LOCUS       NM_001005361            3633 bp    mRNA    linear   PRI 05-MAR-2025
DEFINITION  Homo sapiens dynamin 2 (DNM2), transcript variant 2, mRNA.
ACCESSION   NM_001005361
VERSION     NM_001005361.3
KEYWORDS    RefSeq; MANE Select.
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 3633)
  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 3633)
  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 3633)
  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 3633)
  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 3633)
  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 3633)
  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 3633)
  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 3633)
  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 3633)
  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 3633)
  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, BC039596.1 and AK097875.1.
            
            On Dec 4, 2019 this sequence version replaced NM_001005361.2.
            
            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 (2) lacks an alternate in-frame
            exon and includes an alternate in-frame exon, compared to variant
            1. The resulting protein (isoform 2) is the same length as isoform
            1 but differs in an internal region, 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##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389253.9/ ENSP00000373905.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-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
            1145-1360           BC039596.1         1061-1276
            1361-3633           AK097875.1         22-2294
FEATURES             Location/Qualifiers
     source          1..3633
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..3633
                     /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..2777
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /EC_number="3.6.5.5"
                     /note="isoform 2 is encoded by transcript variant 2;
                     dynamin II"
                     /codon_start=1
                     /product="dynamin-2 isoform 2"
                     /protein_id="NP_001005361.1"
                     /db_xref="CCDS:CCDS45969.1"
                     /db_xref="GeneID:1785"
                     /db_xref="HGNC:HGNC:2974"
                     /db_xref="MIM:602378"
                     /translation="MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGK
                     SSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKKFTDFDEVRQEIE
                     AETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMI
                     LQFISRESSLILAVTPANMDLANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARD
                     VLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMADRMGTPH
                     LQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQMVQ
                     QFGVDFEKRIEGSGDQVDTLELSGGARINRIFHERFPFELVKMEFDEKDLRREISYAI
                     KNIHGVRTGLFTPDMAFEAIVKKQIVKLKEPSLKCVDLVVSELATVIKKCAEKLSSYP
                     RLREETERIVTTYIREREGRTKDQILLLIDIEQSYINTNHEDFIGFANAQQRSTQLNK
                     KRAIPNQGEILVIRRGWLTINNISLMKGGSKEYWFVLTAESLSWYKDEEEKEKKYMLP
                     LDNLKIRDVEKGFMSNKHVFAIFNTEQRNVYKDLRQIELACDSQEDVDSWKASFLRAG
                     VYPEKDQAENEDGAQENTFSMDPQLERQVETIRNLVDSYVAIINKSIRDLMPKTIMHL
                     MINNTKAFIHHELLAYLYSSADQSSLMEESADQAQRRDDMLRMYHALKEALNIIGDIS
                     TSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSSIHPPGRPPAVRGPTPGPPLIPVPV
                     GAAASFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPS
                     RPTIIRPAEPSLLD"
     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..1721
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1722..1835
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1836..1945
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            1946..2057
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            2058..2222
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            2223..2455
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            2456..2707
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     exon            2708..3633
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3610..3615
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2;
                     DYNII; LCCS5"
                     /note="hexamer: AATAAA"
     polyA_site      3633
                     /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 gacggggctc ttcacccccg
     1381 acatggcctt tgaagccatt gtgaaaaaac agattgtaaa actcaaagag ccgagtttga
     1441 agtgtgttga tctcgtggtc tcagagctgg ccacggtcat aaaaaagtgt gccgagaagc
     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 gggagatcct ggtgatccgc aggggctggc
     1741 tgaccatcaa caacatcagc ctgatgaaag gcggctccaa ggagtactgg tttgtgctga
     1801 ctgccgagtc actgtcctgg tacaaggatg aggaggagaa agagaagaag tacatgctgc
     1861 ctctggacaa cctcaagatc cgtgatgtgg agaagggctt catgtccaac aagcacgtct
     1921 tcgccatctt caacacggag cagagaaacg tctacaagga cctgcggcag atcgagctgg
     1981 cctgtgactc ccaggaagac gtggacagct ggaaggcctc gttcctccga gctggcgtct
     2041 accccgagaa ggaccaggca gaaaacgagg atggggccca ggagaacacc ttctccatgg
     2101 acccccaact ggagcggcag gtggagacca ttcgcaacct ggtggactca tacgtggcca
     2161 tcatcaacaa gtccatccgc gacctcatgc caaagaccat catgcacctc atgatcaaca
     2221 atacgaaggc cttcatccac cacgagctgc tggcctacct atactcctcg gcagaccaga
     2281 gcagcctcat ggaggagtcg gctgaccagg cacagcggcg ggacgacatg ctgcgcatgt
     2341 accatgccct caaggaggcg ctcaacatca tcggtgacat cagcaccagc actgtgtcca
     2401 cgcctgtacc cccgcctgtc gatgacacct ggctccagag cgccagcagc cacagcccca
     2461 ctccacagcg ccgaccggtg tccagcatac acccccctgg ccggccccca gcagtgaggg
     2521 gccccactcc agggcccccc ctgattcctg ttcccgtggg ggcagcagcc tccttctcgg
     2581 cgcccccaat cccatcccgg cctggacccc agagcgtgtt tgccaacagt gacctcttcc
     2641 cagccccgcc tcagatccca tctcggccag ttcggatccc cccagggatt cccccaggag
     2701 tgcccagcag aagaccccct gctgcgccca gccggcccac cattatccgc ccagccgagc
     2761 catccctgct cgactaggcc tcgagggggg cgtgctctcg ggggggcctc acgcacccgc
     2821 ggcgcaggag cttcagtggt ctggggccct ccgccgcccc tatgctggga ccaggctccc
     2881 agtgggcagc cctggcctct tccttaacgc tggccccggt ccagggccgg cccctgtgcc
     2941 tggctggaca ccgcactgcg caaaggggcc ctggagctcc aggcaggggg cgctggggtg
     3001 ttgcactttg ggggatggag tctcagggtg gcagaggggg gaccagaacc cttgacacca
     3061 tcctgaatga ggggtccagc ctggggggga ctctaccaag gtcttcttgg gctgggaaag
     3121 cccatgtagg gcaggccttc tataagtgcg ggcaccaagg gcgcctacat ccccaggcct
     3181 tgctggggtg caggggtata tcaacttccc attagcagga gctccccagc ggcaagcctg
     3241 gcccagtggg ctcggtagtg cccagctggc aggcctgagg tgtacatagt ccttcccggc
     3301 catattaacc acacagcctg agcctggccc agcctcggct gccagaggtg cctttgctag
     3361 gcccggagcc gttggcccgg gccggccttg ccctattcct ctcctcctcc tcctcctggg
     3421 tcccccaggg tggctgggct tgggctatgt gggtggtggt ggcggggggt cttgggggcc
     3481 tctcagctcc cgcccatgcc tccctgatgg gtgggcccag ggcggcctct ctctgaggag
     3541 acctcaccca ctcctcgctc agtttgacca ctgtaagtgc ctgcactctg tattctatta
     3601 ataaactaaa ataaagggaa gacgctgctg gtg
//
