LOCUS       NM_003085               1398 bp    mRNA    linear   PRI 17-JUN-2024
DEFINITION  Homo sapiens synuclein beta (SNCB), transcript variant 2, mRNA.
ACCESSION   NM_003085 XM_936492
VERSION     NM_003085.5
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 1398)
  AUTHORS   Mahur,P., Sharma,A., Jahan,G., S,G. A, Kumar Singh,A.,
            Muthukumaran,J. and Jain,M.
  TITLE     Understanding Genetic Risks: Computational Exploration of Human
            beta-Synuclein nsSNPs and their Potential Impact on Structural
            Alteration
  JOURNAL   Neurosci Lett 833, 137826 (2024)
   PUBMED   38768940
  REMARK    GeneRIF: Understanding Genetic Risks: Computational Exploration of
            Human beta-Synuclein nsSNPs and their Potential Impact on
            Structural Alteration.
REFERENCE   2  (bases 1 to 1398)
  AUTHORS   Barba,L., Vollmuth,C., Abu-Rumeileh,S., Halbgebauer,S., Oeckl,P.,
            Steinacker,P., Kollikowski,A.M., Schultz,C., Wolf,J., Pham,M.,
            Schuhmann,M.K., Heuschmann,P.U., Haeusler,K.G., Stoll,G.,
            Neugebauer,H. and Otto,M.
  TITLE     Serum beta-synuclein, neurofilament light chain and glial
            fibrillary acidic protein as prognostic biomarkers in
            moderate-to-severe acute ischemic stroke
  JOURNAL   Sci Rep 13 (1), 20941 (2023)
   PUBMED   38017278
  REMARK    GeneRIF: Serum beta-synuclein, neurofilament light chain and glial
            fibrillary acidic protein as prognostic biomarkers in
            moderate-to-severe acute ischemic stroke.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1398)
  AUTHORS   Abu-Rumeileh,S., Barba,L., Bache,M., Halbgebauer,S., Oeckl,P.,
            Steinacker,P., Guttler,A., Kessler,J., Illert,J., Strauss,C.,
            Vordermark,D. and Otto,M.
  TITLE     Plasma beta-synuclein, GFAP, and neurofilaments in patients with
            malignant gliomas undergoing surgical and adjuvant therapy
  JOURNAL   Ann Clin Transl Neurol 10 (10), 1924-1930 (2023)
   PUBMED   37608748
  REMARK    GeneRIF: Plasma beta-synuclein, GFAP, and neurofilaments in
            patients with malignant gliomas undergoing surgical and adjuvant
            therapy.
REFERENCE   4  (bases 1 to 1398)
  AUTHORS   Halbgebauer,S., Abu-Rumeileh,S., Oeckl,P., Steinacker,P.,
            Roselli,F., Wiesner,D., Mammana,A., Beekes,M.,
            Kortazar-Zubizarreta,I., Perez de Nanclares,G., Capellari,S.,
            Giese,A., Castilla,J., Ludolph,A.C., Zakova,D., Parchi,P. and
            Otto,M.
  TITLE     Blood beta-Synuclein and Neurofilament Light Chain During the
            Course of Prion Disease
  JOURNAL   Neurology 98 (14), e1434-e1445 (2022)
   PUBMED   35110380
  REMARK    GeneRIF: Blood beta-Synuclein and Neurofilament Light Chain During
            the Course of Prion Disease.
REFERENCE   5  (bases 1 to 1398)
  AUTHORS   Beyer,K., Munoz-Marmol,A.M., Sanz,C., Marginet-Flinch,R., Ferrer,I.
            and Ariza,A.
  TITLE     New brain-specific beta-synuclein isoforms show expression ratio
            changes in Lewy body diseases
  JOURNAL   Neurogenetics 13 (1), 61-72 (2012)
   PUBMED   22205345
  REMARK    GeneRIF: Data provide evidence for the role of beta-synuclein minor
            transcript variants in the development of complex diseases and
            provide new insights into the pathogenesis of Lewy body diseases.
