LOCUS       NM_014043               2590 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens charged multivesicular body protein 2B (CHMP2B),
            transcript variant 1, mRNA.
ACCESSION   NM_014043
VERSION     NM_014043.4
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 2590)
  AUTHORS   Richard,A., Berthelet,J., Judith,D., Advedissian,T., Espadas,J.,
            Jannot,G., Amo,A., Loew,D., Lombard,B., Casanova,A.G., Reynoird,N.,
            Roux,A., Berlioz-Torrent,C., Echard,A., Weitzman,J.B. and
            Medjkane,S.
  TITLE     Methylation of ESCRT-III components regulates the timing of
            cytokinetic abscission
  JOURNAL   Nat Commun 15 (1), 4023 (2024)
   PUBMED   38740816
  REMARK    GeneRIF: Methylation of ESCRT-III components regulates the timing
            of cytokinetic abscission.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2590)
  AUTHORS   Chen,Y., Krishnan,G., Parsi,S., Pons,M., Nikolaki,V., Cao,L., Xu,Z.
            and Gao,F.B.
  TITLE     The enhanced association between mutant CHMP2B and spastin is a
            novel pathological link between frontotemporal dementia and
            hereditary spastic paraplegias
  JOURNAL   Acta Neuropathol Commun 10 (1), 169 (2022)
   PUBMED   36414997
  REMARK    GeneRIF: The enhanced association between mutant CHMP2B and spastin
            is a novel pathological link between frontotemporal dementia and
            hereditary spastic paraplegias.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2590)
  AUTHORS   Wenzel,D.M., Mackay,D.R., Skalicky,J.J., Paine,E.L., Miller,M.S.,
            Ullman,K.S. and Sundquist,W.I.
  TITLE     Comprehensive analysis of the human ESCRT-III-MIT domain
            interactome reveals new cofactors for cytokinetic abscission
  JOURNAL   Elife 11, e77779 (2022)
   PUBMED   36107470
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2590)
  AUTHORS   Roos,P., Johannsen,P., Lindquist,S.G., Brown,J.M., Waldemar,G.,
            Duno,M., Nielsen,T.T., Budtz-Jorgensen,E., Gydesen,S., Holm,I.E.,
            Collinge,J., Isaacs,A.M. and Nielsen,J.E.
  CONSRTM   Frontotemporal dementia Research in Jutland Association (FReJA)
            consortium
  TITLE     Six generations of CHMP2B-mediated Frontotemporal Dementia:
            Clinical features, predictive testing, progression, and survival
  JOURNAL   Acta Neurol Scand 145 (5), 529-540 (2022)
   PUBMED   34997757
  REMARK    GeneRIF: Six generations of CHMP2B-mediated Frontotemporal
            Dementia: Clinical features, predictive testing, progression, and
            survival.
REFERENCE   5  (bases 1 to 2590)
  AUTHORS   Tsang,H.T., Connell,J.W., Brown,S.E., Thompson,A., Reid,E. and
            Sanderson,C.M.
  TITLE     A systematic analysis of human CHMP protein interactions:
            additional MIT domain-containing proteins bind to multiple
            components of the human ESCRT III complex
  JOURNAL   Genomics 88 (3), 333-346 (2006)
   PUBMED   16730941
REFERENCE   6  (bases 1 to 2590)
  AUTHORS   Lippincott-Schwartz,J., Roberts,T.H. and Hirschberg,K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
REFERENCE   7  (bases 1 to 2590)
  AUTHORS   Ashworth,A., Lloyd,S., Brown,J., Gydesen,S., Sorensen,S.A.,
            Brun,A., Englund,E., Humphreys,C., Housman,D., Badura,M.,
            Stanton,V. Jr., Taylor,K., Cameron,J., Munroe,D., Johansson,J.,
            Rossor,M., Fisher,E.M. and Collinge,J.
  TITLE     Molecular genetic characterisation of frontotemporal dementia on
            chromosome 3
  JOURNAL   Dement Geriatr Cogn Disord 10 Suppl 1, 93-101 (1999)
   PUBMED   10436350
REFERENCE   8  (bases 1 to 2590)
  AUTHORS   Brown,J., Ashworth,A., Gydesen,S., Sorensen,A., Rossor,M., Hardy,J.
            and Collinge,J.
