Aliases for DNM2 Gene
Aliases for DNM2 Gene
External Ids for DNM2 Gene
- HGNC: 2974
- Entrez Gene: 1785
- Ensembl: ENSG00000079805
- OMIM: 602378
- UniProtKB: P50570
Previous GeneCards Identifiers for DNM2 Gene
- GC19P010959
- GC19P011051
- GC19P010673
- GC19P010824
- GC19P010405
Summaries 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 wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) and Cytoskeletal Signaling. 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).
-
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.
Additional gene information for DNM2 Gene
- Monarch Initiative
- Search for DNM2 at DataMed
- Search for DNM2 at HumanCyc
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
- 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:
-
- STAT3
Regulatory Element Products
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:
-
- 19p13.2 by Entrez Gene
- 19p13.2 by HGNC
- 19p13.2 by Ensembl
DNM2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for DNM2 Gene
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 Lys669 and posLast=393393
- Modification sites at PhosphoSitePlus
Other Protein References for DNM2 Gene
Antibody Products
- Novus Biologicals Antibodies for DNM2
- Invitrogen Antibodies for DNM2
- GeneTex DNM2 Antibody for DNM2
-
Santa Cruz Biotechnology (SCBT) Antibodies for DNM2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for DNM2
- Origene Custom Protein Services for DNM2
- Search GeneTex for Proteins for DNM2
Assay Products
No data available for DME Specific Peptides for DNM2 Gene
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
Protein Domains for DNM2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DNM2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P50570UniProtKB/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.
Function for DNM2 Gene
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:
- GTP + H(2)O = GDP + phosphate.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003924 | GTPase activity | IEA,TAS | -- |
| GO:0005515 | protein binding | IPI | 10542231 |
| GO:0005525 | GTP binding | NAS,IEA | 7590285 |
| GO:0008017 | microtubule binding | NAS,IBA | 7590285 |
Phenotypes for DNM2 Gene
- MGI mutant phenotypes for DNM2:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for DNM2:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased HIV-1 infection
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Strongly decreased CFP-tsO45G cell surface transport
- Increased viability with SS1P at EC90
- Increased Sindbis virus (SINV) infection
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
Animal Model Products
-
Taconic Biosciences Mouse Models for DNM2
- Cyagen custom Knockout/knockin (KOKI) mouse models for DNM2
-
CRISPR Products
-
OriGene CRISPR knockouts for DNM2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNM2
- genomics-online: gRNA clones - Search results for available DNM2 gene related products
- Applied Biological Materials CRISPR for DNM2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNM2
- GenScript: Design CRISPR guide RNA sequences for DNM2
miRNA for DNM2 Gene
- miRTarBase miRNAs that target DNM2
-
- hsa-mir-124-3p (MIRT002670)
- hsa-mir-130a-3p (MIRT007139)
- hsa-mir-615-3p (MIRT040188)
- hsa-mir-92a-3p (MIRT049062)
- hsa-mir-6875-5p (MIRT458908)
- hsa-mir-6809-5p (MIRT458909)
- hsa-mir-765 (MIRT458910)
- hsa-mir-711 (MIRT458911)
- hsa-mir-4784 (MIRT458912)
- hsa-mir-4708-3p (MIRT458913)
- hsa-mir-3150b-3p (MIRT458914)
- hsa-mir-6840-3p (MIRT458915)
- hsa-mir-665 (MIRT458916)
- hsa-mir-4459 (MIRT458917)
- hsa-mir-4761-3p (MIRT458918)
- hsa-mir-7843-5p (MIRT458919)
- hsa-mir-6879-5p (MIRT458920)
- hsa-mir-6735-5p (MIRT458921)
- hsa-mir-4632-5p (MIRT458922)
- hsa-mir-4436b-3p (MIRT458923)
- hsa-mir-6859-5p (MIRT458924)
- hsa-mir-3916 (MIRT458925)
- hsa-mir-3125 (MIRT458926)
- ssc-mir-124a (MIRT734112)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNM2
- Browse OriGene Inhibitory RNA Products For DNM2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNM2
- genomics-online: shRNA clones - Search results for available DNM2 gene related products
Clone Products
-
OriGene ORF clones in human for DNM2
- RC223585L1V
- RC223585L2V
- RC223637L1V
- RC223637L2V
- RC223757L1V
- RC223757L2V
- RC230884L1V
- RC230884L2V
- RC208525L1V
- RC208525L2V
- RC223585
- RC223585L1
- RC223585L2
- RG223585
- RC223637
- RC223637L1
- RC223637L2
- RG223637
- RC223757
- RC223757L1
- RC223757L2
- RG223757
- RC230884
- RC230884L1
- RC230884L2
- RG230884
- RC208525
- RC208525L1
- RC208525L2
- RG208525
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DNM2
- VectorBuilder custom plasmid, inducible vectors for DNM2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DNM2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DNM2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNM2
- genomics-online: cdna clones - Search results for available DNM2 gene related products
- orf clones - Search results for available DNM2 gene related products
- Applied Biological Materials Clones for DNM2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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}.