REFERENCE   6  (bases 1 to 1398)
  AUTHORS   Lavedan,C., Buchholtz,S., Auburger,G., Albin,R.L.,
            Athanassiadou,A., Blancato,J., Burguera,J.A., Ferrell,R.E.,
            Kostic,V., Leroy,E., Leube,B., Mota-Vieira,L., Papapetropoulos,T.,
            Pericak-Vance,M.A., Pinkus,J., Scott,W.K., Ulm,G., Vasconcelos,J.,
            Vilchez,J.J., Nussbaum,R.L. and Polymeropoulos,M.H.
  TITLE     Absence of mutation in the beta- and gamma-synuclein genes in
            familial autosomal dominant Parkinson's disease
  JOURNAL   DNA Res 5 (6), 401-402 (1998)
   PUBMED   10048491
REFERENCE   7  (bases 1 to 1398)
  AUTHORS   Lavedan,C., Leroy,E., Torres,R., Dehejia,A., Dutra,A.,
            Buchholtz,S., Nussbaum,R.L. and Polymeropoulos,M.H.
  TITLE     Genomic organization and expression of the human beta-synuclein
            gene (SNCB)
  JOURNAL   Genomics 54 (1), 173-175 (1998)
   PUBMED   9806846
REFERENCE   8  (bases 1 to 1398)
  AUTHORS   Jensen,P.H., Hojrup,P., Hager,H., Nielsen,M.S., Jacobsen,L.,
            Olesen,O.F., Gliemann,J. and Jakes,R.
  TITLE     Binding of Abeta to alpha- and beta-synucleins: identification of
            segments in alpha-synuclein/NAC precursor that bind Abeta and NAC
  JOURNAL   Biochem J 323 (Pt 2) (Pt 2), 539-546 (1997)
   PUBMED   9163350
REFERENCE   9  (bases 1 to 1398)
  AUTHORS   Spillantini,M.G., Divane,A. and Goedert,M.
  TITLE     Assignment of human alpha-synuclein (SNCA) and beta-synuclein
            (SNCB) genes to chromosomes 4q21 and 5q35
  JOURNAL   Genomics 27 (2), 379-381 (1995)
   PUBMED   7558013
REFERENCE   10 (bases 1 to 1398)
  AUTHORS   Jakes,R., Spillantini,M.G. and Goedert,M.
  TITLE     Identification of two distinct synucleins from human brain
  JOURNAL   FEBS Lett 345 (1), 27-32 (1994)
   PUBMED   8194594
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM543516.1, S69965.1,
            BC002902.2, BQ184193.1 and AC091934.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003085.4.
            
            Summary: This gene encodes a member of a small family of proteins
            that inhibit phospholipase D2 and may function in neuronal
            plasticity. The encoded protein is abundant in lesions of patients
            with Alzheimer disease. A mutation in this gene was found in
            individuals with dementia with Lewy bodies. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Dec
            2015].
