LOCUS       NM_026879               1924 bp    mRNA    linear   ROD 12-JUN-2024
DEFINITION  Mus musculus charged multivesicular body protein 2B (Chmp2b), mRNA.
ACCESSION   NM_026879
VERSION     NM_026879.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1924)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1924)
  AUTHORS   Hermosilla Aguayo,V., Martin,P., Tian,N., Zheng,J., Aho,R., Losa,M.
            and Selleri,L.
  TITLE     ESCRT-dependent control of craniofacial morphogenesis with
            concomitant perturbation of NOTCH signaling
  JOURNAL   Dev Biol 503, 25-42 (2023)
   PUBMED   37573008
REFERENCE   3  (bases 1 to 1924)
  AUTHORS   Waegaert,R., Dirrig-Grosch,S., Liu,H., Boutry,M., Luan,P.,
            Loeffler,J.P. and Rene,F.
  TITLE     Alteration of the Neuromuscular Junction and Modifications of
            Muscle Metabolism in Response to Neuron-Restricted Expression of
            the CHMP2Bintron5 Mutant in a Mouse Model of ALS-FTD Syndrome
  JOURNAL   Biomolecules 12 (4), 497 (2022)
   PUBMED   35454086
  REMARK    GeneRIF: Alteration of the Neuromuscular Junction and Modifications
            of Muscle Metabolism in Response to Neuron-Restricted Expression of
            the CHMP2B(intron5) Mutant in a Mouse Model of ALS-FTD Syndrome.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1924)
  AUTHORS   Clayton,E.L., Bonnycastle,K., Isaacs,A.M., Cousin,M.A. and
            Schorge,S.
  TITLE     A novel synaptopathy-defective synaptic vesicle protein trafficking
            in the mutant CHMP2B mouse model of frontotemporal dementia
  JOURNAL   J Neurochem 160 (3), 412-425 (2022)
   PUBMED   34855215
  REMARK    GeneRIF: A novel synaptopathy-defective synaptic vesicle protein
            trafficking in the mutant CHMP2B mouse model of frontotemporal
            dementia.
REFERENCE   5  (bases 1 to 1924)
  AUTHORS   Jin,M., Jin,X., Homma,H., Fujita,K., Tanaka,H., Murayama,S.,
            Akatsu,H., Tagawa,K. and Okazawa,H.
  TITLE     Prediction and verification of the AD-FTLD common pathomechanism
            based on dynamic molecular network analysis
  JOURNAL   Commun Biol 4 (1), 961 (2021)
   PUBMED   34385591
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1924)
  AUTHORS   Ghazi-Noori,S., Froud,K.E., Mizielinska,S., Powell,C., Smidak,M.,
            Fernandez de Marco,M., O'Malley,C., Farmer,M., Parkinson,N.,
            Fisher,E.M., Asante,E.A., Brandner,S., Collinge,J. and Isaacs,A.M.
  TITLE     Progressive neuronal inclusion formation and axonal degeneration in
            CHMP2B mutant transgenic mice
  JOURNAL   Brain 135 (Pt 3), 819-832 (2012)
   PUBMED   22366797
  REMARK    GeneRIF: These data describe the first mouse model of dementia
            caused by CHMP2B mutation and provide new insights into the
            mechanisms of CHMP2B-induced neurodegeneration
REFERENCE   7  (bases 1 to 1924)
  AUTHORS   Xu,J., Nonogaki,M., Madhira,R., Ma,H.Y., Hermanson,O., Kioussi,C.
            and Gross,M.K.
  TITLE     Population-specific regulation of Chmp2b by Lbx1 during onset of
            synaptogenesis in lateral association interneurons
  JOURNAL   PLoS One 7 (12), e48573 (2012)
   PUBMED   23284619
  REMARK    GeneRIF: Chmp2b is one of the most highly regulated cell-autonomous
            targets of Lbx1 in the embryonic mouse neural tube
REFERENCE   8  (bases 1 to 1924)
  AUTHORS   Wollert,T., Wunder,C., Lippincott-Schwartz,J. and Hurley,J.H.
  TITLE     Membrane scission by the ESCRT-III complex
  JOURNAL   Nature 458 (7235), 172-177 (2009)
   PUBMED   19234443
REFERENCE   9  (bases 1 to 1924)
  AUTHORS   Azmi,I., Davies,B., Dimaano,C., Payne,J., Eckert,D., Babst,M. and
            Katzmann,D.J.
  TITLE     Recycling of ESCRTs by the AAA-ATPase Vps4 is regulated by a
            conserved VSL region in Vta1
  JOURNAL   J Cell Biol 172 (5), 705-717 (2006)
   PUBMED   16505166
REFERENCE   10 (bases 1 to 1924)
  AUTHORS   Skibinski,G., Parkinson,N.J., Brown,J.M., Chakrabarti,L.,
            Lloyd,S.L., Hummerich,H., Nielsen,J.E., Hodges,J.R.,
            Spillantini,M.G., Thusgaard,T., Brandner,S., Brun,A., Rossor,M.N.,
            Gade,A., Johannsen,P., Sorensen,S.A., Gydesen,S., Fisher,E.M. and
            Collinge,J.
  TITLE     Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in
            frontotemporal dementia
  JOURNAL   Nat Genet 37 (8), 806-808 (2005)
   PUBMED   16041373
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CT009578.7, AK084111.1 and BC055809.1.
            
            On Apr 20, 2018 this sequence version replaced NM_026879.2.
