LOCUS       NM_017411               1482 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens survival of motor neuron 2, centromeric (SMN2),
            transcript variant d, mRNA.
ACCESSION   NM_017411
VERSION     NM_017411.4
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 1482)
  AUTHORS   Ricci,M., Cicala,G., Capasso,A., Coratti,G., Fiori,S., Cutrona,C.,
            D'Amico,A., Sansone,V.A., Bruno,C., Messina,S., Mongini,T.,
            Coccia,M., Siciliano,G., Pegoraro,E., Masson,R., Filosto,M.,
            Comi,G.P., Corti,S., Ronchi,D., Maggi,L., D'Angelo,M.G.,
            Vacchiano,V., Ticci,C., Ruggiero,L., Verriello,L., Ricci,F.S.,
            Berardinelli,A.L., Maioli,M.A., Garibaldi,M., Nigro,V.,
            Previtali,S.C., Pera,M.C., Tizzano,E., Pane,M., Tiziano,F.D. and
            Mercuri,E.
  CONSRTM   ITASMAC Working Group
  TITLE     Clinical Phenotype of Pediatric and Adult Patients With Spinal
            Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
  JOURNAL   Ann Neurol 94 (6), 1126-1135 (2023)
   PUBMED   37695206
  REMARK    GeneRIF: Clinical Phenotype of Pediatric and Adult Patients With
            Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All
            Stable?
REFERENCE   2  (bases 1 to 1482)
  AUTHORS   Kimizu,T., Ida,S., Oki,K., Shima,M., Nishimoto,S., Nakajima,K.,
            Ikeda,T., Mogami,Y., Yanagihara,K., Matsuda,K., Nishi,E.,
            Hasegawa,Y., Nozaki,M., Fujita,H., Irie,A., Katayama,T.,
            Okamoto,N., Imai,K., Nishio,H. and Suzuki,Y.
  TITLE     Newborn screening for spinal muscular atrophy in Osaka -challenges
            in a Japanese pilot study
  JOURNAL   Brain Dev 45 (7), 363-371 (2023)
   PUBMED   36973114
  REMARK    GeneRIF: Newborn screening for spinal muscular atrophy in Osaka
            -challenges in a Japanese pilot study.
REFERENCE   3  (bases 1 to 1482)
  AUTHORS   Davidson,J.E., Russell,J.S., Martinez,N.N., Mowat,D.R., Jones,K.J.,
            Kirk,E.P., Kariyawasam,D., Farrar,M. and D'Silva,A.
  TITLE     The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic
            Children with SMA and the Significance of SMN1 Exon 8 in Carriers
  JOURNAL   Genes (Basel) 14 (7), 1403 (2023)
   PUBMED   37510307
  REMARK    GeneRIF: The Carrier Frequency of Two SMN1 Genes in Parents of
            Symptomatic Children with SMA and the Significance of SMN1 Exon 8
            in Carriers.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1482)
  AUTHORS   Wang,L., Ji,Y., Chen,Y., Bai,J., Gao,P. and Feng,P.
  TITLE     A splicing silencer in SMN2 intron 6 is critical in spinal muscular
            atrophy
  JOURNAL   Hum Mol Genet 32 (6), 971-983 (2023)
   PUBMED   36255739
  REMARK    GeneRIF: A splicing silencer in SMN2 intron 6 is critical in spinal
            muscular atrophy.
REFERENCE   5  (bases 1 to 1482)
  AUTHORS   Kanda,S., Moulton,E. and Butchbach,M.E.R.
  TITLE     Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on
            Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression
  JOURNAL   Mol Pharmacol 102 (2), 92-105 (2022)
   PUBMED   35667685
  REMARK    GeneRIF: Effects of Inhibitors of SLC9A-Type Sodium-Proton
            Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and
            Expression.
REFERENCE   6  (bases 1 to 1482)
  AUTHORS   Liu,Q. and Dreyfuss,G.
  TITLE     A novel nuclear structure containing the survival of motor neurons
            protein
  JOURNAL   EMBO J 15 (14), 3555-3565 (1996)
   PUBMED   8670859
REFERENCE   7  (bases 1 to 1482)
  AUTHORS   Gennarelli,M., Lucarelli,M., Capon,F., Pizzuti,A., Merlini,L.,
            Angelini,C., Novelli,G. and Dallapiccola,B.
