LOCUS       NM_133625               3320 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.
ACCESSION   NM_133625
VERSION     NM_133625.6
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 3320)
  AUTHORS   Meng,X.H., Chen,X.D., Greenbaum,J., Zeng,Q., You,S.L., Xiao,H.M.,
            Tan,L.J. and Deng,H.W.
  TITLE     Integration of summary data from GWAS and eQTL studies identified
            novel causal BMD genes with functional predictions
  JOURNAL   Bone 113, 41-48 (2018)
   PUBMED   29763751
  REMARK    GeneRIF: Our findings support that ASB16-AS1 and SYN2 may represent
            two novel functional genes underlying bone mineral density
            variation
REFERENCE   2  (bases 1 to 3320)
  AUTHORS   Cruceanu,C., Kutsarova,E., Chen,E.S., Checknita,D.R., Nagy,C.,
            Lopez,J.P., Alda,M., Rouleau,G.A. and Turecki,G.
  TITLE     DNA hypomethylation of Synapsin II CpG islands associates with
            increased gene expression in bipolar disorder and major depression
  JOURNAL   BMC Psychiatry 16 (1), 286 (2016)
   PUBMED   27515700
  REMARK    GeneRIF: These findings contribute to previous work showing
            dysregulation of Synapsins, particularly SYN2, in mood disorders
            and improve our understanding of the regulatory mechanisms that
            precipitate these changes likely leading to the BD or MDD
            phenotype.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3320)
  AUTHORS   Prasad,D.K., Shaheen,U., Satyanarayana,U., Prabha,T.S., Jyothy,A.
            and Munshi,A.
  TITLE     Association of GABRA6 1519 T>C (rs3219151) and Synapsin II
            (rs37733634) gene polymorphisms with the development of idiopathic
            generalized epilepsy
  JOURNAL   Epilepsy Res 108 (8), 1267-1273 (2014)
   PUBMED   25088614
  REMARK    GeneRIF: Both GABRA6 and Synapsin II polymorphisms are important
            risk factors for the development of idiopathic generalized epilepsy
            in a South Indian population.
REFERENCE   4  (bases 1 to 3320)
  AUTHORS   Corradi,A., Fadda,M., Piton,A., Patry,L., Marte,A., Rossi,P.,
            Cadieux-Dion,M., Gauthier,J., Lapointe,L., Mottron,L., Valtorta,F.,
            Rouleau,G.A., Fassio,A., Benfenati,F. and Cossette,P.
  TITLE     SYN2 is an autism predisposing gene: loss-of-function mutations
            alter synaptic vesicle cycling and axon outgrowth
  JOURNAL   Hum Mol Genet 23 (1), 90-103 (2014)
   PUBMED   23956174
  REMARK    GeneRIF: Results identify SYN2 as a novel predisposing gene for
            autism spectrum disorders (ASD) and strengthen the hypothesis that
            a disturbance of synaptic homeostasis underlies ASD.
REFERENCE   5  (bases 1 to 3320)
  AUTHORS   Porton,B., Kao,H.T. and Greengard,P.
  TITLE     Cloning of cDNAs encoding human synapsins IIa and IIb
  JOURNAL   DNA Seq 10 (1), 49-54 (1999)
   PUBMED   10565545
REFERENCE   6  (bases 1 to 3320)
  AUTHORS   Xie,Y.
  TITLE     Cloning and sequencing analysis of a human synapsin IIb-encoding
            brain cDNA
  JOURNAL   Gene 173 (2), 289-290 (1996)
   PUBMED   8964517
REFERENCE   7  (bases 1 to 3320)
  AUTHORS   Petersohn,D., Schoch,S., Brinkmann,D.R. and Thiel,G.
  TITLE     The human synapsin II gene promoter. Possible role for the
            transcription factor zif268/egr-1, polyoma enhancer activator 3,
            and AP2
  JOURNAL   J Biol Chem 270 (41), 24361-24369 (1995)
   PUBMED   7592648
REFERENCE   8  (bases 1 to 3320)
  AUTHORS   Li,L., Chin,L.S., Greengard,P., Copeland,N.G., Gilbert,D.J. and
            Jenkins,N.A.
