LOCUS       NP_796376                419 aa            linear   PRI 08-OCT-2024
DEFINITION  synaptotagmin-2 [Homo sapiens].
ACCESSION   NP_796376 XP_001723513 XP_001725260 XP_001726849
VERSION     NP_796376.2
DBSOURCE    REFSEQ: accession NM_177402.5
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  (residues 1 to 419)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (residues 1 to 419)
  AUTHORS   Mironovich,O., Dadali,E., Malmberg,S., Markova,T., Ryzhkova,O. and
            Poliakov,A.
  TITLE     Identification of a Novel de Novo Variant in the SYT2 Gene Causing
            a Rare Type of Distal Hereditary Motor Neuropathy
  JOURNAL   Genes (Basel) 11 (11), 1238 (2020)
   PUBMED   33105646
  REMARK    GeneRIF: Identification of a Novel de Novo Variant in the SYT2 Gene
            Causing a Rare Type of Distal Hereditary Motor Neuropathy.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 419)
  AUTHORS   Donkervoort,S., Mohassel,P., Laugwitz,L., Zaki,M.S., Kamsteeg,E.J.,
            Maroofian,R., Chao,K.R., Verschuuren-Bemelmans,C.C., Horber,V.,
            Fock,A.J.M., McCarty,R.M., Jain,M.S., Biancavilla,V., McMacken,G.,
            Nalls,M., Voermans,N.C., Elbendary,H.M., Snyder,M., Cai,C.,
            Lehky,T.J., Stanley,V., Iannaccone,S.T., Foley,A.R., Lochmuller,H.,
            Gleeson,J., Houlden,H., Haack,T.B., Horvath,R. and Bonnemann,C.G.
  TITLE     Biallelic loss of function variants in SYT2 cause a treatable
            congenital onset presynaptic myasthenic syndrome
  JOURNAL   Am J Med Genet A 182 (10), 2272-2283 (2020)
   PUBMED   32776697
  REMARK    GeneRIF: Biallelic loss of function variants in SYT2 cause a
            treatable congenital onset presynaptic myasthenic syndrome.
REFERENCE   4  (residues 1 to 419)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 419)
  AUTHORS   Herrmann,D.N., Horvath,R., Sowden,J.E., Gonzalez,M.,
            Sanchez-Mejias,A., Guan,Z., Whittaker,R.G., Almodovar,J.L.,
            Lane,M., Bansagi,B., Pyle,A., Boczonadi,V., Lochmuller,H.,
            Griffin,H., Chinnery,P.F., Lloyd,T.E., Littleton,J.T. and
            Zuchner,S.
  TITLE     Synaptotagmin 2 mutations cause an autosomal-dominant form of
            lambert-eaton myasthenic syndrome and nonprogressive motor
            neuropathy
  JOURNAL   Am J Hum Genet 95 (3), 332-339 (2014)
   PUBMED   25192047
  REMARK    GeneRIF: Synaptotagmin 2 mutations cause an autosomal-dominant form
            of lambert-eaton myasthenic syndrome and nonprogressive motor
            neuropathy.
            Erratum:[Am J Hum Genet. 2014 Oct 2;95(4):472. Gonzales, Michael
            [corrected to Gonzalez, Michael]]
REFERENCE   6  (residues 1 to 419)
  AUTHORS   Jones,J.M., Popma,S.J., Mizuta,M., Seino,S. and Meisler,M.H.
  TITLE     Synaptotagmin genes on mouse chromosomes 1, 7, and 10 and human
            chromosome 19
  JOURNAL   Mamm Genome 6 (3), 212-213 (1995)
   PUBMED   7749232
REFERENCE   7  (residues 1 to 419)
  AUTHORS   Fukuda,M., Aruga,J., Niinobe,M., Aimoto,S. and Mikoshiba,K.
  TITLE     Inositol-1,3,4,5-tetrakisphosphate binding to C2B domain of
            IP4BP/synaptotagmin II
  JOURNAL   J Biol Chem 269 (46), 29206-29211 (1994)
   PUBMED   7961887
REFERENCE   8  (residues 1 to 419)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
REFERENCE   9  (residues 1 to 419)
  AUTHORS   Geppert,M., Archer,B.T. 3rd and Sudhof,T.C.
