LOCUS       NM_003054               3831 bp    mRNA    linear   PRI 15-DEC-2024
DEFINITION  Homo sapiens solute carrier family 18 member A2 (SLC18A2), mRNA.
ACCESSION   NM_003054
VERSION     NM_003054.6
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 3831)
  AUTHORS   Im,D., Jormakka,M., Juge,N., Kishikawa,J.I., Kato,T., Sugita,Y.,
            Noda,T., Uemura,T., Shiimura,Y., Miyaji,T., Asada,H. and Iwata,S.
  TITLE     Neurotransmitter recognition by human vesicular monoamine
            transporter 2
  JOURNAL   Nat Commun 15 (1), 7661 (2024)
   PUBMED   39284862
  REMARK    GeneRIF: Neurotransmitter recognition by human vesicular monoamine
            transporter 2.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3831)
  AUTHORS   Wu,D., Chen,Q., Yu,Z., Huang,B., Zhao,J., Wang,Y., Su,J., Zhou,F.,
            Yan,R., Li,N., Zhao,Y. and Jiang,D.
  TITLE     Transport and inhibition mechanisms of human VMAT2
  JOURNAL   Nature 626 (7998), 427-434 (2024)
   PUBMED   38081299
  REMARK    GeneRIF: Transport and inhibition mechanisms of human VMAT2.
REFERENCE   3  (bases 1 to 3831)
  AUTHORS   Wang,Y., Zhang,P., Chao,Y., Zhu,Z., Yang,C., Zhou,Z., Li,Y.,
            Long,Y., Liu,Y., Li,D., Wang,S. and Qu,Q.
  TITLE     Transport and inhibition mechanism for VMAT2-mediated synaptic
            vesicle loading of monoamines
  JOURNAL   Cell Res 34 (1), 47-57 (2024)
   PUBMED   38163846
  REMARK    GeneRIF: Transport and inhibition mechanism for VMAT2-mediated
            synaptic vesicle loading of monoamines.
REFERENCE   4  (bases 1 to 3831)
  AUTHORS   Saida,K., Maroofian,R., Sengoku,T., Mitani,T., Pagnamenta,A.T.,
            Marafi,D., Zaki,M.S., O'Brien,T.J., Karimiani,E.G., Kaiyrzhanov,R.,
            Takizawa,M., Ohori,S., Leong,H.Y., Akay,G., Galehdari,H.,
            Zamani,M., Romy,R., Carroll,C.J., Toosi,M.B., Ashrafzadeh,F.,
            Imannezhad,S., Malek,H., Ahangari,N., Tomoum,H., Gowda,V.K.,
            Srinivasan,V.M., Murphy,D., Dominik,N., Elbendary,H.M., Rafat,K.,
            Yilmaz,S., Kanmaz,S., Serin,M., Krishnakumar,D., Gardham,A.,
            Maw,A., Rao,T.S., Alsubhi,S., Srour,M., Buhas,D., Jewett,T.,
            Goldberg,R.E., Shamseldin,H., Frengen,E., Misceo,D., Stromme,P.,
            Magliocco Ceroni,J.R., Kim,C.A., Yesil,G., Sengenc,E., Guler,S.,
            Hull,M., Parnes,M., Aktas,D., Anlar,B., Bayram,Y., Pehlivan,D.,
            Posey,J.E., Alavi,S., Madani Manshadi,S.A., Alzaidan,H.,
            Al-Owain,M., Alabdi,L., Abdulwahab,F., Sekiguchi,F., Hamanaka,K.,
            Fujita,A., Uchiyama,Y., Mizuguchi,T., Miyatake,S., Miyake,N.,
            Elshafie,R.M., Salayev,K., Guliyeva,U., Alkuraya,F.S.,
            Gleeson,J.G., Monaghan,K.G., Langley,K.G., Yang,H., Motavaf,M.,
            Safari,S., Alipour,M., Ogata,K., Brown,A.E.X., Lupski,J.R.,
            Houlden,H. and Matsumoto,N.
  TITLE     Brain monoamine vesicular transport disease caused by homozygous
            SLC18A2 variants: A study in 42 affected individuals
  JOURNAL   Genet Med 25 (1), 90-102 (2023)
   PUBMED   36318270
  REMARK    GeneRIF: Brain monoamine vesicular transport disease caused by
            homozygous SLC18A2 variants: A study in 42 affected individuals.
REFERENCE   5  (bases 1 to 3831)
  AUTHORS   Pucci,A., Bacca,A., Barravecchia,I., Di Stefano,I., Belgio,B.,
            Lorenzini,D., Torregrossa,L., Chiacchio,S., Congregati,C.,
            Materazzi,G., Ferrari,M., Angeloni,D., Bernini,G. and Basolo,F.
