Gene

Gene Families for DNM3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DNM3 Gene

Blocks:
  • Pleckstrin-like
  • Dynamin
  • Ribosomal protein S10
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNM3 Gene

GenScript: Design optimal peptide antigens:
  • T-dynamin (DYN3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UQ16

UniProtKB/Swiss-Prot:

DYN3_HUMAN :
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
genes like me logo Genes that share domains with DNM3: view

Function for DNM3 Gene

Molecular function for DNM3 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.5;.

Enzyme Numbers (IUBMB) for DNM3 Gene

Phenotypes From GWAS Catalog for DNM3 Gene

Gene Ontology (GO) - Molecular Function for DNM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA,ISS --
GO:0005515 protein binding IPI 15252009
GO:0005525 GTP binding IEA --
GO:0008017 microtubule binding IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with DNM3: view
genes like me logo Genes that share phenotypes with DNM3: view

Animal Models for DNM3 Gene

MGI Knock Outs for DNM3:
  • Dnm3 Dnm3<tm1.2Pdc>

Animal Model Products

CRISPR Products

miRNA for DNM3 Gene

miRTarBase miRNAs that target DNM3

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DNM3 Gene

Localization for DNM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNM3 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Microtubule-associated. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNM3 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
extracellular 3
cytosol 3
golgi apparatus 3
nucleus 2
endosome 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0005794 Golgi apparatus IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with DNM3: view

Pathways & Interactions for DNM3 Gene

genes like me logo Genes that share pathways with DNM3: view

Gene Ontology (GO) - Biological Process for DNM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission IBA 21873635
GO:0006897 endocytosis ISS --
GO:0007416 synapse assembly ISS --
GO:0016185 synaptic vesicle budding from presynaptic endocytic zone membrane IBA 21873635
GO:0031623 receptor internalization IBA 21873635
genes like me logo Genes that share ontologies with DNM3: view

No data available for SIGNOR curated interactions for DNM3 Gene

Drugs & Compounds for DNM3 Gene

(41) Drugs for DNM3 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Salirasib Investigational Pharma Inhibitor of active Ras protein, Ras inhibitor; also induces autophagy 0

(28) Additional Compounds for DNM3 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ESI 09
263707-16-0

(4) Tocris Compounds for DNM3 Gene

Compound Action Cas Number
8-CPT-2Me-cAMP, sodium salt Selective Epac activator 634207-53-7
8-pCPT-2-O-Me-cAMP-AM Selective Epac activator; cell-permeable analog of 8CPT-2Me-cAMP (Cat. No. 1645) 1152197-23-3
ESI 09 EPAC inhibitor 263707-16-0
Salirasib Ras inhibitor; also induces autophagy 162520-00-5

(1) ApexBio Compounds for DNM3 Gene

Compound Action Cas Number
Dynasore Dynamin and GTPase inhibitor 304448-55-3
genes like me logo Genes that share compounds with DNM3: view

Drug Products

Transcripts for DNM3 Gene

mRNA/cDNA for DNM3 Gene

6 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNM3 Gene

No ASD Table

Relevant External Links for DNM3 Gene

GeneLoc Exon Structure for
DNM3

Expression for DNM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNM3 Gene

mRNA differential expression in normal tissues according to GTEx for DNM3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.4), Brain - Cerebellum (x4.5), and Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for DNM3 Gene

This gene is overexpressed in Brain (41.3), Frontal cortex (10.4), and Fetal Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNM3 Gene



Protein tissue co-expression partners for DNM3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNM3

SOURCE GeneReport for Unigene cluster for DNM3 Gene:

Hs.654775

Evidence on tissue expression from TISSUES for DNM3 Gene

  • Nervous system(4.9)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with DNM3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNM3 Gene

Orthologs for DNM3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNM3 31 30
  • 97.42 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNM3 31
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNM3 31 30
  • 91.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DNM3 31 30
  • 91.27 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dnm3 17 31 30
  • 89.33 (n)
rat
(Rattus norvegicus)
Mammalia Dnm3 30
  • 88.94 (n)
oppossum
(Monodelphis domestica)
Mammalia DNM3 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNM3 31 30
  • 81.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 78 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dnm3 30
  • 73.98 (n)
zebrafish
(Danio rerio)
Actinopterygii dnm3 31
  • 77 (a)
OneToOne
dnm2a 30
  • 72.94 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10361 30
soybean
(Glycine max)
eudicotyledons Gma.4720 30
barley
(Hordeum vulgare)
Liliopsida Hv.2342 30
wheat
(Triticum aestivum)
Liliopsida Ta.307 30
corn
(Zea mays)
Liliopsida Zm.5017 30
rice
(Oryza sativa)
Liliopsida Os.27352 30
Species where no ortholog for DNM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • worm (Caenorhabditis elegans)

Evolution for DNM3 Gene

ENSEMBL:
Gene Tree for DNM3 (if available)
TreeFam:
Gene Tree for DNM3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNM3: view image

Paralogs for DNM3 Gene

Paralogs for DNM3 Gene

(6) SIMAP similar genes for DNM3 Gene using alignment to 5 proteins:

  • DYN3_HUMAN
  • E5RHK8_HUMAN
  • E5RIK2_HUMAN
  • H0YBC6_HUMAN
  • Q6P2G1_HUMAN
genes like me logo Genes that share paralogs with DNM3: view

Variants for DNM3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNM3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs781193654 Uncertain Significance: not provided 172,038,338(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for DNM3 Gene

Structural Variations from Database of Genomic Variants (DGV) for DNM3 Gene

Variant ID Type Subtype PubMed ID
esv2615149 CNV deletion 19546169
esv2664393 CNV deletion 23128226
esv2670196 CNV deletion 23128226
esv275460 CNV loss 21479260
esv3332602 CNV insertion 20981092
esv3587919 CNV loss 21293372
esv3587920 CNV loss 21293372
esv3587922 CNV loss 21293372
esv3587923 CNV loss 21293372
nsv1000079 CNV loss 25217958
nsv1006542 CNV loss 25217958
nsv3521 CNV insertion 18451855
nsv3532 CNV deletion 18451855
nsv3543 CNV deletion 18451855
nsv465650 CNV loss 19166990
nsv477367 CNV novel sequence insertion 20440878
nsv508047 OTHER sequence alteration 20534489
nsv548192 CNV loss 21841781
nsv831893 CNV loss 17160897

Variation tolerance for DNM3 Gene

Residual Variation Intolerance Score: 11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.19; 39.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNM3 Gene

Human Gene Mutation Database (HGMD)
DNM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNM3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNM3 Gene

Disorders for DNM3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DNM3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
  • dominant optic atrophy plus syndrome; doa+
centronuclear myopathy
  • myotubular myopathy
neuropathy, hereditary sensory, type id
  • hsn1d
sezary's disease
  • sezary disease
- elite association - COSMIC cancer census association via MalaCards
Search DNM3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DNM3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DNM3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNM3 Gene

Publications for DNM3 Gene

  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. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  2. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 41 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 41 54
  5. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (PMID: 20935629) Heid IM … Lindgren CM (Nature genetics 2010) 3 41 54

Products for DNM3 Gene

Sources for DNM3 Gene