DNM2 Gene (Protein Coding)

Dynamin 2

GC19P010718
GIFtS:
51
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 cert... See more...

Aliases for DNM2 Gene

Aliases for DNM2 Gene

  • Dynamin 2 2 3 5
  • Dynamin II 2 3
  • EC 3.6.5.5 4 52
  • Dynamin-2 3 4
  • DYN2 3 4
  • Cytoskeletal Protein 2
  • DI-CMTB 3
  • CMTDI1 3
  • CMTDIB 3
  • CMT2M 3
  • DYNII 3
  • LCCS5 3

External Ids for DNM2 Gene

Previous GeneCards Identifiers for DNM2 Gene

  • GC19P010959
  • GC19P011051
  • GC19P010673
  • GC19P010689
  • GC19P010824
  • GC19P010405

Summaries for DNM2 Gene

Entrez Gene Summary for DNM2 Gene

  • Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]

GeneCards Summary for DNM2 Gene

DNM2 (Dynamin 2) is a Protein Coding gene. Diseases associated with DNM2 include Myopathy, Centronuclear, 1 and Charcot-Marie-Tooth Disease, Dominant Intermediate B. Among its related pathways are Clathrin derived vesicle budding and Endocytic Trafficking of EGFR. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is DNM3.

UniProtKB/Swiss-Prot Summary for DNM2 Gene

  • Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Plays an important role in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis (PubMed:12498685). Regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity).

Tocris Summary for DNM2 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 DNM2 Gene

Additional gene information for DNM2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNM2 Gene

Genomics for DNM2 Gene

GeneHancer (GH) Regulatory Elements for DNM2 Gene

Promoters and enhancers for DNM2 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
GH19J010717 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 502.9 +0.8 821 4.3 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 POLR2G DNM2 MIR638 EIF3G ZNF627 ILF3 KRI1 FBXL12 RAVER1 UBE2L4 QTRT1
GH19J010758 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 12 +45.1 45108 8.9 EP300 ZBTB40 SIN3A POLR2G SP1 NCOR1 ZIC2 KDM6A TCF7 KLF4 KRI1 FBXL12 ILF3 RAVER1 ZNF823 PPAN MIR199A1 SLC44A2 MIR638 DNM2
GH19J010601 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.9 -114.0 -113996 4.5 ZNF217 EP300 NRF1 USF1 PHF8 ZIC2 ZBTB10 ZBTB26 TARDBP KLF7 SLC44A2 CDKN2D KRI1 ICAM3 ILF3 ZNF627 PRKCSH TYK2 DNM2 S1PR5
GH19J010192 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 4.8 -523.7 -523744 3.4 FOXK2 ZBTB40 ZNF217 EP300 SIN3A TCF12 NRF1 MYC POLR2G SP1 DNMT1 PPAN ILF3 KRI1 ZNF266 FBXL12 RAVER1 ENSG00000270614 ZNF699 ZNF559
GH19J010759 Promoter/Enhancer 0.9 Ensembl dbSUPER 12 +40.3 40348 0.4 PCBP1 WT1 TRIM24 IKZF3 ZNF398 MAZ ZNF366 HNRNPK IKZF1 ZNF512 MIR199A1 MIR638 DNM2 lnc-QTRT1-3 piR-53141 lnc-TIMM29-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNM2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNM2

Top Transcription factor binding sites by QIAGEN in the DNM2 gene promoter:
  • STAT3

Genomic Locations for DNM2 Gene

Genomic Locations for DNM2 Gene
chr19:10,718,053-10,833,488
(GRCh38/hg38)
Size:
115,436 bases
Orientation:
Plus strand
chr19:10,828,729-10,944,164
(GRCh37/hg19)
Size:
115,436 bases
Orientation:
Plus strand

Genomic View for DNM2 Gene

Genes around DNM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNM2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DNM2 Gene

Proteins for DNM2 Gene

Products:

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

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

    Protein attributes for DNM2 Gene

    Size:
    870 amino acids
    Molecular mass:
    98064 Da
    Quaternary structure:
    • Interacts with MYOF (By similarity). Interacts with CTTN and ACTN1 (By similarity). Interacts with SHANK1, SHANK2, SH3BP4 and NOSTRIN. Interacts with SNX9. Interacts with SNX33 (via SH3 domain). Interacts with MYO1E (via SH3 domain). Interacts with PSTPIP1. Interacts with CTNND2 (PubMed:22022388). May interact with PIK3C3 (By similarity). May be a component of a complex composed of RAB5A (in GDP-bound form), DYN2 and PIK3C3 (By similarity). Interacts with BIN1 (PubMed:17676042).
    Miscellaneous:
    • Overexpression of CNM- and CMT-related DNM2 mutants in COS7 cells, whatever the mutated domain, led to a reduction in clathrin-mediated receptor endocytosis associated with MAPK ERK-1 and ERK-2 impairment. The membrane trafficking impairment process may represent a common pathophysiological pathway in the autosomal forms of CNM DNM2-CMT neuropathy.

    Three dimensional structures from OCA and Proteopedia for DNM2 Gene

    Alternative splice isoforms for DNM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNM2 Gene

Protein Expression for DNM2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DNM2 Gene

P50570:
  • INRIFHER
  • LNQQLTNHIR
  • LRREISYAIKNIHG
  • GVVNRSQ
  • IREREGRTK
  • LILAVTPAN
  • RPTIIRP
  • ALAAERKFFLSHP
  • VTRRPLILQL
  • ELACDSQEDVDSWKAS
  • VDFEKRIEGSGDQ
  • FHERFPFE
  • AERKFFLSHPAYRH
  • MLRMYHA
  • TKVPVGDQP
  • LPQIAVVG
  • PKTIMHLMINN
  • DLANSDALK
  • RKTKALLQMV
  • APPQIPSRP
  • ADRMGTPHLQK
  • DLPGITKVP
  • AKEVDPQG
  • SPHVLNLTL
  • ETDRVTG
  • KLQSQLLS
  • SLSWYKD
  • AEFLHCK
  • EEKEKKYMLPLD
  • DFLPRGSGIVTRRPL
  • EYKNFRPDDP
  • TKLDLMD
  • SYINTNHEDFIGFANAQQRS
  • ELSGGARINR
  • RTGLFTPD
  • YPRLREE
  • RDVEKGFMS
  • YRHMADR
  • EPCLKCVD

Post-translational modifications for DNM2 Gene

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

Other Protein References for DNM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DNM2 Gene

Gene Families for DNM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for DNM2 Gene

Blocks:
  • Pleckstrin-like
  • Dynamin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNM2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ78533, highly similar to Homo sapiens dynamin 2 (DNM2), transcript variant 4, mRNA (A8K1B6_HUMAN)
  • Dynamin-2 (DYN2_HUMAN)
  • Dynamin II (AA 474-866] [Homo sapiens]) (Q9UPH5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P50570

UniProtKB/Swiss-Prot:

DYN2_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 DNM2: view

Function for DNM2 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DNM2 Gene

UniProtKB/Swiss-Prot Function:
Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Plays an important role in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis (PubMed:12498685). Regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (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;.
GENATLAS Biochemistry:
dynamin 2,large GTPase,ubiquitously expressed,predominantly in skeletal muscle and heart,potentially involved in the G2/mitosis transition

Enzyme Numbers (IUBMB) for DNM2 Gene

Phenotypes From GWAS Catalog for DNM2 Gene

Gene Ontology (GO) - Molecular Function for DNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,TAS --
GO:0005515 protein binding IPI 11583995
GO:0005525 GTP binding NAS,IEA 7590285
GO:0008017 microtubule binding IBA,NAS 7590285
genes like me logo Genes that share ontologies with DNM2: view
genes like me logo Genes that share phenotypes with DNM2: view

Human Phenotype Ontology for DNM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNM2 Gene

MGI Knock Outs for DNM2:
  • Dnm2 Dnm2<tm1.2Pdc>
  • Dnm2 Dnm2<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for DNM2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNM2

Clone Products

  • Addgene plasmids for DNM2

No data available for Transcription Factor Targets and HOMER Transcription for DNM2 Gene

Localization for DNM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNM2 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell junction. Membrane, clathrin-coated pit. Cell junction, synapse, postsynaptic density. Cell junction, synapse. Midbody. Cell projection, phagocytic cup. Cytoplasmic vesicle, phagosome membrane; Peripheral membrane protein. Note=Colocalizes with CTTN at the basis of filopodia in hippocampus neuron growth zones (By similarity). Microtubule-associated. Also found in the postsynaptic density of neuronal cells. Co-localizes with PIK3C3 and RAB5A to the nascent phagosome (By similarity). {ECO:0000250 UniProtKB:P39052, ECO:0000250 UniProtKB:P39054}.

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 DNM2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
golgi apparatus 5
endosome 4
nucleus 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for DNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0001891 phagocytic cup IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with DNM2: view

Pathways & Interactions for DNM2 Gene

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

Pathways by source for DNM2 Gene

1 Sino Biological pathway for DNM2 Gene
4 GeneGo (Thomson Reuters) pathways for DNM2 Gene
  • Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
  • G-protein signaling G-Protein beta/gamma signaling cascades
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
1 R&D Systems pathway for DNM2 Gene
5 Qiagen pathways for DNM2 Gene
  • Endocytic Trafficking of EGFR
  • eNOS Signaling
  • G-Beta Gamma Signaling
  • GnRH Signaling
  • Remodeling of Adherens Junctions
1 Cell Signaling Technology pathway for DNM2 Gene

SIGNOR curated interactions for DNM2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for DNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle NAS 7590285
GO:0000266 mitochondrial fission IBA 21873635
GO:0002031 G protein-coupled receptor internalization IEA --
GO:0003281 ventricular septum development IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 10893263
genes like me logo Genes that share ontologies with DNM2: view

Drugs & Compounds for DNM2 Gene

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  1. Drug

(13) Drugs for DNM2 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

(7) Additional Compounds for DNM2 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
 14066-19-4, 14265-44-2
ESI 09
263707-16-0

(4) Tocris Compounds for DNM2 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 DNM2 Gene

Compound Action Cas Number
Dynasore Dynamin and GTPase inhibitor 304448-55-3
genes like me logo Genes that share compounds with DNM2: view

Drug Products

Transcripts for DNM2 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DNM2 Gene

5 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNM2

Clone Products

  • Addgene plasmids for DNM2

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

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

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

Relevant External Links for DNM2 Gene

GeneLoc Exon Structure for
DNM2

Expression for DNM2 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNM2 Gene

mRNA expression in normal human tissues for DNM2 Gene
mRNA expression by BioGPS for DNM2 GenemRNA expression by GTEx for DNM2 Gene

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

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for DNM2 Gene

This gene is overexpressed in Lymph node (10.1) and Brain (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNM2 Gene



Protein tissue co-expression partners for DNM2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNM2

SOURCE GeneReport for Unigene cluster for DNM2 Gene:

Hs.211463

mRNA Expression by UniProt/SwissProt for DNM2 Gene:

P50570-DYN2_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for DNM2 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Intestine(3.4)
  • Muscle(2.9)
  • Kidney(2.5)
  • Blood(2.4)
  • Heart(2.3)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • mouth
  • tongue
Thorax:
  • chest wall
  • lung
  • rib
  • rib cage
Pelvis:
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with DNM2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for DNM2 Gene

Orthologs for DNM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia DNM2 31 30
  • 97.42 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia DNM2 31
  • 95 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia DNM2 31 30
  • 90.84 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia DNM2 31 30
  • 90.71 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia DNM2 31
  • 90 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Dnm2 30
  • 88.81 (n)
mouse
(Mus musculus)
 Mammalia Dnm2 17 31 30
  • 88.01 (n)
chicken
(Gallus gallus)
 Aves DNM2 31
  • 73 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia DNM2 31
  • 93 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dnm2 30
  • 79.36 (n)
zebrafish
(Danio rerio)
 Actinopterygii dnm2a 31
  • 88 (a)
 OneToMany
dnm2b 30
  • 77.5 (n)
DNM2 (1 of 2) 31
  • 70 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta shi 32
  • 68 (a)
worm
(Caenorhabditis elegans)
 Secernentea dyn-1 32
  • 67 (a)
Species where no ortholog for DNM2 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)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNM2 Gene

ENSEMBL:
Gene Tree for DNM2 (if available)
TreeFam:
Gene Tree for DNM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNM2: view image

Paralogs for DNM2 Gene

Paralogs for DNM2 Gene

(5) SIMAP similar genes for DNM2 Gene using alignment to 7 proteins:

  • DYN2_HUMAN
  • F5H4R9_HUMAN
  • K7EMQ3_HUMAN
  • K7EMR9_HUMAN
  • K7ENE7_HUMAN
  • K7EPK9_HUMAN
  • Q9UPH5_HUMAN
genes like me logo Genes that share paralogs with DNM2: view

Variants for DNM2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNM2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
637071 Uncertain Significance: Charcot-Marie-Tooth disease 10,819,982(+) GAAA/G INFRAME_DELETION
637072 Uncertain Significance: Charcot-Marie-Tooth disease 10,820,047(+) T/C MISSENSE_VARIANT
637073 Uncertain Significance: Charcot-Marie-Tooth disease 10,819,986(+) GAGA/G INFRAME_DELETION
640060 Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate B 10,830,270(+) G/A MISSENSE_VARIANT
641192 Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate B 10,796,186(+) A/G MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for DNM2 Gene

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

Variant ID Type Subtype PubMed ID
dgv1712n106 CNV deletion 24896259
esv2718170 CNV deletion 23290073
esv2718171 CNV deletion 23290073
esv3556025 CNV deletion 23714750
esv3643658 CNV loss 21293372
nsv1061882 CNV gain 25217958
nsv1071909 CNV deletion 25765185
nsv1072323 CNV deletion 25765185
nsv1134753 CNV deletion 24896259
nsv1160584 CNV deletion 26073780
nsv1160585 CNV deletion 26073780
nsv138450 CNV deletion 16902084
nsv2416 CNV insertion 18451855
nsv474932 CNV novel sequence insertion 20440878
nsv833745 CNV loss 17160897
nsv833746 CNV loss 17160897
nsv833748 CNV loss 17160897

Variation tolerance for DNM2 Gene

Residual Variation Intolerance Score: 3.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNM2 Gene

Human Gene Mutation Database (HGMD)
DNM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNM2

SNP Genotyping and Copy Number Assay Products

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

Disorders for DNM2 Gene

MalaCards: The human disease database

(35) MalaCards diseases for DNM2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DNM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

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

Additional Disease Information for DNM2

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 DNM2: view

No data available for Genatlas for DNM2 Gene

Publications for DNM2 Gene

  1. Isolation of an ubiquitously expressed cDNA encoding human dynamin II, a member of the large GTP-binding protein family. (PMID: 7590285) Diatloff-Zito C … Merlin G (Gene 1995) 2 3 4 23 54
  2. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. (PMID: 20227276) Susman RD … North KN (Neuromuscular disorders : NMD 2010) 3 4 23 54
  3. Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. (PMID: 19932619) Melberg A … Laporte J (Neuromuscular disorders : NMD 2010) 3 4 23 54
  4. Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. (PMID: 19623537) Bitoun M … Guicheney P (Human mutation 2009) 3 4 23 54
  5. Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non-APOE-epsilon4 carriers. (PMID: 18236001) Aidaralieva NJ … Takeda M (Journal of human genetics 2008) 3 23 41 54

ExternalLinks

View latest publications for DNM2 gene in Mastermind

Products for DNM2 Gene

  • Addgene plasmids for DNM2