            
            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 :: BC055809.1, AK084111.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164131, SAMN01164137
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                CT009578.7         34877-34941         c
            66-1903             AK084111.1         3-1840
            1904-1924           BC055809.1         1868-1888
FEATURES             Location/Qualifiers
     source          1..1924
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="16"
                     /map="16 37.26 cM"
     gene            1..1924
                     /gene="Chmp2b"
                     /gene_synonym="1190006E07Rik"
                     /note="charged multivesicular body protein 2B"
                     /db_xref="GeneID:68942"
                     /db_xref="MGI:MGI:1916192"
     exon            1..288
                     /gene="Chmp2b"
                     /gene_synonym="1190006E07Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             255..896
                     /gene="Chmp2b"
                     /gene_synonym="1190006E07Rik"
                     /note="chromatin modifying protein 2B"
                     /codon_start=1
                     /product="charged multivesicular body protein 2b"
                     /protein_id="NP_081155.1"
                     /db_xref="CCDS:CCDS28269.1"
                     /db_xref="GeneID:68942"
                     /db_xref="MGI:MGI:1916192"
                     /translation="MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLEL
                     EIKKMAKIGNKEACRVLAKQLVHLRKQKTRTFAVSSKVTSMSTQTKVMNSQMKMAGAM
                     STTAKTMQAVNKKMDPQKTLQTMQNFQKENMKMEMTEEMINDTLDDIFDGSDDEEESQ
                     DIVNQVLDEIGIEISGKMAKAPSAARSLPSASTSKATISDEEIERQLKALGVD"
     exon            289..380
                     /gene="Chmp2b"
                     /gene_synonym="1190006E07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            381..575
                     /gene="Chmp2b"
                     /gene_synonym="1190006E07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            576..678
                     /gene="Chmp2b"
                     /gene_synonym="1190006E07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            679..785
                     /gene="Chmp2b"
                     /gene_synonym="1190006E07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            786..1908
                     /gene="Chmp2b"
                     /gene_synonym="1190006E07Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1885..1890
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Chmp2b"
                     /gene_synonym="1190006E07Rik"
                     /note="hexamer: AATAAA"
     polyA_site      1908
                     /gene="Chmp2b"
                     /gene_synonym="1190006E07Rik"
                     /note="major polyA site"
ORIGIN      
        1 gcagactgcg cacgcgccgc ctagaagtga cttctccaaa aaagtgtctt agttcccggt
       61 cacctgagca cccaggacgc gttctcggga gcctcgcgga gccacgcccg ccgcaggtcg
      121 agcttggaga ccccgtcctc ctcctcccgc cgctgccagg cttctccggg atccgtcctt
      181 ctaccggtcc tgttcccaga accgggccgg accgaaccgg gccgagctgg gccgcccggg
      241 cgcggccgct caccatggcc tccctcttca agaagaagac tgtggacgat gtcataaagg
      301 aacagaatcg agagctgcgt ggcacccaga gggccatcat cagggaccga gcagccttag
      361 agaaacagga gaaacagctg gagttagaaa ttaagaagat ggccaagatt ggtaataagg
      421 aagcgtgcag ggttttagct aagcagcttg tccacctacg gaaacagaag acaagaacgt
      481 tcgctgtaag ctcaaaagtc acctctatgt ccacacaaac gaaagtgatg aattcccaga
      541 tgaagatggc cggtgccatg tctaccactg caaagacaat gcaagcagtc aacaagaaaa
      601 tggatccaca gaagacacta caaacaatgc agaatttcca gaaggaaaac atgaaaatgg
      661 aaatgactga agaaatgatc aatgacaccc tggatgacat ctttgatggc tctgatgatg
      721 aagaagaaag ccaggacatc gtgaatcaag ttcttgatga aattgggatt gaaatctctg
      781 gaaagatggc caaagctcca tcggctgcaa gaagcttacc gtctgcctcc acttcaaagg
      841 ctacaatttc tgatgaagag attgaacgtc aactcaaagc tttaggggta gattagatca
      901 aaagccatac atactgttct cacttgagtc taaagtgagt ccggtgtaga ttccttttac
      961 aaaacacatt cattttgcaa aaatgaagac catgagtgaa cagttatttc ctgacccatg
     1021 gctactttga atcctttgcc aaagagtgcc aatgatgcaa aaaacaatgg gagcagtttg
     1081 gctcttaggt agaagcaccc tggtctgagg ggtgtgcaag ctgagttctt ttgtgcatgg
     1141 catagggaga cgacggtgtc actgcttagt gttgggttgg gttctaagtt gttttacact
     1201 gaaatcagac ttcatgttta atgccattag gcgtcaacgt aaagagactt gtaaaaatat
     1261 taaaggtata tcgttaattc tgtatctgtt gcttgtcctt tgtagacagt tatgttagga
     1321 ccataggcag tgcagctgcc aagttatttt taaaccatct aaaaggagag tgctatttaa
     1381 acatctgtct taaactgtcc tgagcttcta cttttcttcc atttaccccc tttgggagaa
     1441 cattctagtt ggtaagttta ttacctttca aaatgtgctt ggcacctgcc ttaaatagca
     1501 cgaacatatt gtgcacatct ttaaattaat ttaactggca aaaaaacaat tacattttaa
     1561 actaaaactg agactgagaa cagtacccaa tctgtctttt aaagcttata aaagtgaatc
     1621 gggtacaatt agcaaaaaga agaaagaaga cactgaattt atgacgtttt acagtaatga
     1681 agctatactt tggtctttct tccaagaact gcgatttttc tctgtatgaa ttataactta
     1741 gtctgtgttg gaactttgaa ttgtgtaata tacacattaa accatctaaa ttgaagccat
     1801 tcttctaaag gaaggactgc tactttgaca gtacttgatc cagatttcta aagaaaatgt
     1861 ttttgttttg ttgtgttttt ggtaaataaa ctgcaacttt gtcagaaaaa aaaaaaaaaa
     1921 aaaa
//
