Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
DNM3 (Dynamin 3) is a Protein Coding gene. Diseases associated with DNM3 include Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy and Neuropathy, Hereditary Sensory, Type Id. Among its related pathways are Synaptic vesicle cycle and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is DNM1.
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,ISS | -- |
GO:0005515 | protein binding | IPI | 15252009 |
GO:0005525 | GTP binding | IEA | -- |
GO:0008017 | microtubule binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001917 | photoreceptor inner segment | IEA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005874 | microtubule | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Synaptic vesicle cycle | ||
2 | Developmental Biology |
.51
|
|
3 | Innate Immune System |
.61
|
|
4 | Vesicle-mediated transport | ||
5 | RET signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000266 | mitochondrial fission | IBA | 21873635 |
GO:0003374 | dynamin family protein polymerization involved in mitochondrial fission | IBA | 21873635 |
GO:0006897 | endocytosis | ISS | -- |
GO:0007416 | synapse assembly | ISS | -- |
GO:0016185 | synaptic vesicle budding from presynaptic endocytic zone membrane | 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 | |
---|---|---|---|---|---|---|
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 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DNM3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DNM3 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DNM3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DNM3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dnm3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dnm3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | DNM3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DNM3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dnm3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dnm3 31 |
|
OneToOne | |
dnm2a 30 |
|
||||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.10361 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.4720 30 |
|
||
Barley (Hordeum vulgare) |
Liliopsida | Hv.2342 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os.27352 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.307 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.5017 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715436 | Benign: not provided | 172,388,786(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
743313 | Likely Benign: not provided | 172,068,913(+) | G/T | INTRON_VARIANT | |
791227 | Benign: not provided | 172,379,182(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
rs781193654 | Uncertain Significance: not provided | 172,038,338(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2615149 | CNV | deletion | 19546169 |
esv2664393 | CNV | deletion | 23128226 |
esv2670196 | CNV | deletion | 23128226 |
esv275460 | CNV | loss | 21479260 |
esv3332602 | CNV | insertion | 20981092 |
esv3587919 | CNV | loss | 21293372 |
esv3587920 | CNV | loss | 21293372 |
esv3587922 | CNV | loss | 21293372 |
esv3587923 | CNV | loss | 21293372 |
nsv1000079 | CNV | loss | 25217958 |
nsv1006542 | CNV | loss | 25217958 |
nsv3521 | CNV | insertion | 18451855 |
nsv3532 | CNV | deletion | 18451855 |
nsv3543 | CNV | deletion | 18451855 |
nsv465650 | CNV | loss | 19166990 |
nsv477367 | CNV | novel sequence insertion | 20440878 |
nsv508047 | OTHER | sequence alteration | 20534489 |
nsv548192 | CNV | loss | 21841781 |
nsv831893 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy |
|
|
neuropathy, hereditary sensory, type id |
|
|
centronuclear myopathy |
|
|
sezary's disease |
|
|