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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 56
  • 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, 1 and Lethal Congenital Contracture Syndrome 5. Among its related pathways are Clathrin derived vesicle budding and Integrin Pathway. 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 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 , fRNAdb sequence ontologies 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
GH19I010717 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 553 +1.1 1102 3.7 HDGF PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A FEZF1 ZNF2 ZBTB7B DNM2 MIR638 GC19P010718 KRI1 EIF3G ILF3 FBXL12 RAVER1 TIMM29 PPAN
GH19I010601 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.9 -113.9 -113930 4.4 ARID4B DMAP1 ZNF2 TCF12 ZNF121 ZNF766 GLIS2 ZNF213 ZNF143 KLF7 SLC44A2 CDKN2D KRI1 ICAM3 ILF3 ZNF627 PRKCSH TYK2 DNM2 S1PR5
GH19I010757 Enhancer 1.4 Ensembl ENCODE dbSUPER 12 +44.7 44656 9.8 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 IRF4 YY1 SLC30A9 ZNF207 MIR199A1 SLC44A2 MIR638 DNM2 KRI1 CDKN2D SMARCA4 MIR4748 PIR47140
GH19I010593 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.7 -123.9 -123936 1.6 HDGF KLF1 EBF1 IRF4 ATF7 BCLAF1 IKZF2 RUNX3 ZNF687 NR2F1 KRI1 CDKN2D ILF3 ZNF561 EIF3G TIMM29 PPAN ZNF627 RAVER1 SWSAP1
GH19I010729 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 6.6 +13.4 13374 4.1 HDGF CTCF PKNOX1 MAX ZIC2 POLR2A ATF7 ETV6 BCLAF1 RUNX3 SLC44A2 CDKN2D KRI1 ILF3 ILF3-AS1 S1PR5 SMARCA4 DNM2 ICAM3 TYK2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNM2 on UCSC Golden Path with GeneCards custom track

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

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)

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 posLast=393393 and posLast=669669

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

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

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

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 TAS,IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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 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
endosome 4
nucleus 3
peroxisome 1
endoplasmic reticulum 1
lysosome 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:0005634 nucleus IEA --
GO:0005737 cytoplasm 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

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 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

(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

Unigene Clusters for DNM2 Gene

Dynamin 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
DNM2

Expression for DNM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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.

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)

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

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 33 34
  • 97.42 (n)
oppossum
(Monodelphis domestica)
Mammalia DNM2 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNM2 33 34
  • 90.84 (n)
cow
(Bos Taurus)
Mammalia DNM2 33 34
  • 90.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNM2 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnm2 33
  • 88.81 (n)
mouse
(Mus musculus)
Mammalia Dnm2 33 16 34
  • 88.01 (n)
chicken
(Gallus gallus)
Aves DNM2 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNM2 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnm2 33
  • 79.36 (n)
zebrafish
(Danio rerio)
Actinopterygii dnm2a 34
  • 88 (a)
OneToMany
dnm2b 33
  • 77.5 (n)
DNM2 (1 of 2) 34
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta shi 35
  • 68 (a)
worm
(Caenorhabditis elegans)
Secernentea dyn-1 35
  • 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 Variation AA Info Type
rs1038530314 uncertain-significance, Centronuclear Myopathy, Dominant, Charcot-Marie-Tooth, Intermediate 10,831,135(+) C/G 3_prime_UTR_variant
rs1057518858 uncertain-significance, Limb-girdle muscle weakness, Myofibrillar myopathy 10,786,663(+) T/C coding_sequence_variant, missense_variant
rs1060503547 uncertain-significance, DNM2-related intermediate Charcot-Marie-Tooth neuropathy 10,775,798(+) C/A coding_sequence_variant, missense_variant
rs1060504950 likely-benign, DNM2-related intermediate Charcot-Marie-Tooth neuropathy 10,777,176(+) C/T coding_sequence_variant, synonymous_variant
rs112238216 benign, likely-benign, not specified, Charcot-Marie-Tooth, Intermediate, Centronuclear Myopathy, Dominant, DNM2-related intermediate Charcot-Marie-Tooth neuropathy 10,793,804(+) C/T coding_sequence_variant, synonymous_variant

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)

Additional Variant Information 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

(19) MalaCards diseases for DNM2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, 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
  • 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, ECO:0000269 PubMed:19623537}. 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.

Additional Disease Information for DNM2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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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 58
  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 22 58
  3. Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. (PMID: 19932619) Melberg A … Laporte J (Neuromuscular disorders : NMD 2010) 3 4 22 58
  4. Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. (PMID: 19623537) Bitoun M … Guicheney P (Human mutation 2009) 3 4 22 58
  5. Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. (PMID: 18560793) Gallardo E … Berciano J (Journal of neurology 2008) 3 4 22 58

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