LOCUS       NM_014849               4378 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), transcript
            variant 1, mRNA.
ACCESSION   NM_014849
VERSION     NM_014849.5
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 4378)
  AUTHORS   Wang,X., Zhang,X., Liu,J., Zhang,J., Liu,C., Cui,Y., Song,Q.,
            Hou,Y., Wang,Y., Zhang,Q., Zhang,Y., Fan,Y., Jia,J. and Wang,P.
  TITLE     Synaptic vesicle glycoprotein 2 A in serum is an ideal biomarker
            for early diagnosis of Alzheimer's disease
  JOURNAL   Alzheimers Res Ther 16 (1), 82 (2024)
   PUBMED   38615037
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4378)
  AUTHORS   Al-Maawali,A., Al-Murshedi,F., Al-Futaisi,A., Mansy,A., Al-Habsi,A.
            and Girisha,K.M.
  TITLE     Biallelic variants in the synaptic vesicle glycoprotein 2 A are
            associated with epileptic encephalopathy
  JOURNAL   Eur J Hum Genet 32 (2), 243-246 (2024)
   PUBMED   37985816
  REMARK    GeneRIF: Biallelic variants in the synaptic vesicle glycoprotein 2
            A are associated with epileptic encephalopathy.
REFERENCE   3  (bases 1 to 4378)
  AUTHORS   Yoon,J.H., Zhang,Z., Mormino,E., Davidzon,G., Minzenberg,M.J.,
            Ballon,J., Kalinowski,A., Hardy,K., Naganawa,M., Carson,R.E.,
            Khalighi,M., Park,J.H., Levinson,D.F. and Chin,F.T.
  TITLE     Reductions in synaptic marker SV2A in early-course Schizophrenia
  JOURNAL   J Psychiatr Res 161, 213-217 (2023)
   PUBMED   36934603
  REMARK    GeneRIF: Reductions in synaptic marker SV2A in early-course
            Schizophrenia.
REFERENCE   4  (bases 1 to 4378)
  AUTHORS   Yu,H., Han,Y., Cui,C., Li,G. and Zhang,B.
  TITLE     Loss of SV2A promotes human neural stem cell apoptosis via p53
            signaling
  JOURNAL   Neurosci Lett 800, 137125 (2023)
   PUBMED   36780942
  REMARK    GeneRIF: Loss of SV2A promotes human neural stem cell apoptosis via
            p53 signaling.
REFERENCE   5  (bases 1 to 4378)
  AUTHORS   Badura-Stronka,M., Kuszel,L., Wencel-Warot,A., Cudnoch,K.,
            Wolynska,K., Rutkowska,K., Steinborn,B. and Ploski,R.
  TITLE     Broadening the phenotypic spectrum of the presumably
            epilepsy-related SV2A gene variants
  JOURNAL   Epilepsy Res 190, 107101 (2023)
   PUBMED   36758444
  REMARK    GeneRIF: Broadening the phenotypic spectrum of the presumably
            epilepsy-related SV2A gene variants.
REFERENCE   6  (bases 1 to 4378)
  AUTHORS   Lynch,B.A., Lambeng,N., Nocka,K., Kensel-Hammes,P., Bajjalieh,S.M.,
            Matagne,A. and Fuks,B.
  TITLE     The synaptic vesicle protein SV2A is the binding site for the
            antiepileptic drug levetiracetam
  JOURNAL   Proc Natl Acad Sci U S A 101 (26), 9861-9866 (2004)
   PUBMED   15210974
REFERENCE   7  (bases 1 to 4378)
  AUTHORS   Son,Y.J., Scranton,T.W., Sunderland,W.J., Baek,S.J., Miner,J.H.,
            Sanes,J.R. and Carlson,S.S.
  TITLE     The synaptic vesicle protein SV2 is complexed with an
            alpha5-containing laminin on the nerve terminal surface
  JOURNAL   J Biol Chem 275 (1), 451-460 (2000)
   PUBMED   10617638
REFERENCE   8  (bases 1 to 4378)
  AUTHORS   Crowder,K.M., Gunther,J.M., Jones,T.A., Hale,B.D., Zhang,H.Z.,
            Peterson,M.R., Scheller,R.H., Chavkin,C. and Bajjalieh,S.M.