  TITLE     Localization of the synapsin II (SYN2) gene to human chromosome 3
            and mouse chromosome 6
  JOURNAL   Genomics 28 (2), 365-366 (1995)
   PUBMED   8530057
REFERENCE   9  (bases 1 to 3320)
  AUTHORS   Greengard,P., Valtorta,F., Czernik,A.J. and Benfenati,F.
  TITLE     Synaptic vesicle phosphoproteins and regulation of synaptic
            function
  JOURNAL   Science 259 (5096), 780-785 (1993)
   PUBMED   8430330
  REMARK    Review article
REFERENCE   10 (bases 1 to 3320)
  AUTHORS   Sudhof,T.C., Czernik,A.J., Kao,H.T., Takei,K., Johnston,P.A.,
            Horiuchi,A., Kanazir,S.D., Wagner,M.A., Perin,M.S., De Camilli,P.
            et al.
  TITLE     Synapsins: mosaics of shared and individual domains in a family of
            synaptic vesicle phosphoproteins
  JOURNAL   Science 245 (4925), 1474-1480 (1989)
   PUBMED   2506642
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022234.4, ABBA01025208.1,
            AC026166.5 and AC091492.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_133625.5.
            
            Summary: This gene is a member of the synapsin gene family.
            Synapsins encode neuronal phosphoproteins which associate with the
            cytoplasmic surface of synaptic vesicles. Family members are
            characterized by common protein domains, and they are implicated in
            synaptogenesis and the modulation of neurotransmitter release,
            suggesting a potential role in several neuropsychiatric diseases.
            This member of the synapsin family encodes a neuron-specific
            phosphoprotein that selectively binds to small synaptic vesicles in
            the presynaptic nerve terminal. Polymorphisms in this gene are
            associated with abnormal presynaptic function and related neuronal
            disorders, including autism, epilepsy, bipolar disorder and
            schizophrenia. Alternative splicing of this gene results in
            multiple transcript variants. The tissue inhibitor of
            metalloproteinase 4 gene is located within an intron of this gene
            and is transcribed in the opposite direction. [provided by RefSeq,
            Feb 2014].
            
            Transcript Variant: This variant (IIa) represents the shorter
            transcript but encodes the longer isoform (IIa), which has an
            alternate C-terminus with distinct H and E domains, compared to
            isoform IIb.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC051307.1, AF077671.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000621198.5/ ENSP00000480050.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-46                AC022234.4         37113-37158         c
            47-541              ABBA01025208.1     100859-101353       c
            542-599             AC026166.5         131667-131724
            600-691             AC026166.5         132921-133012
            692-848             AC026166.5         136695-136851
            849-938             AC026166.5         142253-142342
            939-1001            AC026166.5         152562-152624
            1002-1144           AC026166.5         153028-153170
            1145-1219           AC026166.5         158250-158324
            1220-1322           AC026166.5         159392-159494
            1323-1472           AC026166.5         160773-160922
            1473-1533           AC091492.2         33558-33618
            1534-1777           AC091492.2         37615-37858
            1778-3320           AC091492.2         40736-42278
FEATURES             Location/Qualifiers
     source          1..3320
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.2"
     gene            1..3320
