LOCUS       NM_004945               3621 bp    mRNA    linear   PRI 05-MAR-2025
DEFINITION  Homo sapiens dynamin 2 (DNM2), transcript variant 3, mRNA.
ACCESSION   NM_004945
VERSION     NM_004945.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3621)
  AUTHORS   Bayones,L., Guerra-Fernandez,M.J., Figueroa-Cares,C., Gallo,L.I.,
            Alfonso-Bueno,S., Caspe,O., Canal,M.P., Baez-Matus,X.,
            Gonzalez-Jamett,A., Cardenas,A.M. and Marengo,F.D.
  TITLE     Dynamin-2 mutations linked to neonatal-onset centronuclear myopathy
            impair exocytosis and endocytosis in adrenal chromaffin cells
  JOURNAL   J Neurochem 168 (9), 3268-3283 (2024)
   PUBMED   39126680
  REMARK    GeneRIF: Dynamin-2 mutations linked to neonatal-onset centronuclear
            myopathy impair exocytosis and endocytosis in adrenal chromaffin
            cells.
REFERENCE   2  (bases 1 to 3621)
  AUTHORS   Perdreau-Dahl,H., Lipsett,D.B., Frisk,M., Kermani,F., Carlson,C.R.,
            Brech,A., Shen,X., Bergan-Dahl,A., Hou,Y., Tuomainen,T., Tavi,P.,
            Jones,P.P., Lunde,M., Wasserstrom,J.A., Laporte,J., Ullrich,N.D.,
            Christensen,G., Morth,J.P. and Louch,W.E.
  TITLE     BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in
            Cardiomyocytes
  JOURNAL   Circ Res 132 (11), e188-e205 (2023)
   PUBMED   37139790
  REMARK    GeneRIF: BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule
            Growth in Cardiomyocytes.
REFERENCE   3  (bases 1 to 3621)
  AUTHORS   Sobh,M., Aref,S., Al Agdar,M., El Zafrany,M. and El-Sokkary,A.M.A.
  TITLE     Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute
            Lymphoblastic Leukemia
  JOURNAL   Asian Pac J Cancer Prev 24 (4), 1257-1264 (2023)
   PUBMED   37116148
  REMARK    GeneRIF: Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell
            Acute Lymphoblastic Leukemia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3621)
  AUTHORS   Laiman,J., Hsu,Y.J., Loh,J., Tang,W.C., Chuang,M.C., Liu,H.K.,
            Yang,W.S., Chen,B.C., Chuang,L.M., Chang,Y.C. and Liu,Y.W.
  TITLE     GSK3alpha phosphorylates dynamin-2 to promote GLUT4 endocytosis in
            muscle cells
  JOURNAL   J Cell Biol 222 (2) (2023)
   PUBMED   36445308
REFERENCE   5  (bases 1 to 3621)
  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   6  (bases 1 to 3621)
  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   7  (bases 1 to 3621)
  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   8  (bases 1 to 3621)
  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
REFERENCE   9  (bases 1 to 3621)
  AUTHORS   Zuchner,S. and Tao,F.
  TITLE     DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20614582
REFERENCE   10 (bases 1 to 3621)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011475.6, AC011552.6,
            AC112707.2, BC054501.1 and BU621654.1.
            
            On Aug 13, 2020 this sequence version replaced NM_004945.3.
            
            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. Five 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, Jun 2010].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon, compared to variant 1. The resulting protein (isoform 3) 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 Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L36983.1, BC054501.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-325               AC011475.6         9523-9847           c
            326-399             AC011552.6         32787-32860
            400-549             AC112707.2         12736-12885
            550-753             AC112707.2         15960-16163
            754-852             AC112707.2         17375-17473
            853-1013            AC112707.2         23217-23377
            1014-1144           AC112707.2         26821-26951
            1145-3589           BC054501.1         1131-3575
            3590-3621           BU621654.1         26-57               c
FEATURES             Location/Qualifiers
     source          1..3621
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..3621
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /note="dynamin 2"
                     /db_xref="GeneID:1785"
                     /db_xref="HGNC:HGNC:2974"
                     /db_xref="MIM:602378"
     exon            1..325
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     CDS             165..2765
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /EC_number="3.6.5.5"
                     /note="isoform 3 is encoded by transcript variant 3;
                     dynamin II"
                     /codon_start=1
                     /product="dynamin-2 isoform 3"
                     /protein_id="NP_004936.2"
                     /db_xref="CCDS:CCDS32907.1"
                     /db_xref="GeneID:1785"
                     /db_xref="HGNC:HGNC:2974"
                     /db_xref="MIM:602378"
                     /translation="MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGK
                     SSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKKFTDFDEVRQEIE
                     AETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMI
                     LQFISRESSLILAVTPANMDLANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARD
                     VLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMADRMGTPH
                     LQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQMVQ
                     QFGVDFEKRIEGSGDQVDTLELSGGARINRIFHERFPFELVKMEFDEKDLRREISYAI
                     KNIHGVRTGLFTPDLAFEAIVKKQVVKLKEPCLKCVDLVIQELINTVRQCTSKLSSYP
                     RLREETERIVTTYIREREGRTKDQILLLIDIEQSYINTNHEDFIGFANAQQRSTQLNK
                     KRAIPNQVIRRGWLTINNISLMKGGSKEYWFVLTAESLSWYKDEEEKEKKYMLPLDNL
                     KIRDVEKGFMSNKHVFAIFNTEQRNVYKDLRQIELACDSQEDVDSWKASFLRAGVYPE
                     KDQAENEDGAQENTFSMDPQLERQVETIRNLVDSYVAIINKSIRDLMPKTIMHLMINN
                     TKAFIHHELLAYLYSSADQSSLMEESADQAQRRDDMLRMYHALKEALNIIGDISTSTV
                     STPVPPPVDDTWLQSASSHSPTPQRRPVSSIHPPGRPPAVRGPTPGPPLIPVPVGAAA
                     SFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPSRPTI
                     IRPAEPSLLD"
     exon            326..399
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            400..549
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            550..753
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            754..852
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            853..1013
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1156
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1292
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1293..1360
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1361..1499
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..1586
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1587..1657
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1658..1709
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1710..1823
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1824..1933
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1934..2045
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..2210
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            2211..2443
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            2444..2695
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            2696..3621
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3598..3603
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /note="hexamer: AATAAA"
     polyA_site      3621
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /note="major polyA site"
ORIGIN      
        1 gagaaccgga tgaggcggcg accgtgaggc cgagccggga gcgggcgtct tgccgaggcc
       61 cgggcgggcg gggagcaacg gctacagacg ccgcggggcc aggtcgttga gggtcggcgg
      121 cgggcgagga gcgcagggcg ctcgggccgg gggccgccgg cgccatgggc aaccgcggga
      181 tggaagagct gatcccgctg gtcaacaaac tgcaggacgc cttcagctcc atcggccaga
      241 gctgccacct ggacctgccg cagatcgctg tagtgggcgg ccagagcgcc ggcaagagct
      301 cggtgctgga gaacttcgtg ggccgggact tccttccccg cggttcagga atcgtcaccc
      361 ggcggcctct cattctgcag ctcatcttct caaaaacaga acatgccgag tttttgcact
      421 gcaagtccaa aaagtttaca gactttgatg aagtccggca ggagattgaa gcagagaccg
      481 acagggtcac ggggaccaac aaaggcatct ccccagtgcc catcaacctt cgagtctact
      541 cgccacacgt gttgaacttg accctcatcg acctcccggg tatcaccaag gtgcctgtgg
      601 gcgaccagcc tccagacatc gagtaccaga tcaaggacat gatcctgcag ttcatcagcc
      661 gggagagcag cctcattctg gctgtcacgc ccgccaacat ggacctggcc aactccgacg
      721 ccctcaagct ggccaaggaa gtcgatcccc aaggcctacg gaccatcggt gtcatcacca
      781 agcttgacct gatggacgag ggcaccgacg ccagggacgt cttggagaac aagttgctcc
      841 cgttgagaag aggctacatt ggcgtggtga accgcagcca gaaggatatt gagggcaaga
      901 aggacatccg tgcagcactg gcagctgaga ggaagttctt cctctcccac ccggcctacc
      961 ggcacatggc cgaccgcatg ggcacgccac atctgcagaa gacgctgaat cagcaactga
     1021 ccaaccacat ccgggagtcg ctgccggccc tacgtagcaa actacagagc cagctgctgt
     1081 ccctggagaa ggaggtggag gagtacaaga actttcggcc cgacgacccc acccgcaaaa
     1141 ccaaagccct gctgcagatg gtccagcagt ttggggtgga ttttgagaag aggatcgagg
     1201 gctcaggaga tcaggtggac actctggagc tctccggggg cgcccgaatc aatcgcatct
     1261 tccacgagcg gttcccattt gagctggtga agatggagtt tgacgagaag gacttacgac
     1321 gggagatcag ctatgccatt aagaacatcc atggagtcag gaccgggctt ttcaccccgg
     1381 acttggcatt cgaggccatt gtgaaaaagc aggtcgtcaa gctgaaagag ccctgtctga
     1441 aatgtgtcga cctggttatc caggagctaa tcaatacagt taggcagtgt accagtaagc
     1501 tcagttccta cccccggttg cgagaggaga cagagcgaat cgtcaccact tacatccggg
     1561 aacgggaggg gagaacgaag gaccagattc ttctgctgat cgacattgag cagtcctaca
     1621 tcaacacgaa ccatgaggac ttcatcgggt ttgccaatgc ccagcagagg agcacgcagc
     1681 tgaacaagaa gagagccatc cccaatcagg tgatccgcag gggctggctg accatcaaca
     1741 acatcagcct gatgaaaggc ggctccaagg agtactggtt tgtgctgact gccgagtcac
     1801 tgtcctggta caaggatgag gaggagaaag agaagaagta catgctgcct ctggacaacc
     1861 tcaagatccg tgatgtggag aagggcttca tgtccaacaa gcacgtcttc gccatcttca
     1921 acacggagca gagaaacgtc tacaaggacc tgcggcagat cgagctggcc tgtgactccc
     1981 aggaagacgt ggacagctgg aaggcctcgt tcctccgagc tggcgtctac cccgagaagg
     2041 accaggcaga aaacgaggat ggggcccagg agaacacctt ctccatggac ccccaactgg
     2101 agcggcaggt ggagaccatt cgcaacctgg tggactcata cgtggccatc atcaacaagt
     2161 ccatccgcga cctcatgcca aagaccatca tgcacctcat gatcaacaat acgaaggcct
     2221 tcatccacca cgagctgctg gcctacctat actcctcggc agaccagagc agcctcatgg
     2281 aggagtcggc tgaccaggca cagcggcggg acgacatgct gcgcatgtac catgccctca
     2341 aggaggcgct caacatcatc ggtgacatca gcaccagcac tgtgtccacg cctgtacccc
     2401 cgcctgtcga tgacacctgg ctccagagcg ccagcagcca cagccccact ccacagcgcc
     2461 gaccggtgtc cagcatacac ccccctggcc ggcccccagc agtgaggggc cccactccag
     2521 ggccccccct gattcctgtt cccgtggggg cagcagcctc cttctcggcg cccccaatcc
     2581 catcccggcc tggaccccag agcgtgtttg ccaacagtga cctcttccca gccccgcctc
     2641 agatcccatc tcggccagtt cggatccccc cagggattcc cccaggagtg cccagcagaa
     2701 gaccccctgc tgcgcccagc cggcccacca ttatccgccc agccgagcca tccctgctcg
     2761 actaggcctc gaggggggcg tgctctcggg ggggcctcac gcacccgcgg cgcaggagct
     2821 tcagtggtct ggggccctcc gccgccccta tgctgggacc aggctcccag tgggcagccc
     2881 tggcctcttc cttaacgctg gccccggtcc agggccggcc cctgtgcctg gctggacacc
     2941 gcactgcgca aaggggccct ggagctccag gcagggggcg ctggggtgtt gcactttggg
     3001 ggatggagtc tcagggtggc agagggggga ccagaaccct tgacaccatc ctgaatgagg
     3061 ggtccagcct gggggggact ctaccaaggt cttcttgggc tgggaaagcc catgtagggc
     3121 aggccttcta taagtgcggg caccaagggc gcctacatcc ccaggccttg ctggggtgca
     3181 ggggtatatc aacttcccat tagcaggagc tccccagcgg caagcctggc ccagtgggct
     3241 cggtagtgcc cagctggcag gcctgaggtg tacatagtcc ttcccggcca tattaaccac
     3301 acagcctgag cctggcccag cctcggctgc cagaggtgcc tttgctaggc ccggagccgt
     3361 tggcccgggc cggccttgcc ctattcctct cctcctcctc ctcctgggtc ccccagggtg
     3421 gctgggcttg ggctatgtgg gtggtggtgg cggggggtct tgggggcctc tcagctcccg
     3481 cccatgcctc cctgatgggt gggcccaggg cggcctctct ctgaggagac ctcacccact
     3541 cctcgctcag tttgaccact gtaagtgcct gcactctgta ttctattaat aaactaaaat
     3601 aaagggaaga cgctgctggt g
//