  TITLE     Sclerosing Paragangliomas: Correlations of Histological Features
            with Patients' Genotype and Vesicular Monoamine Transporter
            Expression
  JOURNAL   Head Neck Pathol 16 (4), 998-1011 (2022)
   PUBMED   35524772
  REMARK    GeneRIF: Sclerosing Paragangliomas: Correlations of Histological
            Features with Patients' Genotype and Vesicular Monoamine
            Transporter Expression.
REFERENCE   6  (bases 1 to 3831)
  AUTHORS   Henry,J.P., Botton,D., Sagne,C., Isambert,M.F., Desnos,C.,
            Blanchard,V., Raisman-Vozari,R., Krejci,E., Massoulie,J. and
            Gasnier,B.
  TITLE     Biochemistry and molecular biology of the vesicular monoamine
            transporter from chromaffin granules
  JOURNAL   J Exp Biol 196, 251-262 (1994)
   PUBMED   7823026
  REMARK    Review article
REFERENCE   7  (bases 1 to 3831)
  AUTHORS   Erickson,J.D. and Eiden,L.E.
  TITLE     Functional identification and molecular cloning of a human brain
            vesicle monoamine transporter
  JOURNAL   J Neurochem 61 (6), 2314-2317 (1993)
   PUBMED   8245983
REFERENCE   8  (bases 1 to 3831)
  AUTHORS   Peter,D., Finn,J.P., Klisak,I., Liu,Y., Kojis,T., Heinzmann,C.,
            Roghani,A., Sparkes,R.S. and Edwards,R.H.
  TITLE     Chromosomal localization of the human vesicular amine transporter
            genes
  JOURNAL   Genomics 18 (3), 720-723 (1993)
   PUBMED   7905859
REFERENCE   9  (bases 1 to 3831)
  AUTHORS   Surratt,C.K., Persico,A.M., Yang,X.D., Edgar,S.R., Bird,G.S.,
            Hawkins,A.L., Griffin,C.A., Li,X., Jabs,E.W. and Uhl,G.R.
  TITLE     A human synaptic vesicle monoamine transporter cDNA predicts
            posttranslational modifications, reveals chromosome 10 gene
            localization and identifies TaqI RFLPs
  JOURNAL   FEBS Lett 318 (3), 325-330 (1993)
   PUBMED   8095030
REFERENCE   10 (bases 1 to 3831)
  AUTHORS   Lesch,K.P., Gross,J., Wolozin,B.L., Murphy,D.L. and Riederer,P.
  TITLE     Extensive sequence divergence between the human and rat brain
            vesicular monoamine transporter: possible molecular basis for
            species differences in the susceptibility to MPP+
  JOURNAL   J Neural Transm Gen Sect 93 (1), 75-82 (1993)
   PUBMED   8373557
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB458870.1, L23205.1,
            AL391988.14 and BQ416859.1.
            
            On Nov 23, 2018 this sequence version replaced NM_003054.5.
            
            Summary: This gene encodes an transmembrane protein that functions
            as an ATP-dependent transporter of monoamines, such as dopamine,
            norepinephrine, serotonin, and histamine. This protein transports
            amine neurotransmitters into synaptic vesicles. Polymorphisms in
            this gene may be associated with schizophrenia, bipolar disorder,
            and other neurological/psychiatric ailments. [provided by RefSeq,
            Jun 2018].
