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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]
DNM2 (Dynamin 2) is a Protein Coding gene. Diseases associated with DNM2 include Myopathy, Centronuclear, 1 and Charcot-Marie-Tooth Disease, Dominant Intermediate B. Among its related pathways are Integrin Pathway and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is DNM3.
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.
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 | IBA,NAS | 7590285 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0001891 | phagocytic cup | IEA | -- |
GO:0001917 | photoreceptor inner segment | IEA | -- |
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Endocytic Trafficking of EGFR |
Endocytic Trafficking of EGFR
.41
|
Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
.35
|
2 | Clathrin derived vesicle budding | ||
3 | Gap junction trafficking | ||
4 | eNOS activation and regulation | ||
5 | Synaptic vesicle cycle |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000086 | G2/M transition of mitotic cell cycle | NAS | 7590285 |
GO:0000266 | mitochondrial fission | IBA | 21873635 |
GO:0002031 | G protein-coupled receptor internalization | IEA | -- |
GO:0003281 | ventricular septum development | IEA | -- |
GO:0003374 | dynamin family protein polymerization involved in mitochondrial fission | IBA | 21873635 |
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 |
|
14066-19-4, 14265-44-2 |
|
|||
ESI 09 |
|
263707-16-0 |
|
|
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 |
Compound | Action | Cas Number |
---|---|---|
Dynasore | Dynamin and GTPase inhibitor | 304448-55-3 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DNM2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DNM2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DNM2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DNM2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DNM2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dnm2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dnm2 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DNM2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DNM2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dnm2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dnm2a 31 |
|
OneToMany | |
dnm2b 30 |
|
||||
DNM2 (1 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | shi 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | dyn-1 32 |
|
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637071 | Uncertain Significance: Charcot-Marie-Tooth disease | 10,819,982(+) | GAAA/G | INFRAME_DELETION | |
637072 | Uncertain Significance: Charcot-Marie-Tooth disease | 10,820,047(+) | T/C | MISSENSE_VARIANT | |
637073 | Uncertain Significance: Charcot-Marie-Tooth disease | 10,819,986(+) | GAGA/G | INFRAME_DELETION | |
640060 | Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate B | 10,830,270(+) | G/A | MISSENSE_VARIANT | |
641192 | Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate B | 10,796,186(+) | A/G | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1712n106 | CNV | deletion | 24896259 |
esv2718170 | CNV | deletion | 23290073 |
esv2718171 | CNV | deletion | 23290073 |
esv3556025 | CNV | deletion | 23714750 |
esv3643658 | CNV | loss | 21293372 |
nsv1061882 | CNV | gain | 25217958 |
nsv1071909 | CNV | deletion | 25765185 |
nsv1072323 | CNV | deletion | 25765185 |
nsv1134753 | CNV | deletion | 24896259 |
nsv1160584 | CNV | deletion | 26073780 |
nsv1160585 | CNV | deletion | 26073780 |
nsv138450 | CNV | deletion | 16902084 |
nsv2416 | CNV | insertion | 18451855 |
nsv474932 | CNV | novel sequence insertion | 20440878 |
nsv833745 | CNV | loss | 17160897 |
nsv833746 | CNV | loss | 17160897 |
nsv833748 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, centronuclear, 1 |
|
|
charcot-marie-tooth disease, dominant intermediate b |
|
|
lethal congenital contracture syndrome 5 |
|
|
centronuclear myopathy |
|
|
myopathy, centronuclear, x-linked |
|