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /note="synapsin II"
                     /db_xref="GeneID:6854"
                     /db_xref="HGNC:HGNC:11495"
                     /db_xref="MIM:600755"
     exon            1..541
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     CDS             165..1913
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /note="isoform IIa is encoded by transcript variant IIa;
                     synapsin-2"
                     /codon_start=1
                     /product="synapsin-2 isoform IIa"
                     /protein_id="NP_598328.1"
                     /db_xref="CCDS:CCDS74900.1"
                     /db_xref="GeneID:6854"
                     /db_xref="HGNC:HGNC:11495"
                     /db_xref="MIM:600755"
                     /translation="MMNFLRRRLSDSSFIANLPNGYMTDLQRPEPQQPPPPPPPGPGA
                     ASASAAPPTASPGPERRPPPASAPAPQPAPTPSVGSSFFSSLSQAVKQTAASAGLVDA
                     PAPAPAAARKAKVLLVVDEPHADWAKCFRGKKVLGDYDIKVEQAEFSELNLVAHADGT
                     YAVDMQVLRNGTKVVRSFRPDFVLIRQHAFGMAENEDFRHLIIGMQYAGLPSINSLES
                     IYNFCDKPWVFAQLVAIYKTLGGEKFPLIEQTYYPNHKEMLTLPTFPVVVKIGHAHSG
                     MGKVKVENHYDFQDIASVVALTQTYATAEPFIDSKYDIRVQKIGNNYKAYMRTSISGN
                     WKTNTGSAMLEQIAMSDRYKLWVDTCSEMFGGLDICAVKAVHGKDGKDYIFEVMDCSM
                     PLIGEHQVEDRQLITELVISKMNQLLSRTPALSPQRPLTTQQPQSGTLKDPDSSKTPP
                     QRPPPQGGPGQPQGMQPPGKVLPPRRLPPGPSLPPSSSSSSSSSSSAPQRPGGPTTHG
                     DAPSSSSSLAEAQPPLAAPPQKPQPHPQLNKSQSLTNAFSFSESSFFRSSANEDEAKA
                     ETIRSLRKSFASLFSD"
     exon            542..599
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     exon            600..691
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     exon            692..848
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     exon            849..938
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1001
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..1144
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     exon            1145..1219
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     exon            1220..1322
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..1472
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     exon            1473..1533
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     exon            1534..1777
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     exon            1778..3320
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2647..2652
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /note="hexamer: AATAAA"
     regulatory      2671..2676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /note="hexamer: AATAAA"
     polyA_site      2677
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /note="major polyA site"
     polyA_site      2694
                     /gene="SYN2"
                     /gene_synonym="SYNII"
     regulatory      3292..3297
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYN2"
                     /gene_synonym="SYNII"
                     /note="hexamer: AATAAA"
     polyA_site      3320
                     /gene="SYN2"
                     /gene_synonym="SYNII"
ORIGIN      
        1 agaccgccgc tgctgtctgc ggggtctggt gccggggcct gagtctctgc tggctaagcc
       61 gccgcctcag ccgcctcagt cgcctcaatc tcgccttccg ccctcgctct ccctccgcgc
      121 caccagaccc cgtagccccg cgcgccccca gccctttaag ccagatgatg aacttcctgc
      181 ggcgccggct gtcggacagc agcttcatcg ccaacctgcc caacggctac atgaccgacc
      241 tgcagcggcc cgagccccag cagccgccgc cgccgccgcc ccccggtccg ggcgccgcct
      301 cggcctcggc ggcgcccccg accgcctcgc cgggcccgga gcggaggccg ccgcccgcct