            
            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 :: SRR1803617.68719.1,
                                           SRR1803615.245761.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644641.2/ ENSP00000496339.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 DB458870.1         42-50
            10-1809             L23205.1           1-1800
            1810-3418           AL391988.14        35025-36633
            3419-3831           BQ416859.1         14-426              c
FEATURES             Location/Qualifiers
     source          1..3831
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     gene            1..3831
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /note="solute carrier family 18 member A2"
                     /db_xref="GeneID:6571"
                     /db_xref="HGNC:HGNC:10935"
                     /db_xref="MIM:193001"
     exon            1..107
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            108..243
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             123..1667
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /note="vesicle monoamine/H+ antiporter; monoamine
                     neurotransmitter transporter; vesicle monoamine
                     transporter type 2; vesicular amine transporter 2; solute
                     carrier family 18 (vesicular monoamine transporter),
                     member 2; synaptic vesicle monoamine transporter, brain;
                     synaptic vesicle amine transporter, brain; vesicular
                     monoamine transporter 2"
                     /codon_start=1
                     /product="synaptic vesicular amine transporter"
                     /protein_id="NP_003045.2"
                     /db_xref="CCDS:CCDS7599.1"
                     /db_xref="GeneID:6571"
                     /db_xref="HGNC:HGNC:10935"
                     /db_xref="MIM:193001"
                     /translation="MALSELALVRWLQESRRSRKLILFIVFLALLLDNMLLTVVVPII
                     PSYLYSIKHEKNATEIQTARPVHTASISDSFQSIFSYYDNSTMVTGNATRDLTLHQTA
                     TQHMVTNASAVPSDCPSEDKDLLNENVQVGLLFASKATVQLITNPFIGLLTNRIGYPI
                     PIFAGFCIMFVSTIMFAFSSSYAFLLIARSLQGIGSSCSSVAGMGMLASVYTDDEERG
                     NVMGIALGGLAMGVLVGPPFGSVLYEFVGKTAPFLVLAALVLLDGAIQLFVLQPSRVQ
                     PESQKGTPLTTLLKDPYILIAAGSICFANMGIAMLEPALPIWMMETMCSRKWQLGVAF
                     LPASISYLIGTNIFGILAHKMGRWLCALLGMIIVGVSILCIPFAKNIYGLIAPNFGVG
                     FAIGMVDSSMMPIMGYLVDLRHVSVYGSVYAIADVAFCMGYAIGPSAGGAIAKAIGFP
                     WLMTIIGIIDILFAPLCFFLRSPPAKEEKMAILMDHNCPIKTKMYTQNNIQSYPIGED
                     EESESD"
     exon            244..586
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            587..645
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            646..729
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            730..822
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            823..912
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            913..956
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1017
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1113
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1192
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1244
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1308
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1428
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..1562
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1563..3831
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3812..3817
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /note="hexamer: AATAAA"
     polyA_site      3831
                     /gene="SLC18A2"
                     /gene_synonym="PKDYS2; SVAT; SVMT; VAT2; VMAT2"
                     /note="major polyA site"
ORIGIN      
        1 ggggcggaga ctgcgacccg gagccgcccg gactgacgga gcccactgcg gtgcgggcgt
       61 tggcgcgggc acggaggacc cgggcaggca tcgcaagcga ccccgagcgg agccccggag
      121 ccatggccct gagcgagctg gcgctggtcc gctggctgca ggagagccgc cgctcgcgga
      181 agctcatcct gttcatcgtg ttcctggcgc tgctgctgga caacatgctg ctcactgtcg
      241 tggtccccat catcccaagt tatctgtaca gcattaagca tgagaagaat gctacagaaa
      301 tccagacggc caggccagtg cacactgcct ccatctcaga cagcttccag agcatcttct