  TITLE     Survival motor neuron gene transcript analysis in muscles from
            spinal muscular atrophy patients
  JOURNAL   Biochem Biophys Res Commun 213 (1), 342-348 (1995)
   PUBMED   7639755
REFERENCE   8  (bases 1 to 1482)
  AUTHORS   Lefebvre,S., Burglen,L., Reboullet,S., Clermont,O., Burlet,P.,
            Viollet,L., Benichou,B., Cruaud,C., Millasseau,P., Zeviani,M. et
            al.
  TITLE     Identification and characterization of a spinal muscular
            atrophy-determining gene
  JOURNAL   Cell 80 (1), 155-165 (1995)
   PUBMED   7813012
REFERENCE   9  (bases 1 to 1482)
  AUTHORS   van der Steege,G., Draaijers,T.G., Grootscholten,P.M., Osinga,J.,
            Anzevino,R., Velona,I., Den Dunnen,J.T., Scheffer,H., Brahe,C., van
            Ommen,G.J. et al.
  TITLE     A provisional transcript map of the spinal muscular atrophy (SMA)
            critical region
  JOURNAL   Eur J Hum Genet 3 (2), 87-95 (1995)
   PUBMED   7552146
REFERENCE   10 (bases 1 to 1482)
  AUTHORS   Prior,T.W., Leach,M.E. and Finanger,E.L.
  TITLE     Spinal Muscular Atrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301526
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015308.1, CN272420.1 and
            AI312583.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 22, 2019 this sequence version replaced NM_017411.3.
            
            Summary: This gene is part of a 500 kb inverted duplication on
            chromosome 5q13. This duplicated region contains at least four
            genes and repetitive elements which make it prone to rearrangements
            and deletions. The repetitiveness and complexity of the sequence
            have also caused difficulty in determining the organization of this
            genomic region. The telomeric and centromeric copies of this gene
            are nearly identical and encode the same protein. While mutations
            in the telomeric copy are associated with spinal muscular atrophy,
            mutations in this gene, the centromeric copy, do not lead to
            disease. This gene may be a modifier of disease caused by mutation
            in the telomeric copy. The critical sequence difference between the
            two genes is a single nucleotide in exon 7, which is thought to be
            an exon splice enhancer. Note that the nine exons of both the
            telomeric and centromeric copies are designated historically as
            exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events
            may involve the two genes, leading to varying copy numbers of each
            gene. The full length protein encoded by this gene localizes to
            both the cytoplasm and the nucleus. Within the nucleus, the protein
            localizes to subnuclear bodies called gems which are found near
            coiled bodies containing high concentrations of small
            ribonucleoproteins (snRNPs). This protein forms heteromeric
            complexes with proteins such as SIP1 and GEMIN4, and also interacts
            with several proteins known to be involved in the biogenesis of
            snRNPs, such as hnRNP U protein and the small nucleolar RNA binding
            protein. Four transcript variants encoding distinct isoforms have
            been described. [provided by RefSeq, Sep 2008].
            
            Transcript Variant: This variant (d) represents the longest
            transcript and encodes the longest isoform (d).
