LOCUS NP_001005362 866 aa linear PRI 25-OCT-2008
DEFINITION dynamin 2 isoform 4 [Homo sapiens].
ACCESSION NP_001005362
VERSION NP_001005362.1 GI:56549125
DBSOURCE REFSEQ: accession NM_001005362.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 866)
AUTHORS Patterson,E.E., Minor,K.M., Tchernatynskaia,A.V., Taylor,S.M.,
Shelton,G.D., Ekenstedt,K.J. and Mickelson,J.R.
TITLE A canine DNM1 mutation is highly associated with the syndrome of
exercise-induced collapse
JOURNAL Nat. Genet. 40 (10), 1235-1239 (2008)
PUBMED 18806795
REFERENCE 2 (residues 1 to 866)
AUTHORS Bitoun,M., Stojkovic,T., Prudhon,B., Maurage,C.A., Latour,P.,
Vermersch,P. and Guicheney,P.
TITLE A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth
type 2 patient: clinical and pathological findings
JOURNAL Neuromuscul. Disord. 18 (4), 334-338 (2008)
PUBMED 18394888
REMARK GeneRIF: we report a novel DNM2 mutation in the Pleckstrin homology
domain of DNM2 (p.K559del) in a patient with an axonal
length-dependent sensorimotor polyneuropathy predominantly
affecting the lower limbs.
REFERENCE 3 (residues 1 to 866)
AUTHORS Aidaralieva,N.J., Kamino,K., Kimura,R., Yamamoto,M., Morihara,T.,
Kazui,H., Hashimoto,R., Tanaka,T., Kudo,T., Kida,T., Okuda,J.,
Uema,T., Yamagata,H., Miki,T., Akatsu,H., Kosaka,K. and Takeda,M.
TITLE Dynamin 2 gene is a novel susceptibility gene for late-onset
Alzheimer disease in non-APOE-epsilon4 carriers
JOURNAL J. Hum. Genet. 53 (4), 296-302 (2008)
PUBMED 18236001
REMARK GeneRIF: Dynamin 2 gene is a novel susceptibility gene for
late-onset Alzheimer disease in non-APOE-epsilon4 carriers.
GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (residues 1 to 866)
AUTHORS Cao,H., Chen,J., Awoniyi,M., Henley,J.R. and McNiven,M.A.
TITLE Dynamin 2 mediates fluid-phase micropinocytosis in epithelial cells
JOURNAL J. Cell. Sci. 120 (PT 23), 4167-4177 (2007)
PUBMED 18003703
REMARK GeneRIF: DNM2 mediates fluid-phase micropinocytosis in epithelial
cells.
REFERENCE 5 (residues 1 to 866)
AUTHORS 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. and Guicheney,P.
TITLE Dynamin 2 mutations cause sporadic centronuclear myopathy with
neonatal onset
JOURNAL Ann. Neurol. 62 (6), 666-670 (2007)
PUBMED 17932957
REMARK GeneRIF: Four heterozygous dynamin 2 (DNM2) mutations in five
centronuclear myopathy patients aged 1 to 15 years.
REFERENCE 6 (sites)
AUTHORS Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
TITLE Large-scale characterization of HeLa cell nuclear phosphoproteins
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (33), 12130-12135 (2004)
PUBMED 15302935
REFERENCE 7 (residues 1 to 866)
AUTHORS Fish,K.N., Schmid,S.L. and Damke,H.
TITLE Evidence that dynamin-2 functions as a signal-transducing GTPase
JOURNAL J. Cell Biol. 150 (1), 145-154 (2000)
PUBMED 10893263
REFERENCE 8 (residues 1 to 866)
AUTHORS Vila-Coro,A.J., Mellado,M., Martin de Ana,A., Martinez-A,C. and
Rodriguez-Frade,J.M.
TITLE Characterization of RANTES- and aminooxypentane-RANTES-triggered
desensitization signals reveals differences in recruitment of the G
protein-coupled receptor complex
JOURNAL J. Immunol. 163 (6), 3037-3044 (1999)
PUBMED 10477567
REFERENCE 9 (residues 1 to 866)
AUTHORS Kasai,K., Shin,H.W., Shinotsuka,C., Murakami,K. and Nakayama,K.
TITLE Dynamin II is involved in endocytosis but not in the formation of
transport vesicles from the trans-Golgi network
JOURNAL J. Biochem. 125 (4), 780-789 (1999)
PUBMED 10101292
REFERENCE 10 (residues 1 to 866)
AUTHORS Klocke,R., Augustin,A., Ronsiek,M., Stief,A., van der Putten,H. and
Jockusch,H.
TITLE Dynamin genes Dnm1 and Dnm2 are located on proximal mouse
chromosomes 2 and 9, respectively
JOURNAL Genomics 41 (2), 290-292 (1997)
PUBMED 9143510
REFERENCE 11 (residues 1 to 866)
AUTHORS Diatloff-Zito,C., Gordon,A.J., Duchaud,E. and Merlin,G.
TITLE Isolation of an ubiquitously expressed cDNA encoding human dynamin
II, a member of the large GTP-binding protein family
JOURNAL Gene 163 (2), 301-306 (1995)
PUBMED 7590285
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BM148999.1, BC054501.1,
BC039596.1 and AK097875.1.
Summary: 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. Four 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].
Transcript Variant: This variant (4) lacks two alternate in-frame
exons and includes an alternate in-frame exon, compared to variant
1. The resulting protein (isoform 4) is shorter, compared to
isoform 1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..866
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="19"
/map="19p13.2"
Protein 1..866
/product="dynamin 2 isoform 4"
/EC_number="3.6.5.5"
/note="dynamin II"
/calculated_mol_wt=97423
Site 762
/site_type="phosphorylation"
/experiment="experimental evidence, no additional details
recorded"
/citation=[6]
CDS 1..866
/gene="DNM2"
/gene_synonym="DYN2"
/gene_synonym="DYNII"
/gene_synonym="CMTDI1"
/gene_synonym="CMTDIB"
/gene_synonym="DI-CMTB"
/coded_by="NM_001005362.1:165..2765"
/note="isoform 4 is encoded by transcript variant 4"
/db_xref="CCDS:CCDS32908.1"
/db_xref="GeneID:1785"
/db_xref="HGNC:2974"
/db_xref="HPRD:03852"
/db_xref="MIM:602378"
ORIGIN
1 mgnrgmeeli plvnklqdaf ssigqschld lpqiavvggq sagkssvlen fvgrdflprg
61 sgivtrrpli lqlifskteh aeflhckskk ftdfdevrqe ieaetdrvtg tnkgispvpi
121 nlrvysphvl nltlidlpgi tkvpvgdqpp dieyqikdmi lqfisressl ilavtpanmd
181 lansdalkla kevdpqglrt igvitkldlm degtdardvl enkllplrrg yigvvnrsqk
241 diegkkdira alaaerkffl shpayrhmad rmgtphlqkt lnqqltnhir eslpalrskl
301 qsqllsleke veeyknfrpd dptrktkall qmvqqfgvdf ekriegsgdq vdtlelsgga
361 rinrifherf pfelvkmefd ekdlrreisy aiknihgvrt glftpdmafe aivkkqivkl
421 kepslkcvdl vvselatvik kcaeklssyp rlreeteriv ttyireregr tkdqilllid
481 ieqsyintnh edfigfanaq qrstqlnkkr aipnqvirrg wltinnislm kggskeywfv
541 ltaeslswyk deeekekkym lpldnlkird vekgfmsnkh vfaifnteqr nvykdlrqie
601 lacdsqedvd swkasflrag vypekdqaen edgaqentfs mdpqlerqve tirnlvdsyv
661 aiinksirdl mpktimhlmi nntkafihhe llaylyssad qsslmeesad qaqrrddmlr
721 myhalkealn iigdiststv stpvpppvdd twlqsasshs ptpqrrpvss ihppgrppav
781 rgptpgppli pvpvgaaasf sappipsrpg pqsvfansdl fpappqipsr pvrippgipp
841 gvpsrrppaa psrptiirpa epslld
//