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Aliases for DNM2 Gene

Aliases for DNM2 Gene

  • Dynamin 2 2 3 5
  • Dynamin II 2 3
  • EC 3.6.5.5 4 61
  • DYN2 3 4
  • Cytoskeletal Protein 2
  • Dynamin-2 3
  • 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
  • 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 and Lethal Congenital Contracture Syndrome 5. Among its related pathways are Metabolism and Gap junction trafficking. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is DNM3.

UniProtKB/Swiss-Prot 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNM2 Gene

Genomics for DNM2 Gene

Regulatory Elements for DNM2 Gene

Enhancers for DNM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F010746 1.8 FANTOM5 Ensembl ENCODE 17.8 +39.2 39161 20.8 MLX DMAP1 YY1 SLC30A9 ZNF143 ZNF263 MCM3 SP3 NFYC TBX21 FBXL12 HNRNPA1P10 SLC44A2 CDKN2D ZNF627 RAVER1 DNM2 KRI1 MIR638 PRKCSH
GH19F010601 1.4 FANTOM5 ENCODE 6.9 -113.9 -113930 4.4 ARID4B DMAP1 ZNF2 ZNF121 GLIS2 KLF7 SP3 YY2 SP5 REST SLC44A2 CDKN2D KRI1 ICAM3 ILF3 ZNF627 PRKCSH ELOF1 TYK2 DNM2
GH19F010729 1.4 FANTOM5 Ensembl ENCODE 6.6 +13.3 13274 4.3 HDGF CTCF PKNOX1 MAX ZIC2 POLR2A ADNP ETV6 NR2F6 ZSCAN29 SLC44A2 CDKN2D KRI1 ILF3 ILF3-AS1 S1PR5 SMARCA4 DNM2 ICAM3 TYK2
GH19F010345 1.4 FANTOM5 Ensembl ENCODE 5.8 -371.5 -371547 1.8 HDAC1 ATF1 PKNOX1 ARID4B YY1 CREM CEBPB SMARCA4 PBX2 CEBPA CDKN2D ICAM3 SLC44A2 TYK2 RAVER1 DNM2 ICAM1 ATG4D GC19M010353
GH19F010192 1.4 FANTOM5 ENCODE 4.8 -523.7 -523745 3.4 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 FBXL12 ZNF561 EIF3G UBE2L4 ENSG00000267510 LOC100128428 MIR1181 PPAN PPAN-P2RY11 ANGPTL6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNM2 on UCSC Golden Path with GeneCards custom track

Promoters for DNM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000042974 347 2801 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1

Genomic Location for DNM2 Gene

Chromosome:
19
Start:
10,718,053 bp from pter
End:
10,833,488 bp from pter
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 StructureGene Density

RefSeq DNA sequence for DNM2 Gene

Proteins for DNM2 Gene

  • 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).
    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

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 Lys 393 and Lys 669
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DNM2 (DYN2)

Domains & Families for DNM2 Gene

Gene Families for DNM2 Gene

Graphical View of Domain Structure for InterPro Entry

P50570

UniProtKB/Swiss-Prot:

DYN2_HUMAN :
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
Domain:
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
  • Contains 1 GED domain.
  • Contains 1 PH domain.
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

Molecular function for DNM2 Gene

GENATLAS Biochemistry:
dynamin 2,large GTPase,ubiquitously expressed,predominantly in skeletal muscle and heart,potentially involved in the G2/mitosis transition
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + H(2)O = GDP + phosphate.
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).

Enzyme Numbers (IUBMB) 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 IEA,NAS 7590285
GO:0008017 microtubule binding 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:

Animal Model Products

  • Taconic Biosciences Mouse Models for DNM2

Flow Cytometry Products

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 cell membrane, 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
extracellular 5
cytoskeleton 5
cytosol 5
golgi apparatus 5
mitochondrion 4
nucleus 3
endosome 3
peroxisome 1
endoplasmic reticulum 1
lysosome 1

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:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
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

SIGNOR curated interactions for DNM2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

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 --
GO:0002031 G-protein coupled receptor internalization IEA --
GO:0003281 ventricular septum development IEA --
GO:0003374 dynamin family protein polymerization involved in mitochondrial fission IBA --
genes like me logo Genes that share ontologies with DNM2: view

Drugs & Compounds for DNM2 Gene

(14) 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
Dynasore Pharma Dynamin and GTPase inhibitor, Non-competitive dynamin inhibitor 0