  TITLE     Familial non-specific dementia maps to chromosome 3
  JOURNAL   Hum Mol Genet 4 (9), 1625-1628 (1995)
   PUBMED   8541850
REFERENCE   9  (bases 1 to 2590)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
REFERENCE   10 (bases 1 to 2590)
  AUTHORS   Roos,P., Holm,I.E., Nielsen,J.E., Nielsen,T.T., Brown,J.M.,
            Johannsen,P. and Isaacs,A.M.
  TITLE     CHMP2B Frontotemporal Dementia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301378
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM828410.1, BC001553.1,
            DA426159.1, BM982148.1 and AC130885.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014043.3.
            
            Summary: This gene encodes a component of the heteromeric ESCRT-III
            complex (Endosomal Sorting Complex Required for Transport III) that
            functions in the recycling or degradation of cell surface
            receptors. ESCRT-III functions in the concentration and
            invagination of ubiquitinated endosomal cargos into intralumenal
            vesicles. The protein encoded by this gene is found as a monomer in
            the cytosol or as an oligomer in ESCRT-III complexes on endosomal
            membranes. It is expressed in neurons of all major regions of the
            brain. Mutations in this gene result in one form of familial
            frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes 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 :: AK002165.1, SRR3476690.884680.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263780.9/ ENSP00000263780.4
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-138               BM828410.1         47-184
            139-525             BC001553.1         1-387
            526-556             DA426159.1         543-573
            557-2444            BC001553.1         419-2306
            2445-2582           BM982148.1         16-153              c
            2583-2590           AC130885.3         22611-22618
FEATURES             Location/Qualifiers
     source          1..2590
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p11.2"
     gene            1..2590
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /note="charged multivesicular body protein 2B"
                     /db_xref="GeneID:25978"
                     /db_xref="HGNC:HGNC:24537"
                     /db_xref="MIM:609512"
     exon            1..248
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             215..856
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /note="isoform 1 is encoded by transcript variant 1; VPS2
                     homolog B; vacuolar protein-sorting-associated protein
                     2-2; chromatin modifying protein 2B"
                     /codon_start=1
                     /product="charged multivesicular body protein 2b isoform
                     1"
                     /protein_id="NP_054762.2"
                     /db_xref="CCDS:CCDS2918.1"
                     /db_xref="GeneID:25978"
                     /db_xref="HGNC:HGNC:24537"
                     /db_xref="MIM:609512"
                     /translation="MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLEL
                     EIKKMAKIGNKEACKVLAKQLVHLRKQKTRTFAVSSKVTSMSTQTKVMNSQMKMAGAM
                     STTAKTMQAVNKKMDPQKTLQTMQNFQKENMKMEMTEEMINDTLDDIFDGSDDEEESQ
                     DIVNQVLDEIGIEISGKMAKAPSAARSLPSASTSKATISDEEIERQLKALGVD"
     exon            249..340
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /inference="alignment:Splign:2.1.0"
     exon            341..535
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /inference="alignment:Splign:2.1.0"
     exon            536..638
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /inference="alignment:Splign:2.1.0"
     exon            639..745
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /inference="alignment:Splign:2.1.0"
     exon            746..2590
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1233..1238
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /note="hexamer: ATTAAA"
