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Protein

Synaptotagmin-2

Gene

SYT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Exhibits calcium-dependent phospholipid and inositol polyphosphate binding properties (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).By similarity1 Publication

Cofactori

Ca2+By similarityNote: Binds 3 Ca2+ ions per subunit. The ions are bound to the C2 domains.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi169Calcium 2; via carbonyl oxygenBy similarity1
Metal bindingi170Calcium 1By similarity1
Metal bindingi170Calcium 2By similarity1
Metal bindingi176Calcium 1By similarity1
Metal bindingi228Calcium 1By similarity1
Metal bindingi228Calcium 2By similarity1
Metal bindingi229Calcium 1; via carbonyl oxygenBy similarity1
Metal bindingi230Calcium 1By similarity1
Metal bindingi230Calcium 2By similarity1
Metal bindingi230Calcium 3By similarity1
Metal bindingi233Calcium 3By similarity1
Metal bindingi234Calcium 3; via carbonyl oxygenBy similarity1
Metal bindingi236Calcium 2By similarity1
Metal bindingi236Calcium 3By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processDifferentiation
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-5250958 Toxicity of botulinum toxin type B (BoNT/B)
R-HSA-6794361 Neurexins and neuroligins
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

Names & Taxonomyi

Protein namesi
Recommended name:
Synaptotagmin-2Curated
Alternative name(s):
Synaptotagmin IIImported
Short name:
SytIIBy similarity
Gene namesi
Name:SYT2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000143858.11
HGNCiHGNC:11510 SYT2
MIMi600104 gene
neXtProtiNX_Q8N9I0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 62VesicularSequence analysisAdd BLAST62
Transmembranei63 – 83HelicalSequence analysisAdd BLAST21
Topological domaini84 – 419CytoplasmicSequence analysisAdd BLAST336

Keywords - Cellular componenti

Cell junction, Cytoplasmic vesicle, Membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Myasthenic syndrome, congenital, 7, presynaptic (CMS7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS7 is an autosomal dominant, presynaptic disorder resembling Lambert-Eaton myasthenic syndrome. Affected individuals have a variable degree of proximal and distal limb weakness, muscle fatigue that improves with rest, mild gait difficulties, and reduced or absent deep tendon reflexes.
See also OMIM:616040
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072578307D → A in CMS7. 1 PublicationCorresponds to variant dbSNP:rs587777781EnsemblClinVar.1
Natural variantiVAR_072579308P → L in CMS7. 1 PublicationCorresponds to variant dbSNP:rs587777782EnsemblClinVar.1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi127833
MalaCardsiSYT2
MIMi616040 phenotype
OpenTargetsiENSG00000143858
Orphaneti98914 Presynaptic congenital myasthenic syndromes
PharmGKBiPA36291

Chemistry databases

DrugBankiDB00042 Botulinum Toxin Type B

Polymorphism and mutation databases

BioMutaiSYT2
DMDMi116242811

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001839421 – 419Synaptotagmin-2Add BLAST419

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi29N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei122PhosphothreonineBy similarity1
Modified residuei125PhosphothreonineBy similarity1
Modified residuei227PhosphotyrosineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ8N9I0
PaxDbiQ8N9I0
PeptideAtlasiQ8N9I0
PRIDEiQ8N9I0
ProteomicsDBi72541

PTM databases

iPTMnetiQ8N9I0
PhosphoSitePlusiQ8N9I0

Expressioni

Tissue specificityi

Expressed in melanocytes (PubMed:23999003).1 Publication

Gene expression databases

BgeeiENSG00000143858 Expressed in 122 organ(s), highest expression level in midbrain
CleanExiHS_SYT2
ExpressionAtlasiQ8N9I0 baseline and differential
GenevisibleiQ8N9I0 HS

