SYN2_HUMAN
ID SYN2_HUMAN Reviewed; 582 AA.
AC Q92777; A0A087WW96; A0A087X2E3; A8MY98;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 4.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Synapsin-2;
DE AltName: Full=Synapsin II;
GN Name=SYN2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM IIB).
RC TISSUE=Brain;
RX PubMed=8964517; DOI=10.1016/0378-1119(96)00234-x;
RA Xie Y.;
RT "Cloning and sequencing analysis of a human synapsin IIb-encoding brain
RT cDNA.";
RL Gene 173:289-290(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS IIA AND IIB).
RC TISSUE=Brain;
RX PubMed=10565545; DOI=10.3109/10425179909033936;
RA Porton B., Kao H.-T., Greengard P.;
RT "Cloning of cDNAs encoding human synapsins IIa and IIb.";
RL DNA Seq. 10:49-54(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [4]
RP INVOLVEMENT IN SCZD.
RX PubMed=15449241; DOI=10.1086/425588;
RA Chen Q., He G., Qin W., Chen Q.Y., Zhao X.Z., Duan S.W., Liu X.M.,
RA Feng G.Y., Xu Y.F., St Clair D., Li M., Wang J.H., Xing Y.L., Shi J.G.,
RA He L.;
RT "Family-based association study of synapsin II and schizophrenia.";
RL Am. J. Hum. Genet. 75:873-877(2004).
CC -!- FUNCTION: Neuronal phosphoprotein that coats synaptic vesicles, binds
CC to the cytoskeleton, and is believed to function in the regulation of
CC neurotransmitter release. May play a role in noradrenaline secretion by
CC sympathetic neurons (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts with CAPON. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Synapse.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=IIa;
CC IsoId=Q92777-1; Sequence=Displayed;
CC Name=IIb;
CC IsoId=Q92777-2; Sequence=VSP_006320, VSP_006321;
CC -!- TISSUE SPECIFICITY: Central and peripheral nervous systems.
CC -!- DOMAIN: The A region binds phospholipids with a preference for
CC negatively charged species. {ECO:0000250}.
CC -!- PTM: Phosphorylation at Ser-10 dissociates synapsins from synaptic
CC vesicles. Phosphorylation at Ser-425 by MAPK1/ERK2 and/or MAPK3/ERK1
CC may play a role in noradrenaline secretion by sympathetic neurons (By
CC similarity). {ECO:0000250}.
CC -!- DISEASE: Schizophrenia (SCZD) [MIM:181500]: A complex, multifactorial
CC psychotic disorder or group of disorders characterized by disturbances
CC in the form and content of thought (e.g. delusions, hallucinations), in
CC mood (e.g. inappropriate affect), in sense of self and relationship to
CC the external world (e.g. loss of ego boundaries, withdrawal), and in
CC behavior (e.g bizarre or apparently purposeless behavior). Although it
CC affects emotions, it is distinguished from mood disorders in which such
CC disturbances are primary. Similarly, there may be mild impairment of
CC cognitive function, and it is distinguished from the dementias in which
CC disturbed cognitive function is considered primary. Some patients
CC manifest schizophrenic as well as bipolar disorder symptoms and are
CC often given the diagnosis of schizoaffective disorder.
CC {ECO:0000269|PubMed:15449241}. Note=Disease susceptibility may be
CC associated with variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the synapsin family. {ECO:0000305}.
CC -!- CAUTION: There are several mRNAs and ESTs supporting this gene model.
CC However, the genome sequence encoding the N-terminal part contains
CC several sequence discrepancies. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AC022234; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AC022234; Type=Miscellaneous discrepancy; Note=Several in-frame stop codons.; Evidence={ECO:0000305};
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DR EMBL; U40215; AAC50718.1; -; mRNA.
DR EMBL; AF077671; AAC28368.1; -; mRNA.
DR EMBL; AF077737; AAC33789.1; -; mRNA.
DR EMBL; ABBA01025208; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC022234; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC026166; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC091492; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS74900.1; -. [Q92777-1]
DR CCDS; CCDS74901.1; -. [Q92777-2]
DR RefSeq; NP_003169.2; NM_003178.5. [Q92777-2]
DR RefSeq; NP_598328.1; NM_133625.4. [Q92777-1]
DR AlphaFoldDB; Q92777; -.
