• Gene id: 127833

Gene Summary

• Gene Symbol: SYT2   Gene   UCSC   Ensembl
• Aliases: CMS7, MYSPC, SytII
• Gene name: synaptotagmin 2
• Alternate names: synaptotagmin-2, synaptotagmin II,
• Gene location: 1q32.1 (202710453: 202590595)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 120131

Protein Summary

• Protein general information: Q8N9I0  
  • Name: Synaptotagmin 2 (Synaptotagmin II) (SytII)
  • Length: 419  
  • Mass: 46872
  • Tissue specificity: Expressed in melanocytes (PubMed
• Sequence:

  MRNIFKRNQEPIVAPATTTATMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLL
  LLTCCFCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYD
  FQANQLTVGVLQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMA
  IYDFDRFSKHDIIGEVKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPTAGKLTVCILEAKNLKKM
  DVGGLSDPYVKIHLMQNGKRLKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIF
  VGSNATGTELRHWSDMLANPRRPIAQWHSLKPEEEVDALLGKNK

• Structural information:
  • Protein Domains: (139..25-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (270..40-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR001565  IPR015428  
  • Prosite: PS50004
  • STRING: ENSP00000356236
• Other Databases: GeneCards:  SYT2  Malacards:  SYT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001786	phosphatidylserine binding	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IBA	molecular function
GO:0014059	regulation of dopamine secretion	IBA	biological process
GO:0016079	synaptic vesicle exocytosis	IBA	biological process
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0017156	calcium-ion regulated exocytosis	IBA	biological process
GO:0017158	regulation of calcium ion-dependent exocytosis	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0031045	dense core granule	IBA	cellular component
GO:0048791	calcium ion-regulated exocytosis of neurotransmitter	IBA	biological process
GO:0071277	cellular response to calcium ion	IBA	biological process
GO:0000149	SNARE binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0019905	syntaxin binding	IBA	molecular function
GO:0030276	clathrin binding	IBA	molecular function
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0048488	synaptic vesicle endocytosis	IBA	biological process
GO:0070382	exocytic vesicle	IBA	cellular component
GO:0005544	calcium-dependent phospholipid binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043533	inositol 1,3,4,5 tetrakisphosphate binding	ISS	molecular function
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0007269	neurotransmitter secretion	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030672	synaptic vesicle membrane	TAS	cellular component
GO:0030672	synaptic vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042584	chromaffin granule membrane	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:1903861	positive regulation of dendrite extension	IDA	biological process

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Congenital myasthenic syndrome	KEGG:H00770
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq