InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DNM2

Summary

InnateDB Protein

IDBP-28174.7

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

ENSP00000347890

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.

Experimentally validated
Total	116 [view]
Protein-Protein	116 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005515	protein binding
GO:0005525	GTP binding
GO:0008017	microtubule binding
GO:0019899	enzyme binding

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0006184	GTP catabolic process
GO:0006355	regulation of transcription, DNA-templated
GO:0006892	post-Golgi vesicle-mediated transport
GO:0006897	endocytosis
GO:0007165	signal transduction
GO:0008219	cell death
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0031623	receptor internalization
GO:0033572	transferrin transport
GO:0043065	positive regulation of apoptotic process
GO:0044281	small molecule metabolic process
GO:0045893	positive regulation of transcription, DNA-templated
GO:0046209	nitric oxide metabolic process
GO:0048489	synaptic vesicle transport
GO:0050999	regulation of nitric-oxide synthase activity
GO:0061024	membrane organization

Cellular Component

GO:0000139	Golgi membrane
GO:0005737	cytoplasm
GO:0005794	Golgi apparatus
GO:0005829	cytosol
GO:0005874	microtubule
GO:0005886	plasma membrane
GO:0014069	postsynaptic density
GO:0030054	cell junction
GO:0030496	midbody
GO:0030666	endocytic vesicle membrane
GO:0045211	postsynaptic membrane
GO:0070062	extracellular vesicular exosome

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