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Protein

Synaptotagmin-2

Gene

SYT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Differentiation

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-5250958. Toxicity of botulinum toxin type B (BoNT/B).
R-HSA-6794361. Interactions of neurexins and neuroligins at synapses.
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

HGNCiHGNC:11510. SYT2.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

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 rs587777781dbSNPEnsembl.1
Natural variantiVAR_072579308P → L in CMS7. 1 PublicationCorresponds to variant rs587777782dbSNPEnsembl.1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi127833.
MalaCardsiSYT2.
MIMi616040. phenotype.
OpenTargetsiENSG00000143858.
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...)Sequence analysis1
Modified residuei122PhosphothreonineBy similarity1
Modified residuei125PhosphothreonineBy similarity1
Modified residuei227PhosphotyrosineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ8N9I0.
PaxDbiQ8N9I0.
PeptideAtlasiQ8N9I0.
PRIDEiQ8N9I0.

PTM databases

iPTMnetiQ8N9I0.
PhosphoSitePlusiQ8N9I0.

Expressioni

Tissue specificityi

Expressed in melanocytes (PubMed:23999003).1 Publication

Gene expression databases

BgeeiENSG00000143858.
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).Curated2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi126085. 5 interactors.
IntActiQ8N9I0. 4 interactors.
MINTiMINT-2810903.
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
Contains 2 C2 domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
IPR001565. Synaptotagmin.
IPR030543. Syt2.
[Graphical view]
PANTHERiPTHR10024:SF223. PTHR10024:SF223. 1 hit.
PfamiPF00168. C2. 2 hits.
[Graphical view]
PRINTSiPR00360. C2DOMAIN.
PR00399. SYNAPTOTAGMN.
SMARTiSM00239. C2. 2 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.
PROSITEiPS50004. C2. 2 hits.
[Graphical view]

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 rs587777781dbSNPEnsembl.1
Natural variantiVAR_072579308P → L in CMS7. 1 PublicationCorresponds to variant rs587777782dbSNPEnsembl.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.

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. 5 interactors.
IntActiQ8N9I0. 4 interactors.
MINTiMINT-2810903.
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.

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.
GeneCardsiSYT2.
HGNCiHGNC:11510. SYT2.
HPAiHPA030372.
HPA063655.
MalaCardsiSYT2.
MIMi600104. gene.
616040. phenotype.
neXtProtiNX_Q8N9I0.
OpenTargetsiENSG00000143858.
PharmGKBiPA36291.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiSYT2. human.
GeneWikiiSYT2.
GenomeRNAii127833.
PROiQ8N9I0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143858.
CleanExiHS_SYT2.
ExpressionAtlasiQ8N9I0. baseline and differential.
GenevisibleiQ8N9I0. HS.

Family and domain databases

Gene3Di2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
IPR001565. Synaptotagmin.
IPR030543. Syt2.
[Graphical view]
PANTHERiPTHR10024:SF223. PTHR10024:SF223. 1 hit.
PfamiPF00168. C2. 2 hits.
[Graphical view]
PRINTSiPR00360. C2DOMAIN.
PR00399. SYNAPTOTAGMN.
SMARTiSM00239. C2. 2 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.
PROSITEiPS50004. C2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSYT2_HUMAN
AccessioniPrimary (citable) accession number: Q8N9I0
Secondary accession number(s): Q496K5, Q8NBE5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: October 17, 2006
Last modified: November 2, 2016
This is version 136 of the entry and version 2 of the sequence. [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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.