Organism-specific databases

HPAiHPA030372
HPA063655

Interactioni

Subunit structurei

Homotetramer (Probable). Interacts with STON2 (PubMed:11381094). Interacts with SCAMP5 (PubMed:19234194). Interacts with PRRT2 (By similarity).By similarityCurated2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi126085, 6 interactors
ELMiQ8N9I0
IntActiQ8N9I0, 28 interactors
MINTiQ8N9I0
STRINGi9606.ENSP00000356236

Structurei

3D structure databases

ProteinModelPortaliQ8N9I0
SMRiQ8N9I0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini141 – 242C2 1PROSITE-ProRule annotationAdd BLAST102
Domaini272 – 375C2 2PROSITE-ProRule annotationAdd BLAST104

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni133 – 379Phospholipid bindingBy similarityAdd BLAST247

Domaini

The first C2 domain mediates Ca2+-dependent phospholipid binding.By similarity
The second C2 domain mediates interaction with Stonin 2. The second C2 domain mediates phospholipid and inositol polyphosphate binding in a calcium-independent manner.By similarity

Sequence similaritiesi

Belongs to the synaptotagmin family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1028 Eukaryota
ENOG4111B9R LUCA
GeneTreeiENSGT00760000118973
HOGENOMiHOG000232127
HOVERGENiHBG005010
InParanoidiQ8N9I0
KOiK19902
OMAiKGAKNAM
OrthoDBiEOG091G0XMQ
PhylomeDBiQ8N9I0
TreeFamiTF315600

Family and domain databases

Gene3Di2.60.40.150, 2 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR001565 Synaptotagmin
IPR015428 Synaptotagmin1/2
PANTHERiPTHR10024:SF223 PTHR10024:SF223, 1 hit
PfamiView protein in Pfam
PF00168 C2, 2 hits
PRINTSiPR00360 C2DOMAIN
PR00399 SYNAPTOTAGMN
SMARTiView protein in SMART
SM00239 C2, 2 hits
PROSITEiView protein in PROSITE
PS50004 C2, 2 hits

Sequencei

Sequence statusi: Complete.

Q8N9I0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRNIFKRNQE PIVAPATTTA TMPIGPVDNS TESGGAGESQ EDMFAKLKEK
60 70 80 90 100
LFNEINKIPL PPWALIAIAV VAGLLLLTCC FCICKKCCCK KKKNKKEKGK
110 120 130 140 150
GMKNAMNMKD MKGGQDDDDA ETGLTEGEGE GEEEKEPENL GKLQFSLDYD
160 170 180 190 200
FQANQLTVGV LQAAELPALD MGGTSDPYVK VFLLPDKKKK YETKVHRKTL
210 220 230 240 250
NPAFNETFTF KVPYQELGGK TLVMAIYDFD RFSKHDIIGE VKVPMNTVDL
260 270 280 290 300
GQPIEEWRDL QGGEKEEPEK LGDICTSLRY VPTAGKLTVC ILEAKNLKKM
310 320 330 340 350
DVGGLSDPYV KIHLMQNGKR LKKKKTTVKK KTLNPYFNES FSFEIPFEQI
360 370 380 390 400
QKVQVVVTVL DYDKLGKNEA IGKIFVGSNA TGTELRHWSD MLANPRRPIA
410
QWHSLKPEEE VDALLGKNK
Length:419
Mass (Da):46,872
Last modified:October 17, 2006 - v2
Checksum:iBE3855E9CDE2D76E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti310V → G in BAC04354 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072578307D → A in CMS7. 1 PublicationCorresponds to variant dbSNP:rs587777781EnsemblClinVar.1
Natural variantiVAR_072579308P → L in CMS7. 1 PublicationCorresponds to variant dbSNP:rs587777782EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090672 mRNA Translation: BAC03500.1
AK094430 mRNA Translation: BAC04354.1
BC100814 mRNA Translation: AAI00815.1
BC100815 mRNA Translation: AAI00816.1
BC100817 mRNA Translation: AAI00818.1
CCDSiCCDS1427.1
RefSeqiNP_001129976.1, NM_001136504.1
NP_796376.2, NM_177402.4
XP_016855802.1, XM_017000313.1
UniGeneiHs.25422

