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Relevance to Autism

A rare deletion of the SYT3 gene has been identified in an individual with ASD (Sato et al., 2012).

Molecular Function

May be involved in Ca2+-dependent exocytosis of secretory vesicles through Ca2+ and phospholipid binding to the C2 domain or may serve as Ca2+ sensors in the process of vesicular trafficking and exocytosis.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
SHANK1 Deletions in Males with Autism Spectrum Disorder.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN341R001 
 copy_number_loss 
  
  
 De novo 
  
 Multiplex 
 GEN341R002 
 missense_variant 
 c.449G>A 
 p.Ser150Asn 
 Unknown 
  
  
 GEN341R003 
 synonymous_variant 
 c.1530C>T 
 p.Ser510%3D 
 De novo 
  
 Multiplex 
 GEN341R004 
 frameshift_variant 
 c.417_420del 
 p.Pro141LeufsTer97 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion
 2
 
19
Duplication
 1
 
19
Deletion-Duplication
 4
 
19
Duplication
 1
 

No Animal Model Data Available





Download SYT3's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
FNDC3A fibronectin type III domain containing 3A 22862 Q9Y2H6 IP; LC-MS/MS
Huttlin EL , et al. 2015
LMF2 Lipase maturation factor 2 91289 Q9BU23-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
MADD MAP-kinase activating death domain 8567 Q8WXG6 IP; LC-MS/MS
Huttlin EL , et al. 2015
MECP2 methyl CpG binding protein 2 (Rett syndrome) 4204 P51608 ChIP-chip
Yasui DH , et al. 2007
MYH7 myosin, heavy chain 7, cardiac muscle, beta 4625 P12883 IP; LC-MS/MS
Huttlin EL , et al. 2015
PGK2 Phosphoglycerate kinase 2 5232 P07205 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNAP25 synaptosomal-associated protein 25 20614 P60879 GST; IP/WB
Gerona RR , et al. 2000
STX1A syntaxin 1A (brain) 6804 Q16623 GST
Kee Y and Scheller RH 1996
SYNCRIP synaptotagmin binding, cytoplasmic RNA interacting protein 56403 Q3TRV3 GST; IP/WB
Mizutani A , et al. 2000
SYT10 synaptotagmin X 54526 Q059J3 IP/WB
Fukuda M , et al. 1999
SYT3 synaptotagmin III 20981 O35681 IP/WB
Fukuda M , et al. 1999
SYT5 synaptotagmin V 53420 Q9R0N5 IP/WB
Fukuda M , et al. 1999
SYT6 synaptotagmin VI 54524 Q9R0N8 IP/WB
Fukuda M , et al. 1999
SYT3 synaptotagmin III 20981 G3X9Y1 IP/WB
Fukuda M , et al. 1999
Vamp2 vesicle-associated membrane protein 2 22318 P63044 IP/WB
Mizuta M , et al. 1997
Ap2a1 adaptor-related protein complex 2, alpha 1 subunit 308578 D3ZUY8 in vitro binding assay
Li C , et al. 1995

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