| 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 |
- Cytosol (2)
- Golgi apparatus (2)
| 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 | IBA,IEA | -- |
Pathways & Interactions for DNM2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Endocytic Trafficking of EGFR | ||
| 2 | Clathrin derived vesicle budding | ||
| 3 | Gap junction trafficking | ||
| 4 | eNOS activation and regulation | ||
| 5 | Synaptic vesicle cycle | ||
Pathways by source for DNM2 Gene
1 Sino Biological pathway for DNM2 Gene
4 BioSystems pathways for DNM2 Gene
29 Reactome pathways for DNM2 Gene
4 GeneGo (Thomson Reuters) pathways for DNM2 Gene
1 R&D Systems pathway for DNM2 Gene
5 Qiagen pathways for DNM2 Gene
1 Cell Signaling Technology pathway for DNM2 Gene
Interacting Proteins for DNM2 Gene
Selected Interacting proteins:
P50570-DYN2_HUMAN
ENSP00000347890
for DNM2 Gene via
IID
MINT
UniProtKB
STRING
GPS-Prot Interaction Network for DNM2
SIGNOR curated interactions 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 | -- |
Drugs & Compounds for DNM2 Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Phosphate |
|
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 |
Transcripts for DNM2 Gene
mRNA/cDNA for DNM2 Gene
- (5) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (453) Selected AceView cDNA sequences:
- (22) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000355667 3541 bps (uc002mpt.3)
- ENST00000359692 3588 bps (uc002mpu.3)
- ENST00000389253 3581 bps (uc002mps.3)
- ENST00000408974 3013 bps (uc002mpv.3)
- ENST00000585892 2774 bps (uc010dxl.3)
CRISPR Products
-
OriGene CRISPR knockouts for DNM2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNM2
- genomics-online: gRNA clones - Search results for available DNM2 gene related products
- Applied Biological Materials CRISPR for DNM2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNM2
- GenScript: Design CRISPR guide RNA sequences for DNM2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNM2
- Browse OriGene Inhibitory RNA Products For DNM2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNM2
- genomics-online: shRNA clones - Search results for available DNM2 gene related products
Clone Products
-
OriGene ORF clones in human for DNM2
- RC223585L1V
- RC223585L2V
- RC223637L1V
- RC223637L2V
- RC223757L1V
- RC223757L2V
- RC230884L1V
- RC230884L2V
- RC208525L1V
- RC208525L2V
- RC223585
- RC223585L1
- RC223585L2
- RG223585
- RC223637
- RC223637L1
- RC223637L2
- RG223637
- RC223757
- RC223757L1
- RC223757L2
- RG223757
- RC230884
- RC230884L1
- RC230884L2
- RG230884
- RC208525
- RC208525L1
- RC208525L2
- RG208525
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DNM2
- VectorBuilder custom plasmid, inducible vectors for DNM2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DNM2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DNM2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNM2
- genomics-online: cdna clones - Search results for available DNM2 gene related products
- orf clones - Search results for available DNM2 gene related products
- Applied Biological Materials Clones for DNM2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for DNM2 Gene
mRNA differential expression in normal tissues according to GTEx for DNM2 Gene
This gene is overexpressed in Whole Blood (x4.8).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of DNM2 Gene:
DNM2SOURCE GeneReport for Unigene cluster for DNM2 Gene:
Hs.211463mRNA 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
Primer Products
-
OriGene qPCR primer pairs and template standards for DNM2
-
OriGene qPCR primer pairs for DNM2
- genomics-online: primer clones - Search results for available DNM2 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DNM2 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | DNM2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | DNM2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | DNM2 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | DNM2 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Dnm2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Dnm2 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | DNM2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | DNM2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dnm2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dnm2a 34 |
|
OneToMany | |
| dnm2b 33 |
|
||||
| DNM2 (1 of 2) 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | shi 35 |
|
|
|
| worm (Caenorhabditis elegans) |
Secernentea | dyn-1 35 |
|
|
- 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
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNM2 Gene
Disorders for DNM2 Gene
(19) MalaCards diseases for DNM2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, centronuclear, 1 |
|
|
| lethal congenital contracture syndrome 5 |
|
|
| charcot-marie-tooth disease, dominant intermediate b |
|
|
| dnm2-related intermediate charcot-marie-tooth neuropathy |
|
|
| centronuclear myopathy |
|
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. 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.
Additional Disease Information for DNM2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for DNM2 Gene
Publications for DNM2 Gene
- 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
- 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
- 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
- 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
- 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
Products for DNM2 Gene
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- OriGene qPCR primer pairs for DNM2
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- OriGene ORF clones in human for DNM2
- RC223585L1V
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- Taconic Biosciences Mouse Models for DNM2
- Find your next knockout model in the Taconic Knockout Repository
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- Humanized Mice
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- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DNM2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DNM2
- antibodies-online: Search results for 46 available DNM2 Antibodies ranked by validation data
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- GeneTex DNM2 Antibody for DNM2
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- genomics-online: cdna clones - Search results for available DNM2 gene related products
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Sources for DNM2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
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- (15) Blocks
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- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
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- (41) dbSNP
- (42) GenAtlas
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- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
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- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
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- (60) TGDB
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- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
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- (92) COMPARTMENTS
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