Genome annotation databases

EnsembliENST00000367267; ENSP00000356236; ENSG00000143858
ENST00000367268; ENSP00000356237; ENSG00000143858
GeneIDi127833
KEGGihsa:127833
UCSCiuc001gye.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090672 mRNA Translation: BAC03500.1
AK094430 mRNA Translation: BAC04354.1
BC100814 mRNA Translation: AAI00815.1
BC100815 mRNA Translation: AAI00816.1
BC100817 mRNA Translation: AAI00818.1
CCDSiCCDS1427.1
RefSeqiNP_001129976.1, NM_001136504.1
NP_796376.2, NM_177402.4
XP_016855802.1, XM_017000313.1
UniGeneiHs.25422

3D structure databases

ProteinModelPortaliQ8N9I0
SMRiQ8N9I0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126085, 6 interactors
ELMiQ8N9I0
IntActiQ8N9I0, 28 interactors
MINTiQ8N9I0
STRINGi9606.ENSP00000356236

Chemistry databases

DrugBankiDB00042 Botulinum Toxin Type B

PTM databases

iPTMnetiQ8N9I0
PhosphoSitePlusiQ8N9I0

Polymorphism and mutation databases

BioMutaiSYT2
DMDMi116242811

Proteomic databases

EPDiQ8N9I0
PaxDbiQ8N9I0
PeptideAtlasiQ8N9I0
PRIDEiQ8N9I0
ProteomicsDBi72541

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367267; ENSP00000356236; ENSG00000143858
ENST00000367268; ENSP00000356237; ENSG00000143858
GeneIDi127833
KEGGihsa:127833
UCSCiuc001gye.4 human

Organism-specific databases

CTDi127833
DisGeNETi127833
EuPathDBiHostDB:ENSG00000143858.11
GeneCardsiSYT2
HGNCiHGNC:11510 SYT2
HPAiHPA030372
HPA063655
MalaCardsiSYT2
MIMi600104 gene
616040 phenotype
neXtProtiNX_Q8N9I0
OpenTargetsiENSG00000143858
Orphaneti98914 Presynaptic congenital myasthenic syndromes
PharmGKBiPA36291
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1028 Eukaryota
ENOG4111B9R LUCA
GeneTreeiENSGT00760000118973
HOGENOMiHOG000232127
HOVERGENiHBG005010
InParanoidiQ8N9I0
KOiK19902
OMAiKGAKNAM
OrthoDBiEOG091G0XMQ
PhylomeDBiQ8N9I0
TreeFamiTF315600

Enzyme and pathway databases

ReactomeiR-HSA-5250958 Toxicity of botulinum toxin type B (BoNT/B)
R-HSA-6794361 Neurexins and neuroligins
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

Miscellaneous databases

ChiTaRSiSYT2 human
GeneWikiiSYT2
GenomeRNAii127833
PROiPR:Q8N9I0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143858 Expressed in 122 organ(s), highest expression level in midbrain
CleanExiHS_SYT2
ExpressionAtlasiQ8N9I0 baseline and differential
GenevisibleiQ8N9I0 HS

Family and domain databases

Gene3Di2.60.40.150, 2 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR001565 Synaptotagmin
IPR015428 Synaptotagmin1/2
PANTHERiPTHR10024:SF223 PTHR10024:SF223, 1 hit
PfamiView protein in Pfam
PF00168 C2, 2 hits
PRINTSiPR00360 C2DOMAIN
PR00399 SYNAPTOTAGMN
SMARTiView protein in SMART
SM00239 C2, 2 hits
PROSITEiView protein in PROSITE
PS50004 C2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiSYT2_HUMAN
AccessioniPrimary (citable) accession number: Q8N9I0
Secondary accession number(s): Q496K5, Q8NBE5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 151 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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