  TITLE     Abnormal neurotransmission in mice lacking synaptic vesicle protein
            2A (SV2A)
  JOURNAL   Proc Natl Acad Sci U S A 96 (26), 15268-15273 (1999)
   PUBMED   10611374
REFERENCE   9  (bases 1 to 4378)
  AUTHORS   Bajjalieh,S.M., Peterson,K., Linial,M. and Scheller,R.H.
  TITLE     Brain contains two forms of synaptic vesicle protein 2
  JOURNAL   Proc Natl Acad Sci U S A 90 (6), 2150-2154 (1993)
   PUBMED   7681585
REFERENCE   10 (bases 1 to 4378)
  AUTHORS   Bajjalieh,S.M., Peterson,K., Shinghal,R. and Scheller,R.H.
  TITLE     SV2, a brain synaptic vesicle protein homologous to bacterial
            transporters
  JOURNAL   Science 257 (5074), 1271-1273 (1992)
   PUBMED   1519064
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC034038.1 and AB018279.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014849.4.
            
            Summary: The protein encoded by this gene is one of three related
            synaptic vesicle proteins. The encoded protein may interact with
            synaptotagmin to enhance low frequency neurotransmission in
            quiescent neurons. [provided by RefSeq, Jun 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1, 3, and 4
            all encode the same 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 :: BC034038.1, AB018279.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369146.8/ ENSP00000358142.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                BC034038.1         39-57
            20-4372             AB018279.1         1-4353
            4373-4378           BC034038.1         4410-4415
FEATURES             Location/Qualifiers
     source          1..4378
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..4378
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /note="synaptic vesicle glycoprotein 2A"
                     /db_xref="GeneID:9900"
                     /db_xref="HGNC:HGNC:20566"
                     /db_xref="MIM:185860"
     exon            1..106
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     exon            107..1075
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     CDS             454..2682
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     solute carrier family 22 member B1"
                     /codon_start=1
                     /product="synaptic vesicle glycoprotein 2A isoform 1"
                     /protein_id="NP_055664.3"
                     /db_xref="CCDS:CCDS940.1"
                     /db_xref="GeneID:9900"
                     /db_xref="HGNC:HGNC:20566"
                     /db_xref="MIM:185860"
                     /translation="MEEGFRDRAAFIRGAKDIAKEVKKHAAKKVVKGLDRVQDEYSRR
                     SYSRFEEEDDDDDFPAPSDGYYRGEGTQDEEEGGASSDATEGHDEDDEIYEGEYQGIP
                     RAESGGKGERMADGAPLAGVRGGLSDGEGPPGGRGEAQRRKEREELAQQYEAILRECG
                     HGRFQWTLYFVLGLALMADGVEVFVVGFVLPSAEKDMCLSDSNKGMLGLIVYLGMMVG
                     AFLWGGLADRLGRRQCLLISLSVNSVFAFFSSFVQGYGTFLFCRLLSGVGIGGSIPIV
                     FSYFSEFLAQEKRGEHLSWLCMFWMIGGVYAAAMAWAIIPHYGWSFQMGSAYQFHSWR
                     VFVLVCAFPSVFAIGALTTQPESPRFFLENGKHDEAWMVLKQVHDTNMRAKGHPERVF
                     SVTHIKTIHQEDELIEIQSDTGTWYQRWGVRALSLGGQVWGNFLSCFGPEYRRITLMM
                     MGVWFTMSFSYYGLTVWFPDMIRHLQAVDYASRTKVFPGERVEHVTFNFTLENQIHRG
                     GQYFNDKFIGLRLKSVSFEDSLFEECYFEDVTSSNTFFRNCTFINTVFYNTDLFEYKF
                     VNSRLINSTFLHNKEGCPLDVTGTGEGAYMVYFVSFLGTLAVLPGNIVSALLMDKIGR