            
            Transcript Variant: This variant (2) lacks an exon in the 5' UTR
            compared to variant 1. Variants 1, 2 and 7 encode the same protein
            (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 :: SRR1803614.496284.1,
                                           SRR3476690.148744.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393693.7/ ENSP00000377296.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-210               BM543516.1         28-237
            211-940             S69965.1           1-730
            941-1239            BC002902.2         928-1226
            1240-1396           BQ184193.1         15-171              c
            1397-1398           AC091934.2         43085-43086
FEATURES             Location/Qualifiers
     source          1..1398
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.2"
     gene            1..1398
                     /gene="SNCB"
                     /note="synuclein beta"
                     /db_xref="GeneID:6620"
                     /db_xref="HGNC:HGNC:11140"
                     /db_xref="MIM:602569"
     exon            1..255
                     /gene="SNCB"
                     /inference="alignment:Splign:2.1.0"
     exon            256..385
                     /gene="SNCB"
                     /inference="alignment:Splign:2.1.0"
     CDS             265..669
                     /gene="SNCB"
                     /note="isoform 1 is encoded by transcript variant 2;
                     beta-synuclein; I(2)-synuclein"
                     /codon_start=1
                     /product="beta-synuclein isoform 1"
                     /protein_id="NP_003076.1"
                     /db_xref="CCDS:CCDS4406.1"
                     /db_xref="GeneID:6620"
                     /db_xref="HGNC:HGNC:11140"
                     /db_xref="MIM:602569"
                     /translation="MDVFMKGLSMAKEGVVAAAEKTKQGVTEAAEKTKEGVLYVGSKT
                     REGVVQGVASVAEKTKEQASHLGGAVFSGAGNIAAATGLVKREEFPTDLKPEEVAQEA
                     AEEPLIEPLMEPEGESYEDPPQEEYQEYEPEA"
     exon            386..427
                     /gene="SNCB"
                     /inference="alignment:Splign:2.1.0"
     exon            428..546
                     /gene="SNCB"
                     /inference="alignment:Splign:2.1.0"
     exon            547..636
                     /gene="SNCB"
                     /inference="alignment:Splign:2.1.0"
     exon            637..1398
                     /gene="SNCB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1251..1256
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNCB"
                     /note="hexamer: AATAAA"
     polyA_site      1271
                     /gene="SNCB"
                     /note="major polyA site"
     polyA_site      1398
                     /gene="SNCB"
ORIGIN      
        1 agagctgccg cagcgccgga gccggagccg gagccggagc gcgcgagctc gcagggcgcg
       61 aggaacgagc ggtggctggc tacgcacccg agacccgggc actgctgcgc tcctgctcag
      121 gacccgcgac ccgagcgcct gatcccggcc ctatcccccc tccggcccct ggtccacccc
      181 ggcctggcct agcggagccc ccgcgtccgc ccgccgcagc cgccgctcca tccccagccc
      241 cggccccgca tccaggccgc caggatggac gtgttcatga agggcctgtc catggccaag
      301 gagggcgttg tggcagccgc ggagaaaacc aagcaggggg tcaccgaggc ggcggagaag
      361 accaaggagg gcgtcctcta cgtcggaagc aagacccgag aaggtgtggt acaaggtgtg
      421 gcttcagtgg ctgaaaaaac caaggaacag gcctcacatc tgggaggagc tgtgttctct
      481 ggggcaggga acatcgcagc agccacagga ctggtgaaga gggaggaatt ccctactgat
      541 ctgaagccag aggaagtggc ccaggaagct gctgaagaac cactgattga gcccctgatg
      601 gagccagaag gggagagtta tgaggaccca ccccaggagg aatatcagga gtatgagcca
      661 gaggcgtagg ggcccaggag agcccccacc agcagcacaa ttctgtccct gtccctgccc
      721 cgccccccag agccagggct gtccttagac tccttctccc caatcacgag atcttccttc
      781 cgctctgagg caaccccctc ggagcctgtg ttagtgtctg tccatctgtc tgtcctaccc
      841 gcccgcgtcc aaccccgggg catggacagg gccagggttg cggtcgcggc tgggagcctc
      901 gcccctccag tgttgcctcc tcccatccag cgtctgcgcg gatgtagcat gttctatgtg
      961 tttttaaacg aagatccgag cgacggctcc tccccgatcc ccgacagtgg ctctccaagc
     1021 ggcccccggg cagccccaga gcaccccgcc cgactcccat taacctcgag aacctttttt
     1081 tttttaacca aaaccaggag ccaggctgtg ccatgtcccc cgccccccat cccagccggc
     1141 ccggtccgaa cgcgggcgtc gtgtgttgtg attgtggcat ggagagtccc catccccccc
     1201 atgtgagcgt gtcccgggcg ggtgggcccg gccgcccccg agagtccatg aataaagcta
     1261 atctgtctgt agccagagcc gcaccggcag ggctgggctg ggcgccgggt gggggcgaca
     1321 cgtggcggcg agtcttccag gtcccagcct acccctctgt gctctttggg gtctggcaca
     1381 cacagcccag gtacaaga
//