      361 cggcgcccgc gccgcagccc gcgccgacgc cgtcggtggg cagcagcttc ttcagctcgc
      421 tgtcccaagc cgtgaagcag acggccgcct cggctggcct ggtggacgcg cccgctcccg
      481 cgcccgcagc cgccaggaag gccaaggtgc tgctggtggt cgacgagccg cacgccgact
      541 gggccaagtg ctttcggggc aaaaaagtcc ttggagatta tgatatcaag gtggaacagg
      601 cagaattttc agagctcaac ctggtggccc atgcagatgg cacctatgct gtggatatgc
      661 aggttctccg gaatggcaca aaggttgtcc ggtccttccg gccagacttc gtgctcatcc
      721 ggcagcatgc atttggcatg gcggagaatg aggacttccg ccacctgatc attggtatgc
      781 agtatgcagg cctccccagc atcaactcac tggaatccat atacaacttc tgtgacaagc
      841 catgggtgtt tgcccagctg gtcgctatct ataagacact gggaggagaa aagttccctc
      901 tcattgaaca gacatactac cccaaccaca aagagatgct gacactgccc acgttccctg
      961 tggtggtgaa gattggccac gctcactcag gcatgggcaa ggtcaaagtg gaaaaccact
     1021 acgacttcca ggacattgcc agcgtggtgg ctctcaccca gacctatgcc actgcagagc
     1081 ctttcattga ctccaagtat gacatccggg tccagaagat tggcaacaac tacaaggctt
     1141 acatgaggac atcgatctca gggaactgga agacgaacac tggctctgcg atgctggagc
     1201 agattgccat gtcagacagg tacaaactgt gggtggacac ctgctctgag atgtttggcg
     1261 gcctggacat ctgtgctgtc aaagctgtac atggcaaaga tgggaaagac tacatttttg
     1321 aggtcatgga ctgtagcatg ccactgattg gggaacatca ggtggaggac aggcaactca
     1381 tcaccgaact agtcatcagc aagatgaacc agctgctgtc caggactcct gccctgtctc
     1441 ctcagagacc cctaacaacc cagcagccac agagcggaac acttaaggat ccggactcaa
     1501 gcaagacccc acctcagcgg ccaccccctc aagggggccc tgggcaaccc caaggaatgc
     1561 agcccccagg caaggtgctg cctccacgcc ggctcccccc tggaccatca ctgccacctt
     1621 cctcctcttc ctcctcttct tcctcctcct cggctcctca gcggccgggc ggccccacca
     1681 cccacggaga tgcaccctcc agcagcagct ccctggcaga ggcccagcca cccctggctg
     1741 ctccaccaca gaagccccag cctcacccac agctcaacaa gtcgcagtcc ctgacaaatg
     1801 ccttcagctt ctctgagtcc tccttcttcc ggtcttcagc caatgaggat gaagccaaag
     1861 cagagaccat ccggagcttg aggaagtcct ttgccagcct cttttcagat tagctcttca
     1921 gacacacggg gcacccagcc caaccgggaa aggcatctaa gacattcacc aacaacagtc
     1981 agccagcttg gtggttatgt cccatgacct tgacgtgtgt ggtcccttcc tctgctctgt
     2041 tgtactaagt gatgttgtgc agcccagaaa ggaccatttg acagtctcag ggcaggtgcc
     2101 tacccagcaa ggggtacctg gcatcagaga ggaaagagct gcttccctgt agtcatgaga
     2161 gcttccttct gaagtcatcg ttcgctgtga gtttagtggc cttattgtga cagtgccatc
     2221 atgtcttatt cttccctgtg aaaccaggat taatcgtgga ctcctggcag cttaacctag
     2281 ctcagttgca gtgctaagca tgccccgccc ccattcagtg atacctgttt gggaagtata
     2341 tacttcccca aaagtactct tggccctaag ttttaggaac tttccccgac ctggatccct
     2401 tgtcatacct gtgttactgt ttaaagcaca cccacccaac ttacaagatc ttaggctgct
     2461 gtggtggtga agcaccttga gtctgctgat attcgggaga acaaggatct gcagtttccc
     2521 cttttctccc ctctgaagag tggttcttat gtgcaatctg cagtaacctt gaactccaga
     2581 gctgcactat agaggagaat gcatgccact atgacagcag tatgccaagc tttgtgttca
     2641 tctcctaata aacgttaaga cctttggtgt aataaaagca gcagcattca ccaacatttg
     2701 attcagccat gaggtcttga ccccttggcc accctttagg ctgagagagt gtccatgagg
     2761 ggtgtgtgtg tgtgtgtgct tgagtgtagg gagtgaaaaa tctaggtgtg tgaagctgtt
     2821 tgtgtcagtt tgtgtgtgtg actgcaggtg tacatgtgtt tgcaagtgtt tgagaatgtg
     2881 tctgtccttt acataccact tctgggcctc ctcgcacctc cccagtgaat ctgtctcctc
     2941 caagacacct agccttcctt cagcaactca gcgtttctac ctatattacg gactttgtaa
     3001 cctttcaaat aagcacagaa cccttgctcc cggaggagtc aatttagact cacttgcctg
     3061 gtctatcatc aagctcctca gctgaggccc acatggtggt gccaatgagg ctggaccaac
     3121 ctgctctgac aaccaggctc ccacagatct caacgaaggc atcctaaaga ggcctgcaat
     3181 tgagggtggg ctctgaggga tttcactctg gctgcttcat gactccctga tactcaagta
     3241 tattttccca aagaccacgg atgctgtgaa gataaacact acatctgcac caataaaaaa
     3301 tccatatatt aaaatgttaa
//
