[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
DOI=10.1016/0378-1119(95)00275-B; PubMed=7590285 [NCBI, ExPASy, EBI, Israel, Japan]
Diatloff-Zito C.,
Gordon A.J.E.,
Duchaud E.,
Merlin G.;
"Isolation of an ubiquitously expressed cDNA encoding human dynamin II, a member of the large GTP-binding protein family.";
Gene 163:301-306(1995).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02399; PubMed=15057824 [NCBI, ExPASy, EBI, Israel, Japan]
Grimwood J.,
Gordon L.A.,
Olsen A.S.,
Terry A.,
Schmutz J.,
Lamerdin J.E.,
Hellsten U.,
Goodstein D.,
Couronne O.,
Tran-Gyamfi M.,
Aerts A.,
Altherr M.,
Ashworth L.,
Bajorek E.,
Black S.,
Branscomb E.,
Caenepeel S.,
Carrano A.V.,
Caoile C., ![]()
Chan Y.M.,
Christensen M.,
Cleland C.A.,
Copeland A.,
Dalin E.,
Dehal P.,
Denys M.,
Detter J.C.,
Escobar J.,
Flowers D.,
Fotopulos D.,
Garcia C.,
Georgescu A.M.,
Glavina T.,
Gomez M.,
Gonzales E.,
Groza M.,
Hammon N.,
Hawkins T.,
Haydu L.,
Ho I.,
Huang W.,
Israni S.,
Jett J.,
Kadner K.,
Kimball H.,
Kobayashi A.,
Larionov V.,
Leem S.-H.,
Lopez F.,
Lou Y.,
Lowry S.,
Malfatti S.,
Martinez D.,
McCready P.M.,
Medina C.,
Morgan J.,
Nelson K.,
Nolan M.,
Ovcharenko I.,
Pitluck S.,
Pollard M.,
Popkie A.P.,
Predki P.,
Quan G.,
Ramirez L.,
Rash S.,
Retterer J.,
Rodriguez A.,
Rogers S.,
Salamov A.,
Salazar A.,
She X.,
Smith D.,
Slezak T.,
Solovyev V.,
Thayer N.,
Tice H.,
Tsai M.,
Ustaszewska A.,
Vo N.,
Wagner M.,
Wheeler J.,
Wu K.,
Xie G.,
Yang J.,
Dubchak I.,
Furey T.S.,
DeJong P.,
Dickson M.,
Gordon D.,
Eichler E.E.,
Pennacchio L.A.,
Richardson P.,
Stubbs L.,
Rokhsar D.S.,
Myers R.M.,
Rubin E.M.,
Lucas S.M.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Ovary, and Uterus;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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INTERACTION WITH SHANK PROTEINS.
DOI=10.1074/jbc.M104927200; PubMed=11583995 [NCBI, ExPASy, EBI, Israel, Japan]
Okamoto P.M.,
Gamby C.,
Wells D.,
Fallon J.,
Vallee R.B.;
"Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton.";
J. Biol. Chem. 276:48458-48465(2001).
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[5]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-766, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1073/pnas.0404720101; PubMed=15302935 [NCBI, ExPASy, EBI, Israel, Japan]
Beausoleil S.A.,
Jedrychowski M.,
Schwartz D.,
Elias J.E.,
Villen J.,
Li J.,
Cohn M.A.,
Cantley L.C.,
Gygi S.P.;
"Large-scale characterization of HeLa cell nuclear phosphoproteins.";
Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004).
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[6]
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INTERACTION WITH SH3BP4.
DOI=10.1016/j.cell.2005.10.021; PubMed=16325581 [NCBI, ExPASy, EBI, Israel, Japan]
Tosoni D.,
Puri C.,
Confalonieri S.,
Salcini A.E.,
De Camilli P.,
Tacchetti C.,
Di Fiore P.P.;
"TTP specifically regulates the internalization of the transferrin receptor.";
Cell 123:875-888(2005).
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[7]
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INTERACTION WITH NOSTRIN.
DOI=10.1242/jcs.02620; PubMed=16234328 [NCBI, ExPASy, EBI, Israel, Japan]
Icking A.,
Matt S.,
Opitz N.,
Wiesenthal A.,
Mueller-Esterl W.,
Schilling K.;
"NOSTRIN functions as a homotrimeric adaptor protein facilitating internalization of eNOS.";
J. Cell Sci. 118:5059-5069(2005).
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[8]
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VARIANTS CMTDIB 555-ASP--GLU-557 DEL AND GLU-562, AND CHARACTERIZATION OF VARIANT CMTDIB 555-ASP--GLU-557 DEL.
