Homo sapiens Protein: DNM2 | |||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||||||||||||||
InnateDB Protein | IDBP-28178.6 | ||||||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||||
Gene Symbol | DNM2 | ||||||||||||||||||||||||||||||||||
Protein Name | dynamin 2 | ||||||||||||||||||||||||||||||||||
Synonyms | CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII; LCCS5; | ||||||||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000352721 | ||||||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-28168 (DNM2) | ||||||||||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||||||||||
Function | Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis. {ECO:0000269PubMed:12498685}. | ||||||||||||||||||||||||||||||||||
Subcellular Localization | Cytoplasm. Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse. Midbody. Note=Microtubule- associated. Also found in the postsynaptic density of neuronal cells. | ||||||||||||||||||||||||||||||||||
Disease Associations | 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:0000269PubMed:16227997, ECO:0000269PubMed:17825552, ECO:0000269PubMed:17932957, ECO:0000269PubMed:19122038, ECO:0000269PubMed:19623537, ECO:0000269PubMed:19932619, ECO:0000269PubMed:19932620, ECO:0000269PubMed:20227276, ECO:0000269PubMed: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:0000269PubMed: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:0000269PubMed:15731758}. 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:0000269PubMed:17636067, ECO:0000269PubMed:18560793}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||||||||||
Tissue Specificity | Ubiquitously expressed. | ||||||||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 116 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
|
||||||||||||||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||||||||
InterPro |
IPR000375
Dynamin central domain IPR001401 Dynamin, GTPase domain IPR001849 Pleckstrin homology domain IPR003130 Dynamin GTPase effector IPR022812 Dynamin superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase |
||||||||||||||||||||||||||||||||||
PFAM |
PF01031
PF00350 PF00169 PF02212 |
||||||||||||||||||||||||||||||||||
PRINTS |
PR00195
|
||||||||||||||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||||||||||||||
SMART |
SM00053
SM00233 SM00302 |
||||||||||||||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||||
SwissProt | P50570 | ||||||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-P50570 | ||||||||||||||||||||||||||||||||||
TrEMBL | Q9UPH5 | ||||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||||
Entrez Gene | 1785 | ||||||||||||||||||||||||||||||||||
UniGene | Hs.671264 | ||||||||||||||||||||||||||||||||||
RefSeq | NP_004936 | ||||||||||||||||||||||||||||||||||
HUGO | HGNC:2974 | ||||||||||||||||||||||||||||||||||
OMIM | 602378 | ||||||||||||||||||||||||||||||||||
CCDS | CCDS32907 | ||||||||||||||||||||||||||||||||||
HPRD | 03852 | ||||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||||
EMBL | AC007229 AC011475 AC011552 AC011554 AC112707 AK289831 AK312260 BC039596 BC054501 L36983 | ||||||||||||||||||||||||||||||||||
GenPept | AAA88025 AAD23603 AAD23604 AAH39596 AAH54501 BAF82520 | ||||||||||||||||||||||||||||||||||