     polyA_site      1258
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /note="major polyA site"
     regulatory      1930..1935
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /note="hexamer: AATAAA"
     polyA_site      1953
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
     regulatory      2502..2507
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /note="hexamer: AATAAA"
     polyA_site      2533
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /note="major polyA site"
     regulatory      2564..2569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
                     /note="hexamer: ATTAAA"
     polyA_site      2590
                     /gene="CHMP2B"
                     /gene_synonym="ALS17; CHMP2.5; DMT1; FTDALS7; VPS2-2;
                     VPS2B"
ORIGIN      
        1 gttagttccc ggtcacctga gctccgggtg acgcggctgc ggtagctgcg gatacaagcc
       61 ttccgcgggt cctgcctggc gaccccgacc tcctcctgct gtctctccgc tccgccaccc
      121 cgaacccgcc aaggtcctgt ccttttcctc ctgtcctttg ccagcgttgg gccggaccgg
      181 gccgagccgg gccgcccggg cgcagtcttt aaccatggcg tccctcttca agaagaaaac
      241 cgtggatgat gtaataaagg aacagaatcg agagttacga ggtacacaga gggctataat
      301 cagagatcga gcagctttag agaaacaaga aaaacagctg gaattagaaa ttaagaaaat
      361 ggccaagatt ggtaataagg aagcttgcaa agttttagcc aaacaacttg tgcatctacg
      421 gaaacagaag acgagaactt ttgctgtaag ttcaaaagtt acttctatgt ctacacaaac
      481 aaaagtgatg aattcccaaa tgaagatggc tggagcaatg tctactacag caaaaacaat
      541 gcaggcagtt aacaagaaga tggatccaca aaagacatta caaacaatgc agaatttcca
      601 gaaggaaaac atgaaaatgg aaatgactga agaaatgatc aatgatacac ttgatgacat
      661 ctttgacggt tctgatgacg aagaagaaag ccaggatatt gtgaatcaag ttcttgatga
      721 aattggaatt gaaatttctg gaaagatggc caaagctcca tcagctgctc gaagcttacc
      781 atctgcctct acttcaaagg ctacaatctc agatgaagag attgaacggc aactcaaggc
      841 tttaggagta gattagtcaa aagaagtcat actattttgc ttacttataa ttatgtagta
      901 taaaccaagc acagtgcaga tttcttttac aaaacacatg tattttgcaa aaaaaaaaaa
      961 aatgaagacc atgagtgaac agttgtttcc taacccatgg ctatttagaa tcttttgcca
     1021 aagaatgaca atgatgcaaa aatgggaaca gtttggattt taattagaac tgtttaggag
     1081 tgatgatgtg taaaaagttg acttctcttt tgcatggcac agagaaatta tattccttac
     1141 ttcatgtcag tttatgttct aaatcttttt cactgaatat aaaaatcttg ttaaatgcca
     1201 ttaggcacca acttaaagag ggttgtaaaa atattaaaag tatatcgtta attctgtatc
     1261 tgttgcttgt cttttgtaag tgattatgtg ttatgaccat aggtggttac agctgccaaa
     1321 ttatttttaa atggtcaaaa agaagagtgc tatttaaaca tctgtcttaa acaaaaactg
     1381 tcataacttt tcttttttct ttttccatta ggagaacatt ctagttggta aatttcaaaa
     1441 tgtgcttgac acctgcctta aatagcacag acctattgtg cacatcttta aattatttca
     1501 gctggcagaa aagaattaca tttaaaactg aaatcaaggc ctcaatacaa agattatcct
     1561 ggctcttttc tatctctgtg ggcctaattg aaatatgtac tcttatttta gacacgcctc
     1621 tgttaaaaca gaccaggttt tcctggtctc agacctatga tgacttgtcc ctttgatgtc
     1681 actactgtga attgaatata attagtaaaa atagacgatg aataaataac actttatagt
     1741 aagaaaacaa tatattttgg ccatctaaaa atgagaatta taattatatg aattataatt
     1801 taaactgttt aattttgttt aatgtgtata ttgaatcttc caaattgaag ccattattct
     1861 caattaagta ctacaactat gacaatgctt gacctacatt tctaaaataa aaattcacat
     1921 tttttgataa ataaactaca gttttaccag aaattactat ctaaatgtgt attagcagta
     1981 ttttttaagg tgaaattgcc ttggtatcta atgaatgtgt agacagggag ataaaatgaa
     2041 ggattgccag actagttaga atagaattta ggattaggtt agttttgaaa aatgatgttg
     2101 taatatatgg gttctaacac atcctaccat aaaaactgga ggagatatgt gtaacctggt
     2161 taatttggga tggtggacat tttgggctaa tactgacaaa atacatctta ggactagtat
     2221 acatgtgaca cggattgcta ggaggaatga aaaactaaac tgtatagttt atattccgta
     2281 aaccatttta taatgttcaa agattaggtt ttgttattga tagtattaaa tacacagttt
     2341 ctcttaacag tgatgggtga aaacatttta ccggattatg gaatgtttac cagaacatgt
     2401 tttgattctt gaatgtacat aataatgcca tctaacttat ttacgttctt gtttacatgt
     2461 gggagctttt gttttcaaaa attattttgt taaaaaatct caataaagat ttattattgt
     2521 tgttcttttc ttaccttttt tgctcttttt ggttcctgct aaaattaaaa attttatgca
     2581 tatttggtaa
//