DR SMR; Q92777; -.
DR BioGRID; 112720; 19.
DR CORUM; Q92777; -.
DR IntAct; Q92777; 8.
DR MINT; Q92777; -.
DR STRING; 9606.ENSP00000480050; -.
DR GlyGen; Q92777; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q92777; -.
DR PhosphoSitePlus; Q92777; -.
DR BioMuta; SYN2; -.
DR DMDM; 223634710; -.
DR UCD-2DPAGE; Q92777; -.
DR EPD; Q92777; -.
DR jPOST; Q92777; -.
DR MassIVE; Q92777; -.
DR PeptideAtlas; Q92777; -.
DR PRIDE; Q92777; -.
DR ProteomicsDB; 75457; -. [Q92777-1]
DR ProteomicsDB; 75458; -. [Q92777-2]
DR ABCD; Q92777; 1 sequenced antibody.
DR Antibodypedia; 4054; 126 antibodies from 28 providers.
DR DNASU; 6854; -.
DR Ensembl; ENST00000620175.4; ENSP00000484916.1; ENSG00000157152.17. [Q92777-2]
DR Ensembl; ENST00000621198.5; ENSP00000480050.1; ENSG00000157152.17. [Q92777-1]
DR GeneID; 6854; -.
DR KEGG; hsa:6854; -.
DR MANE-Select; ENST00000621198.5; ENSP00000480050.1; NM_133625.6; NP_598328.1.
DR CTD; 6854; -.
DR DisGeNET; 6854; -.
DR GeneCards; SYN2; -.
DR HGNC; HGNC:11495; SYN2.
DR HPA; ENSG00000157152; Tissue enriched (brain).
DR MalaCards; SYN2; -.
DR MIM; 181500; phenotype.
DR MIM; 600755; gene.
DR neXtProt; NX_Q92777; -.
DR OpenTargets; ENSG00000157152; -.
DR VEuPathDB; HostDB:ENSG00000157152; -.
DR eggNOG; KOG3895; Eukaryota.
DR GeneTree; ENSGT00940000156062; -.
DR InParanoid; Q92777; -.
DR OMA; CCEIFGG; -.
DR PhylomeDB; Q92777; -.
DR PathwayCommons; Q92777; -.
DR Reactome; R-HSA-181429; Serotonin Neurotransmitter Release Cycle.
DR Reactome; R-HSA-212676; Dopamine Neurotransmitter Release Cycle.
DR SignaLink; Q92777; -.
DR SIGNOR; Q92777; -.
DR BioGRID-ORCS; 6854; 10 hits in 228 CRISPR screens.
DR ChiTaRS; SYN2; human.
DR GenomeRNAi; 6854; -.
DR Pharos; Q92777; Tbio.
DR PRO; PR:Q92777; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q92777; protein.
DR Bgee; ENSG00000157152; Expressed in middle temporal gyrus and 141 other tissues.
DR ExpressionAtlas; Q92777; baseline and differential.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0098978; C:glutamatergic synapse; IEA:Ensembl.
DR GO; GO:0005886; C:plasma membrane; IEA:Ensembl.
DR GO; GO:0014069; C:postsynaptic density; IEA:Ensembl.
DR GO; GO:0098685; C:Schaffer collateral - CA1 synapse; IEA:Ensembl.
DR GO; GO:0031201; C:SNARE complex; IEA:Ensembl.
DR GO; GO:0045202; C:synapse; ISS:ParkinsonsUK-UCL.
DR GO; GO:0030672; C:synaptic vesicle membrane; ISS:ParkinsonsUK-UCL.
DR GO; GO:0005524; F:ATP binding; TAS:ParkinsonsUK-UCL.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0017156; P:calcium-ion regulated exocytosis; IEA:Ensembl.
DR GO; GO:0007268; P:chemical synaptic transmission; TAS:ProtInc.
DR GO; GO:0007269; P:neurotransmitter secretion; ISS:ParkinsonsUK-UCL.
DR GO; GO:0097091; P:synaptic vesicle clustering; IEA:Ensembl.
DR Gene3D; 3.30.1490.20; -; 1.
DR InterPro; IPR013815; ATP_grasp_subdomain_1.
DR InterPro; IPR016185; PreATP-grasp_dom_sf.