DOI=10.1038/ng1514; PubMed=15731758 [NCBI, ExPASy, EBI, Israel, Japan]
Zuechner S.,
Noureddine M.,
Kennerson M.,
Verhoeven K.,
Claeys K.,
De Jonghe P.,
Merory J.,
Oliveira S.A.,
Speer M.C.,
Stenger J.E.,
Walizada G.,
Zhu D.,
Pericak-Vance M.A.,
Nicholson G.,
Timmerman V.,
Vance J.M.;
"Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.";
Nat. Genet. 37:289-294(2005).
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[9]
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VARIANTS ADCNM LYS-368; TRP-369; GLN-369 AND TRP-465, AND CHARACTERIZATION OF VARIANTS ADCNM TRP-369 AND TRP-465.
DOI=10.1038/ng1657; PubMed=16227997 [NCBI, ExPASy, EBI, Israel, Japan]
Bitoun M.,
Maugenre S.,
Jeannet P.-Y.,
Lacene E.,
Ferrer X.,
Laforet P.,
Martin J.-J.,
Laporte J.,
Lochmueller H.,
Beggs A.H.,
Fardeau M.,
Eymard B.,
Romero N.B.,
Guicheney P.;
"Mutations in dynamin 2 cause dominant centronuclear myopathy.";
Nat. Genet. 37:1207-1209(2005).
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[10]
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VARIANTS ADCNM THR-618; LEU-619; TRP-619 AND VAL-625 DEL.
DOI=10.1002/ana.21235; PubMed=17932957 [NCBI, ExPASy, EBI, Israel, Japan]
Bitoun M.,
Bevilacqua J.A.,
Prudhon B.,
Maugenre S.,
Taratuto A.L.,
Monges S.,
Lubieniecki F.,
Cances C.,
Uro-Coste E.,
Mayer M.,
Fardeau M.,
Romero N.B.,
Guicheney P.;
"Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.";
Ann. Neurol. 62:666-670(2007).
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- 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.
- CATALYTIC ACTIVITY: GTP + H2O = GDP + phosphate.
- SUBUNIT: Interacts with SHANK1, SHANK2, SH3BP4 and NOSTRIN.
- INTERACTION:
Q96RU3:FNBP1; NbExp=1; IntAct=EBI-346547, EBI-1111248;
P08631:HCK; NbExp=1; IntAct=EBI-346547, EBI-346340;
Q99547:MPHOSPH6; NbExp=1; IntAct=EBI-346547, EBI-373187;
- SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse. Note=Microtubule-associated. Also found in the postsynaptic density of neuronal cells.
- ALTERNATIVE PRODUCTS:
2 named isoforms [FASTA] produced by alternative splicing.
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| Name | 2 |
| Isoform ID | P50570-2 |
| Features which should be applied to build the isoform sequence: VSP_001325. |
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- TISSUE SPECIFICITY: Ubiquitously expressed.
- DISEASE: Defects in DNM2 are a cause of centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]; also known as autosomal dominant myotubular myopathy. Centronuclear myopathies (CNMs) are congenital muscle disorders 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. CNMs comprise a wide spectrum of phenotypes, ranging from severe neonatal to mild late-onset familial forms. 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.
- DISEASE: Defects in DNM2 are the cause of dominant intermediate Charcot-Marie-Tooth disease B (CMTDIB) [MIM:606482]. Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous 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. CMT neuropathy is subdivided into CMT1 and CMT2 types on the basis of electrophysiologic and neuropathologic criteria. CMT1 is a demyelinating neuropathy, whereas CMT2 is an axonal neuropathy. Most patients with CMT are classified as having CMT1 or CMT2 by use of a cut-off value of 38 m/s for the motor median nerve conduction velocity (NCV). However, in some families with CMT, patients have motor median NCVs ranging from 25 to 45 m/s. This form is designated intermediate CMT. Intermediate CMT is genetically heterogeneous.
- SIMILARITY: Belongs to the dynamin family.
- SIMILARITY: Contains 1 GED domain.
- SIMILARITY: Contains 1 PH domain.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=DNM2";.
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