      361 cctattatga taactcgact atggtcaccg ggaatgctac cagagacctg acacttcatc
      421 agaccgccac acagcacatg gtgaccaacg cgtccgctgt tccttccgac tgtcccagtg
      481 aagacaaaga cctcctgaat gaaaacgtgc aagttggtct gttgtttgcc tcgaaagcca
      541 ccgtccagct catcaccaac cctttcatag gactactgac caacagaatt ggctatccaa
      601 ttcccatatt tgcgggattc tgcatcatgt ttgtctcaac aattatgttt gccttctcca
      661 gcagctatgc cttcctgctg attgccaggt cgctgcaggg catcggctcg tcctgctcct
      721 ctgtggctgg gatgggcatg cttgccagtg tctacacaga tgatgaagag agaggcaacg
      781 tcatgggaat cgccttggga ggcctggcca tgggggtctt agtgggcccc cccttcggga
      841 gtgtgctcta tgagtttgtg gggaagacgg ctccgttcct ggtgctggcc gccctggtac
      901 tcttggatgg agctattcag ctctttgtgc tccagccgtc ccgggtgcag ccagagagtc
      961 agaaggggac acccctaacc acgctgctga aggacccgta catcctcatt gctgcaggct
     1021 ccatctgctt tgcaaacatg ggcatcgcca tgctggagcc agccctgccc atctggatga
     1081 tggagaccat gtgttcccga aagtggcagc tgggcgttgc cttcttgcca gctagtatct
     1141 cttatctcat tggaaccaat atttttggga tacttgcaca caaaatgggg aggtggcttt
     1201 gtgctcttct gggaatgata attgttggag tcagcatttt atgtattcca tttgcaaaaa
     1261 acatttatgg actcatagct ccgaactttg gagttggttt tgcaattgga atggtggatt
     1321 cgtcaatgat gcctatcatg ggctacctcg tagacctgcg gcacgtgtcc gtctatggga
     1381 gtgtgtacgc cattgcggat gtggcatttt gtatggggta tgctataggt ccttctgctg
     1441 gtggtgctat tgcaaaggca attggatttc catggctcat gacaattatt gggataattg
     1501 atattctttt tgcccctctc tgcttttttc ttcgaagtcc acctgccaaa gaagaaaaaa
     1561 tggctattct catggatcac aactgcccta ttaaaacaaa aatgtacact cagaataata
     1621 tccagtcata tccgataggt gaagatgaag aatctgaaag tgactgagat gagatcctca
     1681 aaaatcatca aagtgtttaa ttgtataaaa cagtgtttcc agtgacacaa ctcatccaga
     1741 actgtcttag tcataccatc catccctggt gaaagagtaa aaccaaaggt tattatttcc
     1801 tttccatggt tatggtcgat tgccaacagc cttataaaga aaaagaagct tttctagggg
     1861 tttgtataaa tagtgttgaa actttatttt atgtatttaa ttttattaaa tatcatacaa
     1921 tatattttga tgaaataggt attgtgtaaa tctataaata tttgaatcca aaccaaatat
     1981 aattttttaa cttacattaa caaacatttg ggcaaaaatc atattggtaa tgagtgttta
     2041 aaattaaagc acacattatc tctgagactc ttccaacaaa gagaaactag aatgaagtct
     2101 gaaaaacaga atcaagtaag acagcatgtt atatagtgac actgaatgtt atttaacttg
     2161 tagttactat caatatattt atgcgttaaa cagctagttc tctcaagtgt agaggacaag
     2221 aacttgtgtc agttatcttt tgaatccata aatcttagct ggcattagtt ttctatgtaa
     2281 tcacctacct agagagagtt gtaaattata tgttaacatg ttatctggtt ggcagcaaac
     2341 actaaagcca ataaaggaaa aacagtaaat gttccgaaag cagagaaaag caaccaaaca
     2401 tattgttatg aactaaaagc tttcccttta agatgcatac ttgtcttact ggatgaagaa
     2461 aattgagggt acatgtacct tatactgtca aggttgttta aacatgataa ggttaatcgc
     2521 catctacttc aagttttaga aaaggaaaca agaagctgaa aacagctgct ctgactttaa
     2581 tatctgacta tatctttgat ctgtttgcag gtcatccaag tgttttctag gaatatattt
     2641 attttaggtt gtctgaaact actatttttt agactcctga aagttgttca catcaatgtg
     2701 aagacaaatt ttaaatgaaa atgaagaatg aaattatgtc ttgaatcata tattaagaag
     2761 taaaaataat agtgatcagg cagaaaagaa aaatggaaca tctaaaaatg tatgtgctaa
     2821 ctatatcatc cagtgtgcag tgttgtgtat ttttctaagc atgacaacat tgatgtgcct
     2881 tttcagtgta acagcaaata ctgttagtga acattgtcaa tttatgtcat tttgttaaga
     2941 gatatgactg gagtgtgcag tgtggaatgt ctctaatact acttgtgaat cctgcagttc
     3001 tataatcata aacaaaaatt acttagtttc gttaagctaa gattgtgttt gtgttaactt
     3061 cgacatcaag gagcaaagaa ctttagaaca gactcctcaa tcttgtgact ttcttattct
     3121 ctaggaaagt aacacttcgt ttcatgaagc ttttctgtgg ggcttcgatt atttcaagtc
     3181 tggtttctaa gtgcagtgtg tttgaagcaa acgaacttcc aactcactta tttggcattg
     3241 ggcaacttgg ccaagtctgc cactttggaa gatggctctg gaggaaactc tcatatggct
     3301 aaaaaggcag gctagtttct tacttctaca ggggtagagc cttaaaaaag aacgtgctac
     3361 aaattggttc tctttgaggg tttctggttc tccctgcccc caataccata tactttattg
     3421 caattttatt tttgccttta cggctctgtg tctttctgca agaaggcctg gcaaaggtat
     3481 gcctgctgtt ggtccctcgg gataagataa aatataaata aaaccttcag aactgttttg
     3541 gagcaaaaga tagcttgtac ttggggaaaa aaattctaag ttcttttata tgactaatat
     3601 tcttggttag caagactgga aagaggtgtt tttttaaaat gtacatacca gaacaaagaa
     3661 catacagctc tctgaacatt tattttttga acagaggtgg tttttatgtt tggacctggt
     3721 aatacagata caaaaacttt aatgaggtag caatgaatat tcaactgttt gactgctaag
     3781 tgtatctgtc catattttag caagtttact taataaatct tctgaaccat g
//