                     LRMLAGSSVMSCVSCFFLSFGNSESAMIALLCLFGGVSIASWNALDVLTVELYPSDKR
                     TTAFGFLNALCKLAAVLGISIFTSFVGITKAAPILFASAALALGSSLALKLPETRGQV
                     LQ"
     exon            1076..1256
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..1408
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..1542
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     exon            1543..1632
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     exon            1633..1743
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..1832
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     exon            1833..1997
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     exon            1998..2131
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     exon            2132..2338
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     exon            2339..2498
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     exon            2499..4378
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4346..4351
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /note="hexamer: AATAAA"
     regulatory      4357..4362
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /note="hexamer: AACAAA"
     polyA_site      4373
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
     polyA_site      4378
                     /gene="SV2A"
                     /gene_synonym="DEE113; SLC22B1; SV2"
                     /note="major polyA site"
ORIGIN      
        1 gcattgccgc ttccctggtg ccgggagcag tcgccgctgc cgcctccgcc cgcggccggg
       61 acccccgtcc tcgcccggga ctccttaccc ggggaaccta gaccaggtct ccagaggctt
      121 gtggaagaga agcaggcgac ccttcctgag ttatcctggc ttagcctccc aatctggctc
      181 cccttcccct tcccattccc ctgctccccc tgtcccttcc ccatccaccc aactgaactg
      241 ggtataggtc aaagctcctc tccttccttt tccttcctag gcactcattg gctaggacct
      301 gtttgctctt ttttttgtgc ccagagatac tggaacacgc ttcatctaag taactgtggg
      361 gaggggtctt tttgactcta caagtccttg agcaaaaagc tgaaaaagaa gcaggaggtg
      421 gagaagaccc agtgaagtgc cccaagcccc atcatggaag agggcttccg agaccgggca
      481 gctttcatcc gtggggccaa agacattgct aaggaagtca aaaagcatgc ggccaagaag
      541 gtggtgaagg gcctggacag agtccaggac gaatattccc gaagatcgta ctcccgcttt
      601 gaggaggagg atgatgatga tgacttccct gctcccagtg atggttatta ccgaggagaa
      661 gggacccagg atgaggagga aggtggtgca tccagtgatg ctactgaggg ccatgacgag
      721 gatgatgaga tctatgaagg ggaatatcag ggcattcccc gggcagagtc tgggggcaaa
      781 ggcgagcgga tggcagatgg ggcgcccctg gctggagtaa gggggggctt gagtgatggg
      841 gagggtcccc ctgggggccg gggggaggca caacgacgga aagaacgaga agaactggcc
      901 caacagtatg aagccatcct acgggagtgt ggccacggcc gcttccagtg gacactgtat
      961 tttgtgcttg gtctggcgct gatggctgac ggtgtggagg tctttgtggt gggcttcgtg
     1021 ctgcccagcg ctgagaaaga catgtgcctg tccgactcca acaaaggcat gctaggcctc
     1081 atcgtctacc tgggcatgat ggtgggagcc ttcctctggg gaggtctggc tgaccggctg
     1141 ggtcggaggc agtgtctgct catctcgctc tcagtcaaca gcgtcttcgc cttcttctca
     1201 tcttttgtcc agggttacgg cactttcctc ttctgccgcc tactttctgg ggttgggatt
     1261 ggagggtcca tccccattgt cttctcctat ttctccgagt ttctggccca ggagaaacga
     1321 ggggagcatt tgagctggct ctgcatgttt tggatgattg gtggcgtgta cgcagctgct
     1381 atggcctggg ccatcatccc ccactatggg tggagttttc agatgggttc tgcctaccag
     1441 ttccacagct ggagggtctt cgtcctcgtc tgcgcctttc cttctgtgtt tgccattggg
     1501 gctctgacca cgcagcctga gagcccccgt ttcttcctag agaatggaaa gcatgatgag
     1561 gcctggatgg tgctgaagca ggtccatgat accaacatgc gagccaaagg acatcctgag