DR InterPro; IPR028712; SYN2/3.
DR InterPro; IPR001359; Synapsin.
DR InterPro; IPR020898; Synapsin_ATP-bd_dom.
DR InterPro; IPR019735; Synapsin_CS.
DR InterPro; IPR019736; Synapsin_P_site.
DR InterPro; IPR020897; Synapsin_pre-ATP-grasp_dom.
DR PANTHER; PTHR10841:SF20; PTHR10841:SF20; 1.
DR Pfam; PF02078; Synapsin; 1.
DR Pfam; PF02750; Synapsin_C; 1.
DR Pfam; PF10581; Synapsin_N; 1.
DR PRINTS; PR01368; SYNAPSIN.
DR SUPFAM; SSF52440; SSF52440; 1.
DR PROSITE; PS00415; SYNAPSIN_1; 1.
DR PROSITE; PS00416; SYNAPSIN_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Phosphoprotein; Reference proteome; Schizophrenia;
KW Synapse.
FT CHAIN 1..582
FT /note="Synapsin-2"
FT /id="PRO_0000183021"
FT REGION 1..29
FT /note="A"
FT REGION 16..84
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 33..112
FT /note="B; linker"
FT REGION 113..420
FT /note="C; actin-binding and synaptic-vesicle binding"
FT REGION 420..545
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 421..457
FT /note="G; Pro-rich linker"
FT REGION 458..533
FT /note="H; Pro/Ser-rich linker"
FT REGION 534..582
FT /note="E"
FT COMPBIAS 29..46
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 55..75
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 420..446
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 447..485
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 486..520
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 10
FT /note="Phosphoserine; by PKA and CaMK1"
FT /evidence="ECO:0000250|UniProtKB:Q63537"
FT MOD_RES 421
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q64332"
FT MOD_RES 425
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q64332"
FT VAR_SEQ 458..478
FT /note="GPGQPQGMQPPGKVLPPRRLP -> CLQYILDCNGIAVGPKQVQAS (in
FT isoform IIb)"
FT /evidence="ECO:0000303|PubMed:10565545,
FT ECO:0000303|PubMed:8964517"
FT /id="VSP_006320"
FT VAR_SEQ 479..582
FT /note="Missing (in isoform IIb)"
FT /evidence="ECO:0000303|PubMed:10565545,
FT ECO:0000303|PubMed:8964517"
FT /id="VSP_006321"
FT VARIANT 506
FT /note="T -> A (in dbSNP:rs794999)"
FT /id="VAR_059825"
FT CONFLICT 61
FT /note="R -> K (in Ref. 2; AAC28368/AAC33789)"
FT /evidence="ECO:0000305"
FT CONFLICT 70
FT /note="P -> A (in Ref. 1; AAC50718)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 582 AA; 62996 MW; 1EB4EC12FF090329 CRC64;
MMNFLRRRLS DSSFIANLPN GYMTDLQRPE PQQPPPPPPP GPGAASASAA PPTASPGPER
RPPPASAPAP QPAPTPSVGS SFFSSLSQAV KQTAASAGLV DAPAPAPAAA RKAKVLLVVD
EPHADWAKCF RGKKVLGDYD IKVEQAEFSE LNLVAHADGT YAVDMQVLRN GTKVVRSFRP
DFVLIRQHAF GMAENEDFRH LIIGMQYAGL PSINSLESIY NFCDKPWVFA QLVAIYKTLG
GEKFPLIEQT YYPNHKEMLT LPTFPVVVKI GHAHSGMGKV KVENHYDFQD IASVVALTQT
YATAEPFIDS KYDIRVQKIG NNYKAYMRTS ISGNWKTNTG SAMLEQIAMS DRYKLWVDTC
SEMFGGLDIC AVKAVHGKDG KDYIFEVMDC SMPLIGEHQV EDRQLITELV ISKMNQLLSR
TPALSPQRPL TTQQPQSGTL KDPDSSKTPP QRPPPQGGPG QPQGMQPPGK VLPPRRLPPG
PSLPPSSSSS SSSSSSAPQR PGGPTTHGDA PSSSSSLAEA QPPLAAPPQK PQPHPQLNKS
QSLTNAFSFS ESSFFRSSAN EDEAKAETIR SLRKSFASLF SD
