rs17035945
This is a 3 prime utr variant variant in the SYN2 gene.
▶Research that mentions this SNP (1)
▶Promoter Polymorphism (rs3755724, -55C/T) of Tissue Inhibitor of Metalloproteinase 4 (TIMP4) as a Risk Factor for Kawasaki Disease with Coronary Artery Lesions in a Korean PopulationAssociationN=351Ju Yeon Ban et al.(2009)· Pediatric Cardiology
This case-control study examined two SNPs in the TIMP4 gene (tissue inhibitor of metalloproteinase 4) in 101 Korean Kawasaki disease patients and 250 controls. The rs3755724 promoter polymorphism (-55C/T) showed a significant association with coronary artery lesion (CAL) development in KD patients in a recessive model (P = 0.02; OR 0.31; 95% CI 0.11-0.85), with the C allele conferring increased CAL risk. The rs17035945 variant showed no association.
About SYN2
This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]
View all SYN2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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