            
            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 :: SRR7410571.120678.1,
                                           SRR7410571.120550.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380743.9/ ENSP00000370119.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-478               BC015308.1         14-491
            479-856             CN272420.1         328-705
            857-1479            BC015308.1         870-1492
            1480-1482           AI312583.1         7-9                 c
FEATURES             Location/Qualifiers
     source          1..1482
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..1482
                     /gene="SMN2"
                     /gene_synonym="BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B"
                     /note="survival of motor neuron 2, centromeric"
                     /db_xref="GeneID:6607"
                     /db_xref="HGNC:HGNC:11118"
                     /db_xref="MIM:601627"
     exon            1..98
                     /gene="SMN2"
                     /gene_synonym="BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..902
                     /gene="SMN2"
                     /gene_synonym="BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B"
                     /note="isoform d is encoded by transcript variant d;
                     survival motor neuron protein; gemin-1; component of gems
                     1; tudor domain containing 16B"
                     /codon_start=1
                     /product="survival motor neuron protein isoform d"
                     /protein_id="NP_059107.1"
                     /db_xref="CCDS:CCDS4007.1"
                     /db_xref="GeneID:6607"
                     /db_xref="HGNC:HGNC:11118"
                     /db_xref="MIM:601627"
                     /translation="MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYD
                     KAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIW
                     SEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENE
                     NESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPP
                     PPPPPPPPHLLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGY
                     YMGFRQNQKEGRCSHSLN"
     exon            99..170
                     /gene="SMN2"
                     /gene_synonym="BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B"
                     /inference="alignment:Splign:2.1.0"
     exon            171..290
                     /gene="SMN2"
                     /gene_synonym="BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B"
                     /inference="alignment:Splign:2.1.0"
     exon            291..491
                     /gene="SMN2"
                     /gene_synonym="BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B"
                     /inference="alignment:Splign:2.1.0"
     exon            492..644
                     /gene="SMN2"
                     /gene_synonym="BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B"
                     /inference="alignment:Splign:2.1.0"
     exon            645..740
                     /gene="SMN2"
                     /gene_synonym="BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B"
                     /inference="alignment:Splign:2.1.0"
     exon            741..851
                     /gene="SMN2"
                     /gene_synonym="BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B"
                     /inference="alignment:Splign:2.1.0"
     exon            852..905
                     /gene="SMN2"
                     /gene_synonym="BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1482
                     /gene="SMN2"
                     /gene_synonym="BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcacccgcgg gtttgctatg gcgatgagca gcggcggcag tggtggcggc gtcccggagc
       61 aggaggattc cgtgctgttc cggcgcggca caggccagag cgatgattct gacatttggg
      121 atgatacagc actgataaaa gcatatgata aagctgtggc ttcatttaag catgctctaa
      181 agaatggtga catttgtgaa acttcgggta aaccaaaaac cacacctaaa agaaaacctg
      241 ctaagaagaa taaaagccaa aagaagaata ctgcagcttc cttacaacag tggaaagttg
      301 gggacaaatg ttctgccatt tggtcagaag acggttgcat ttacccagct accattgctt
      361 caattgattt taagagagaa acctgtgttg tggtttacac tggatatgga aatagagagg
      421 agcaaaatct gtccgatcta ctttccccaa tctgtgaagt agctaataat atagaacaaa
      481 atgctcaaga gaatgaaaat gaaagccaag tttcaacaga tgaaagtgag aactccaggt
      541 ctcctggaaa taaatcagat aacatcaagc ccaaatctgc tccatggaac tcttttctcc
      601 ctccaccacc ccccatgcca gggccaagac tgggaccagg aaagccaggt ctaaaattca
      661 atggcccacc accgccaccg ccaccaccac caccccactt actatcatgc tggctgcctc
      721 catttccttc tggaccacca ataattcccc caccacctcc catatgtcca gattctcttg
      781 atgatgctga tgctttggga agtatgttaa tttcatggta catgagtggc tatcatactg
      841 gctattatat gggttttaga caaaatcaaa aagaaggaag gtgctcacat tccttaaatt
      901 aaggagaaat gctggcatag agcagcacta aatgacacca ctaaagaaac gatcagacag
      961 atctggaatg tgaagcgtta tagaagataa ctggcctcat ttcttcaaaa tatcaagtgt
     1021 tgggaaagaa aaaaggaagt ggaatgggta actcttcttg attaaaagtt atgtaataac
     1081 caaatgcaat gtgaaatatt ttactggact ctattttgaa aaaccatctg taaaagactg
     1141 aggtgggggt gggaggccag cacggtggtg aggcagttga gaaaatttga atgtggatta
     1201 gattttgaat gatattggat aattattggt aattttatga gctgtgagaa gggtgttgta
     1261 gtttataaaa gactgtctta atttgcatac ttaagcattt aggaatgaag tgttagagtg
     1321 tcttaaaatg tttcaaatgg tttaacaaaa tgtatgtgag gcgtatgtgg caaaatgtta
     1381 cagaatctaa ctggtggaca tggctgttca ttgtactgtt tttttctatc ttctatatgt
     1441 ttaaaagtat ataataaaaa tatttaattt ttttttaaat ta
//
