• Gene id: 91683

Gene Summary

• Gene Symbol: SYT12   Gene   UCSC   Ensembl
• Aliases: SYT11, sytXII
• Gene name: synaptotagmin 12
• Alternate names: synaptotagmin-12, synaptotagmin-XII,
• Gene location: 11q13.2 (67006772: 67050862)     Exons: 8     NC_000011.10
• Gene summary(Entrez): This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that
• OMIM: 606436

Protein Summary

• Protein general information: Q8IV01  
  • Name: Synaptotagmin 12 (Synaptotagmin XII) (SytXII)
  • Length: 421  
  • Mass: 46537
• Sequence:

  MAVDVAEYHLSVIKSPPGWEVGVYAAGALALLGIAAVSLWKLWTSGSFPSPSPFPNYDYRYLQQKYGESCAEARE
  KRVPAWNAQRASTRGPPSRKGSLSIEDTFESISELGPLELMGRELDLAPYGTLRKSQSADSLNSISSVSNTFGQD
  FTLGQVEVSMEYDTASHTLNVAVMQGKDLLEREEASFESCFMRVSLLPDEQIVGISRIQRNAYSIFFDEKFSIPL
  DPTALEEKSLRFSVFGIDEDERNVSTGVVELKLSVLDLPLQPFSGWLYLQDQNKAADAVGEILLSLSYLPTAERL
  TVVVVKAKNLIWTNDKTTADPFVKVYLLQDGRKMSKKKTAVKRDDPNPVFNEAMIFSVPAIVLQDLSLRVTVAES
  SSDGRGDNVGHVIIGPSASGMGTTHWNQMLATLRRPVSMWHAVRRN

• Structural information:
  • Protein Domains: (152..27-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (283..41-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR030537  
  • Prosite: PS50004
  • STRING: ENSP00000377520
• Other Databases: GeneCards:  SYT12  Malacards:  SYT12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071277	cellular response to calcium ion	IBA	biological process
GO:0048791	calcium ion-regulated exocytosis of neurotransmitter	IBA	biological process
GO:0017158	regulation of calcium ion-dependent exocytosis	IBA	biological process
GO:0017156	calcium-ion regulated exocytosis	IBA	biological process
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0014059	regulation of dopamine secretion	IBA	biological process
GO:0005544	calcium-dependent phospholipid binding	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0001786	phosphatidylserine binding	IBA	molecular function
GO:0070382	exocytic vesicle	IBA	cellular component
GO:0030276	clathrin binding	IBA	molecular function
GO:0019905	syntaxin binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0000149	SNARE binding	IBA	molecular function
GO:0046928	regulation of neurotransmitter secretion	IEA	biological process
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0048792	spontaneous exocytosis of neurotransmitter	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray