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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DNM2 Gene

protein-coding GIFtS: 71
GCID: GC19P010824

dynamin 2

Explore 34 diseases affiliated with
DNM2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Dynamin 2¹ ²		DYNII¹ ²
DYN2¹ ² ³		EC 3.6.5.5³ ⁸
CMTDI1¹ ² ⁵		CMT2M² ⁵
CMTDIB¹ ² ⁵		Dynamin II²
DI-CMTB¹ ²		Dynamin-2¹

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

Entrez Gene summary for DNM2:

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)

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:

Dynamin is a GTPase that is involved in endocytosis. GTPases are a group of enzymes that catalyze hydrolysis

of the ? 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. There are six main groups of GTPases; heterotrimeric G protein GTPases (E.C. 3.6.5.1),

small monomeric GTPases (E.C. 3.6.5.2), protein-synthesizing GTPases (E.C. 3.6.5.3),

signal-recognition-particle GTPase (E.C. 3.6.5.4), dynamin GTPases (E.C. 3.6.5.5) and tubulin GTPases (E.C.

3.6.5.6).

Gene Wiki entry for DNM2

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for DNM2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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 MYO1E (via SH3 domain)

Subcellular location: 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

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 Q5I0Y0 Q7Z5S3 Q9UPH4

Alternative splicing: 3 isoforms: P50570-1 P50570-2 P50570-3

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

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

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P50570

4/39 DME Specific Peptides for DNM2 (P50570) (see all 39)

SLSWYKD

AEFLHCK

GVVNRSQ

RPTIIRP

DNM2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001005360.1 NP_001005361.1 NP_001005362.1 NP_001177645.1 NP_004936.2

ENSEMBL proteins:

ENSP00000468734 ENSP00000352721 ENSP00000347890 ENSP00000386192 ENSP00000467430

ENSP00000466183 ENSP00000466603 ENSP00000466914 ENSP00000466621 ENSP00000373905

ENSP00000313164

Reactome Protein details: P50570
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: DNM2 OriGene Protein Over-expression Lysate (see all 2): DNM2 OriGene Custom Protein Services for DNM2
	GenScript Custom Purified and Recombinant Proteins Services for DNM2
	Novus Biologicals DNM2 Proteins Novus Biologicals DNM2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DNM2

Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	TAS	--
GO:0005634	nucleus	--	--
GO:0005737	cytoplasm	NAS	--
GO:0005829	cytosol	TAS	--
GO:0005874	microtubule	IDA	--

DNM2 for ontologies About GeneDecksing

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
	GenScript Custom Superior Antibodies Services for DNM2
	Novus Biologicals DNM2 Antibodies
	Abcam antibodies for DNM2
	Uscn Antibodies for DNM2
	ThermoFisher Antibody for DNM2

Assay Products for DNM2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DNM2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DNM2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DNM2 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR003130 GED

IPR001401 Dynamin_GTPase

IPR020850 GTPase_effector_domain_GED

IPR001849 Pleckstrin_homology

IPR022812 Dynamin

Graphical View of Domain Structure for InterPro Entry P50570

ProtoNet protein and cluster: P50570

2 Blocks protein families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

miRNA Products:		miRTarBase miRNAs that target DNM2: hsa-mir-124 (MIRT002670)

		OriGene 3'-UTR Clone (see all 4): DNM2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DNM2
		8/27 QIAGEN miScript miRNA 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 plasmid: DNM2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNM2 (see all 7) OriGene shRNA RFP: DNM2 OriGene siRNA: DNM2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNM2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for DNM2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNM2 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNM2 (see all 5) 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 Products:		GenScript Custom overexpressing Cell Line Services for DNM2
		Search LifeMap BioReagents cell lines for DNM2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNM2

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003924	GTPase activity	TAS	--
GO:0005515	protein binding	IPI	--
GO:0005525	GTP binding	NAS	7590285
GO:0005543	phospholipid binding	IEA	--
GO:0008017	microtubule binding	NAS	7590285

DNM2 for ontologies About GeneDecksing

Animal Models:
5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Dnm2):

cellular

growth/size

mortality/aging

muscle

normal

DNM2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/28 super-pathways (see all 28) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism of nitric oxide

	Metabolism of nitric oxide	1.00			NOSTRIN mediated translocation of eNOS from plasma membrane	0.29
	eNOS activation and regulation	1.00			NOSTRIN mediated eNOS trafficking	0.29

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69			Recycling pathway of L1	0.15

Clathrin derived vesicle budding

	Clathrin derived vesicle budding	1.00			Golgi Associated Vesicle Biogenesis	0.89
	trans-Golgi Network Vesicle Budding	1.00			Lysosome Vesicle Biogenesis	0.39

Transport of MHC II:Ii complex along Golgi to TGN

	Internalization of MHC II:Ii clathrin coated vesicle	0.52			Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)	0.00
	Endocytic Trafficking of EGFR	0.00			Retrograde neurotrophin signalling	0.00

Clathrin-dependent protein traffic

	Clathrin-dependent protein traffic	1.00			wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)	0.35
	Transport_Clathrin-coated vesicle cycle	0.66

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for DNM2

	Clathrin-dependent protein traffic
	G-protein signaling G-Protein beta/gamma signaling cascades

5 Downloadable PowerPoint Slides of QIAGEN 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

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

5/27 Reactome Pathways for DNM2 (see all 27)

	L1CAM interactions
	Developmental Biology
	Internalization of MHC II:Ii clathrin coated vesicle
	Membrane Trafficking
	Clathrin derived vesicle budding

4 Kegg Pathways (Kegg details for DNM2):

	Endocytosis
	Fc gamma R-mediated phagocytosis
	Endocrine and other factor-regulated calcium reabsorption
	Bacterial invasion of epithelial cells

DNM2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DNM2

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

5/866 Interacting proteins for DNM2 (P50570^{1, 2, 3} ENSP00000352721⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 866)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GRB2	P62993¹^,²^,³, ENSP00000339007⁴	EBI-3959204,EBI-401755 MINT-65955 MINT-2516705 I2D: score=5 STRING: ENSP00000339007
PACSIN2	Q9UNF0²^,³, ENSP00000263246⁴	MINT-7144701 MINT-7144795 MINT-7144808 MINT-7144776 I2D: score=1 STRING: ENSP00000263246
SH3BP4	Q9P0V3²^,³, ENSP00000340237⁴	MINT-7160580 MINT-7160249 MINT-7160329 I2D: score=1 STRING: ENSP00000340237
SORBS1	Q9BX66²^,³, ENSP00000355136⁴	MINT-6804344 MINT-6804446 MINT-6804464 I2D: score=1 STRING: ENSP00000355136
CCT7	Q99832²^,³	MINT-7945693 MINT-8254382 MINT-7947479 I2D: score=2

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000086	G2/M transition of mitotic cell cycle	NAS	7590285
GO:0006184	GTP catabolic process	TAS	--
GO:0006355	regulation of transcription, DNA-dependent	NAS	10893263
GO:0006892	post-Golgi vesicle-mediated transport	TAS	--
GO:0006897	endocytosis	NAS	10101292

DNM2 for ontologies About GeneDecksing

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

DNM2 for compounds About GeneDecksing

EMD Millipore small molecules for DNM2:
Small Molecule - inhibitor

Enzo Life Sciences drugs & compounds for DNM2

Compounds for DNM2 available from Tocris Bioscience About this table

Compound	Action	CAS #
Dynamin inhibitory peptide, myristoylated	Cell-permeable dynamin inhibitor	[251634-22-7]
Dynamin inhibitory peptide	Dynamin inhibitor	[251634-21-6]
Dynasore	Non-competitive dynamin inhibitor	[304448-55-3]

4 HMDB Compounds for DNM2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

10 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about DNM2 / DYN2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
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, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):

ENST00000585892 ENST00000359692 ENST00000355667(uc002mpt.2 uc010dxl.2 uc002mpu.2)

ENST00000408974(uc002mps.2 uc002mpv.2 uc002mpw.3) ENST00000586939

ENST00000588976 ENST00000591266 ENST00000587991 ENST00000591819 ENST00000591701

ENST00000591118 ENST00000587485 ENST00000586130 ENST00000588392 ENST00000593220

ENST00000587329 ENST00000587830 ENST00000590806

miRNA Products:		OriGene 3'-UTR Clone (see all 4): DNM2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DNM2
		8/27 QIAGEN miScript miRNA 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 plasmid: DNM2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNM2 (see all 7) OriGene shRNA RFP: DNM2 OriGene siRNA: DNM2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNM2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNM2 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNM2 (see all 5) 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 Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNM2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DNM2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNM2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNM2

Additional cDNA 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:

CB117594 AK092344 BE393555 BE388680 BF945882

GeneLoc Exon Structure

5/11 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™, 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

DNM2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTCCCTGAT

About this image

DNM2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Cap Mesenchyme

Cap Mesenchyme Cells

Kidney

Kidney

S-shaped Body

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See DNM2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DNM2

SOURCE GeneReport for Unigene cluster: Hs.211463

UniProtKB/Swiss-Prot: DYN2_HUMAN, P50570

Tissue specificity: Ubiquitously expressed

SABiosciences Expression via Pathway-Focused PCR Arrays including DNM2:

Adherens Junctions in human mouse rat

Oxidative Stress in human mouse rat

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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 animals.

Orthologs for DNM2 gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dnm2^{1 , 5}	dynamin 2^{1, 5}	89.3(n)¹ 98.15(a)¹		9 (7.79 cM)⁵ 13430¹ NM_007871.2¹ NP_031897.2¹ 21424908⁵
lizard (Anolis carolinensis)	Reptilia	DNM2⁶	--	93(a)	1 ↔ 1	2(80701506-80781099)
zebrafish (Danio rerio)	Actinopterygii	dnm2¹	dynamin 2	78.92(n) 88.95(a)		559334 NM_001030128.1 NP_001025299.1
fruit fly (Drosophila melanogaster)	Insecta	shi³	cellularization actin binding	68(a)		1 13F18 --
worm (Caenorhabditis elegans)	Secernentea	dyn-1³	dynamin	67(a)		X(15604145-15608173) --

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)
About This Section

Paralogs for DNM2 gene

DNM1² MX2² DNM3² MX1²

6 SIMAP similar genes for DNM2 using alignment to 10 protein entries: DYN2_HUMAN (see all proteins):

DNM3 DNM1 DNM1P34 DNM1L MX2 MX1

DNM2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for DNM2
PGOHUM00000261174

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121909095^1,2	C	pathogenic	18038370(+)	`GGCCTC/G/TGTTCC`	15	S W L	mis¹		0	--	--	--	--
rs77937303^1,2	F,	--	10404377(+)	`TCCACT/CGTCAG`	5	--	us2k¹		1		WA	118
rs8103559^1,2	C,H,	--	10404631(+)	`gctggG/Acatag`	5	--	us2k¹		7		NS EA CSA WA NA	658
rs8103948^1,2	C,	--	10404987(+)	`tggttG/Caaccg`	5	--	us2k¹		3		NA CSA	6
rs73007519^1,2	C,	--	10405333(+)	`TCCCCA/TGTGCC`	5	--	us2k¹		0	--	--	--	--
rs113305450^1,2		--	10406515(+)	`CAGGGC/GGCCGT`	5	--	int¹		2		CSA WA	120
rs75654370^1,2	F,	--	10406535(+)	`GGTGCG/CCTGGA`	5	--	int¹		1		WA	118
rs11666575^1,2	C,H	--	10408285(+)	`agagaC/Tggggt`	5	--	int¹		0	--	--	--	--
rs11672504^1,2	C,A,H,	--	10408568(+)	`gtgatT/Cgcacc`	5	--	int¹		4		NA CSA WA	242
rs61692159^1,2		--	10409398(+)	`TCTTTG/CGGTAT`	5	--	int¹		3		CSA WA NA	240

HapMap Linkage Disequilibrium report for DNM2 (10828729 - 10944164 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for DNM2
3 CNVs: 5087 5939 5086
Human Gene Mutation Database (HGMD): DNM2

Locus Specific Mutation Databases (LSDB): DNM2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNM2

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(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.)
About This Section

DNM2 for disorders           About GeneDecksing

OMIM gene information: 602378
OMIM disorders: 606482  160150
UniProtKB/Swiss-Prot: DYN2_HUMAN, P50570

Defects in DNM2 are a cause of centronuclear myopathy type 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

Defects in DNM2 are the cause of Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB)

[MIM:606482]. Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous 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. CMTDIB is a form of Charcot-Marie-Tooth disease 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

Defects in DNM2 are the cause of Charcot-Marie-Tooth disease type 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 regeneration 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

20/34 diseases for DNM2 (see all 34): About MalaCards

charcot-marie-tooth disease charcot-marie-tooth disease, axonal, type 2m charcot-marie-tooth disease type 2 charcot-marie-tooth neuropathy

tooth disease centronuclear myopathy wiskott-aldrich syndrome duchenne muscular dystrophy

hereditary spherocytosis muscular dystrophy larsen syndrome atelosteogenesis

myopathy anorexia nervosa peripheral neuropathy herpes simplex

spherocytosis muscle disorders neuropathy squamous cell carcinoma

4 diseases from the University of Copenhagen DISEASES database for DNM2:

Myopathy Neuropathy Boomerang dysplasia Larsen syndrome

4 Novoseek 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)

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)
About This Section

PubMed articles for DNM2 gene, integrated from 9 sources (see all 230):
(articles sorted by number of sources associating them with DNM2)

Utopia: connect your pdf to the dynamic
world of online information

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. (1995)
Dynamin 2 mutations associated with human diseases impair clathrin- mediated receptor endocytosis. (PubMed id 19623537)^{1, 2, 9} Bitoun M.... Guicheney P. (2009)
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. (PubMed id 17636067)^{1, 2, 9} Fabrizi G.M.... Rizzuto N. (2007)
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. (2005)
Expanding the clinical, pathological and MRI phenotyp e of DNM2-related centronuclear myopathy. (PubMed id 20227276)^{1, 2, 9} Susman R.D....North K.N. (2010)
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. (2007)
Adult course in dynamin 2 dominant centronuclear myop athy with neonatal onset. (PubMed id 19932619)^{1, 2, 9} Melberg A....Laporte J. (2010)
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. (2008)
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. (PubMed id 17932957)^{1, 2, 9} Bitoun M....Guicheney P. (2007)
Mutations in dynamin 2 cause dominant centronuclear myopathy. (PubMed id 16227997)^{1, 2, 9} Bitoun M.... Guicheney P. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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: 1785	HGNC: 2974	AceView: DNM2.1	Ensembl:ENSG00000079805	euGenes: HUgn1785
ECgene: DNM2	Kegg: 1785	H-InvDB: DNM2

(According to HUGE)
About This Section

(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

Name	Description
PharmGKB entry for DNM2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DNM2
The UMD-DNM2-isoform 1 mutations database	http://www.umd.be/DNM2/

Intellectual Property for DNM2 gene
(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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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Advanced Cell Diagnostics
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