     1621 cgagtgttct cagtaaccca cattaagacg attcatcagg aggatgaatt gattgagatc
     1681 cagtcggaca cagggacctg gtaccagcgc tggggggtcc gggccttgag cctagggggg
     1741 caggtttggg ggaattttct ctcctgtttt ggtcccgaat atcggcgcat cactctgatg
     1801 atgatgggtg tgtggttcac catgtcattc agctactatg gcctgaccgt ctggtttcct
     1861 gacatgatcc gccatctcca ggcagtggac tacgcatccc gcaccaaagt gttccccggg
     1921 gagcgcgtag agcatgtaac ttttaacttc acgttggaga atcagatcca ccgaggcggg
     1981 cagtacttca atgacaagtt cattgggctg cggctcaagt cagtgtcctt tgaggattcc
     2041 ctgtttgaag agtgttattt tgaggatgtc acatccagca acacgttttt ccgcaactgc
     2101 acattcatca acactgtgtt ctataacact gacctgttcg agtacaagtt tgtgaacagc
     2161 cgtctgataa acagtacatt cctgcacaac aaggagggct gcccgctaga cgtgacaggg
     2221 acgggcgaag gtgcctacat ggtatacttt gtgagcttcc tggggacact ggcagtgctt
     2281 cctgggaata tcgtgtctgc cctgctcatg gacaagatcg gcaggctcag aatgcttgct
     2341 ggctccagcg tgatgtcctg tgtctcctgc ttcttcctgt cttttgggaa cagtgagtcg
     2401 gccatgatcg ctctgctctg cctttttggc ggggtcagca ttgcatcctg gaatgcgctg
     2461 gacgtgttga ctgttgaact ctacccctca gacaagagga ccacagcttt tggcttcctg
     2521 aatgccctgt gtaagctggc agctgtgctg gggatcagca tcttcacatc cttcgtggga
     2581 atcaccaagg ctgcacccat cctctttgcc tcagctgccc ttgcccttgg cagctctctg
     2641 gccctgaagc tgcctgagac ccgggggcag gtgctgcagt gaaggggtct ctagggcttt
     2701 gggattggca ggcacactgt gagaccaaca actccttcct tcccctccct gccctgccat
     2761 cctgacctcc agagccctca ctccccactc cccgtgtttg gtgtcttagc tgtgtgtgcg
     2821 tgtgcgtgtg catgtgtgta aaccccgtgg gcagggacta cagggaaggc tccttcatcc
     2881 cagttttgag atgaagctgt actccccatt tcccactgcc cttgactttg cacaagagaa
     2941 ggctgagccc catccttctc cccctgttag agaggggccc ttgcttccct gttccagggg
     3001 ttccagaata ggcttcctgc cttccccatc attccctctg cctaggccct ggtgaaacca
     3061 caggtatgca attatgctag gggctggggc tctggtgtag accatggacc aaaagaactt
     3121 cttagagtct gaagagtggg cctcgggtgc cctctcacat ctcctgttgg atgctggggg
     3181 agaagcaata aacctcagcc ctctggcctc cactttcctc tcaatttggg ctgcaaatat
     3241 gaagcctgaa ttttatgaaa ttagctttct gattcttatt tattaataga ttaagttctg
     3301 aggcagctcc gcaggactgt gtgtgaatgt gtatgtatac ttacatatgt gtgtgcatgt
     3361 gccatggggc ggggggtatc actatactgt cctcaaatat aagccaaggg taatttcagc
     3421 ggatgcacac acaaccctgc ctcccacagt tcctccccta atctggtttc tgtgttgagc
     3481 ctgggatgga ggagccctag gccagcctgg gataagagtc ccacagtcta gggagatctg
     3541 agggcatccg acaaggccca tctccttccc tcctcaagaa gcagaggcct cctctggagt
     3601 gagaggctcc acccactaca gcacaggcgg gaatagcaca gctgccctcc catgctccct
     3661 acctgtcccc tcacagggag gggagcaggg gagggaaaga aaccaggcat ctggtcaaac
     3721 cagcagatca aaaagcacaa agagctgggg cagaggcagg aagcaggggc cctcctggca
     3781 gctcctctga gtggggagag gttgggcagt gagtgaggga cccctaatgc agggactaga
     3841 agcctcagtt tccccatttt acccttccac acaatagcct ctgtaggtta ggctgcccca
     3901 tcccacccta ctctgtgtgg ctgctttctt tggtgccctc ccctcacccc actgtagctg
     3961 tgacgtgttg tagtttttag atgtttgtaa aatgtttaaa aaaatgttaa aaggaaaaaa
     4021 gtgaaaataa caaaaaagaa aatcaaaatt caccttcgtc atgctgcgtc cagtgcccca
     4081 accctgtggt cactctcccc attttgtaac actgtaccag gtggtgactg tttaactctt
     4141 tggtgtctgt gctcaaaaga ctgccttctc cagtgcccag tgtatgagtg tgtgccctgt
     4201 gcccttgtcc ctcactcccc acatgctgga cgtagccctc ttcctcgcac ccctgggagg
     4261 gacccatcca tctcccttgc tctcctgggg aaccctaaac ccaactctgt tgatgtgaaa
     4321 aatgcagtga aaaatattga cgaaaaataa aacggaaaca aatcctcaaa atacaaaa
//