(6) Additional Compounds for DNM2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(5) 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
Dynasore Non-competitive dynamin inhibitor 304448-55-3
Mdivi 1 Dynamin inhibitor; attenuates mitochondrial division and apoptosis 338967-87-6
ML 141 Selective inhibitor of Cdc42 Rho family GTPase 71203-35-5

(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

mRNA/cDNA for DNM2 Gene

(5) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(22) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DNM2 Gene

Dynamin 2:
Representative Sequences:

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
DNM2

Expression for DNM2 Gene

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



Protein tissue co-expression partners for DNM2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNM2 Gene:

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.
genes like me logo Genes that share expression patterns with DNM2: view

Primer Products

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 34 35
  • 97.42 (n)
oppossum
(Monodelphis domestica)
Mammalia DNM2 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNM2 34 35
  • 90.84 (n)
cow
(Bos Taurus)
Mammalia DNM2 34 35
  • 90.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNM2 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnm2 34
  • 88.81 (n)
mouse
(Mus musculus)
Mammalia Dnm2 34 16 35
  • 88.01 (n)
chicken
(Gallus gallus)
Aves DNM2 35
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNM2 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnm2 34
  • 79.36 (n)
zebrafish
(Danio rerio)
Actinopterygii dnm2a 35
  • 88 (a)
OneToMany
dnm2b 34
  • 77.5 (n)
DNM2 (1 of 2) 35
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta shi 36
  • 68 (a)
worm
(Caenorhabditis elegans)
Secernentea dyn-1 36
  • 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)

Paralogs for DNM2 Gene

Paralogs for DNM2 Gene

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

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

Variants for DNM2 Gene

Sequence variations from dbSNP and Humsavar for DNM2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs121909088 Charcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB) [MIM:606482], Pathogenic 10,819,992(+) AGAAG(A/G)AGTAC reference, missense
rs121909089 Myopathy, centronuclear, 1 (CNM1) [MIM:160150], Pathogenic 10,793,833(+) CGAGC(A/G/T)GTTCC reference, missense
rs121909090 Myopathy, centronuclear, 1 (CNM1) [MIM:160150], Pathogenic 10,793,832(+) ACGAG(C/T)GGTTC reference, missense
rs121909091 Myopathy, centronuclear, 1 (CNM1) [MIM:160150], Pathogenic 10,798,543(+) ACATC(C/T)GGGAA reference, missense
rs121909092 Myopathy, centronuclear, 1 (CNM1) [MIM:160150], Pathogenic 10,793,829(+) TCCAC(A/G)AGCGG reference, missense

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

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

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)

Relevant External Links for DNM2 Gene

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

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

Disorders for DNM2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for DNM2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
lethal congenital contracture syndrome 5
  • fetal akinesia-cerebral and retinal hemorrhage syndrome
charcot-marie-tooth disease, dominant intermediate b
  • charcot-marie-tooth disease, axonal, type 2m
myotubular myopathy, x-linked
  • myopathy, centronuclear, x-linked
dnm2-related intermediate charcot-marie-tooth neuropathy
  • charcot-marie-tooth disease, dominant intermediate b
- 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
  • Charcot-Marie-Tooth disease 2M (CMT2M) [MIM:606482]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:17636067, ECO:0000269 PubMed:18560793}. 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}. 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.
  • 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.

Relevant External Links for DNM2

Genetic Association Database (GAD)
DNM2
Human Genome Epidemiology (HuGE) Navigator
DNM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNM2
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 22 64
  2. Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. (PMID: 19932619) Melberg A. … Laporte J. (Neuromuscul. Disord. 2010) 3 4 22 64
  3. Expanding the clinical, pathological and MRI phenotype of DNM2- related centronuclear myopathy. (PMID: 20227276) Susman R.D. … North K.N. (Neuromuscul. Disord. 2010) 3 4 22 64
  4. Dynamin 2 mutations associated with human diseases impair clathrin- mediated receptor endocytosis. (PMID: 19623537) Bitoun M. … Guicheney P. (Hum. Mutat. 2009) 3 4 22 64
  5. Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non-APOE-epsilon4 carriers. (PMID: 18236001) Aidaralieva N.J. … Takeda M. (J. Hum. Genet. 2008) 3 22 46 64

Products for DNM2 Gene

  • Addgene plasmids for DNM2

Sources for DNM2 Gene

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