  TITLE     Synaptotagmin II. A novel differentially distributed form of
            synaptotagmin
  JOURNAL   J Biol Chem 266 (21), 13548-13552 (1991)
   PUBMED   1856191
REFERENCE   10 (residues 1 to 419)
  AUTHORS   Blaustein,R.O., Germann,W.J., Finkelstein,A. and DasGupta,B.R.
  TITLE     The N-terminal half of the heavy chain of botulinum type A
            neurotoxin forms channels in planar phospholipid bilayers
  JOURNAL   FEBS Lett 226 (1), 115-120 (1987)
   PUBMED   2446925
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104463.3, DA098279.1,
            BC100815.1 and AC118556.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Mar 17, 2009 this sequence version replaced
            XP_001725260.1, XP_001726849.1, XP_001723513.1, NP_796376.1.
            
            Summary: This gene encodes a synaptic vesicle membrane protein. The
            encoded protein is thought to function as a calcium sensor in
            vesicular trafficking and exocytosis. Mutations in this gene are
            associated with myasthenic syndrome, presynaptic, congenital, with
            or without motor neuropathy. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (1) represents the more prevalent
            variant. Both variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by 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 :: SRR1803617.123156.1,
                                           SRR1660805.72270.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162841, SAMN03465402
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367268.5/ ENSP00000356237.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..419
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..419
                     /product="synaptotagmin-2"
                     /note="synaptotagmin II"
                     /calculated_mol_wt=46741
     Region          4..113
                     /region_name="Syt2_N"
                     /note="N-terminal domain of synaptotagmin-2 (Syt2) and
                     similar proteins; cd21964"
                     /db_xref="CDD:409249"
     Region          16..39
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9I0.2)"
     Site            29
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N9I0.2)"
     Site            order(44,47..48,50..52,54..55)
                     /site_type="other"
                     /note="Botolinum neurotoxin B binding site [polypeptide
                     binding]"
                     /db_xref="CDD:409249"
     Site            63..83
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9I0.2)"
     Region          99..138
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9I0.2)"
     Site            122
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P29101; propagated from
                     UniProtKB/Swiss-Prot (Q8N9I0.2)"
     Site            125
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P46097; propagated from
                     UniProtKB/Swiss-Prot (Q8N9I0.2)"
     Region          133..379
                     /region_name="Phospholipid binding. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N9I0.2)"
     Region          139..261
                     /region_name="C2A_Synaptotagmin-1-5-6-9-10"
                     /note="C2A domain first repeat present in Synaptotagmins
                     1, 5, 6, 9, and 10; cd08385"
                     /db_xref="CDD:176031"
     Site            order(170,176,228,230,236)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176031"
     Site            199
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P29101; propagated from
                     UniProtKB/Swiss-Prot (Q8N9I0.2)"
     Site            227
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P46097; propagated from
                     UniProtKB/Swiss-Prot (Q8N9I0.2)"
     Region          271..406
                     /region_name="C2B_Synaptotagmin-1"
                     /note="C2 domain second repeat present in Synaptotagmin 1;
                     cd08402"
                     /db_xref="CDD:176047"
     Site            order(301,307,361,363,369)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:176047"
     Site            383
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P29101; propagated from
                     UniProtKB/Swiss-Prot (Q8N9I0.2)"
     CDS             1..419
                     /gene="SYT2"
                     /gene_synonym="CMS7; CMS7A; CMS7B; MYSPC; SytII"
                     /coded_by="NM_177402.5:215..1474"
                     /db_xref="CCDS:CCDS1427.1"
                     /db_xref="GeneID:127833"
                     /db_xref="HGNC:HGNC:11510"
                     /db_xref="MIM:600104"
ORIGIN      
        1 mrnifkrnqe pivapattta tmpigpvdns tesggagesq edmfaklkek lfneinkipl
       61 ppwaliaiav vaglllltcc fcickkccck kkknkkekgk gmknamnmkd mkggqdddda
      121 etgltegege geeekepenl gklqfsldyd fqanqltvgv lqaaelpald mggtsdpyvk
      181 vfllpdkkkk yetkvhrktl npafnetftf kvpyqelggk tlvmaiydfd rfskhdiige
      241 vkvpmntvdl gqpieewrdl qggekeepek lgdictslry vptagkltvc ileaknlkkm
      301 dvgglsdpyv kihlmqngkr lkkkkttvkk ktlnpyfnes fsfeipfeqi qkvqvvvtvl
      361 dydklgknea igkifvgsna tgtelrhwsd mlanprrpia qwhslkpeee vdallgknk
//
