rs149228
This variant is located in the SHISA9 gene.
▶Research that mentions this SNP (1)
▶Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signalsMeta-analysisN=2,583Below JE et al.(2011)· Diabetologia
Genome-wide association study (GWAS) of type 2 diabetes in 837 Mexican-Americans cases and 436 controls from Starr County, Texas, combined with meta-analysis of 967 cases and 343 controls from Mexico City. The study identified 49 high-quality SNPs in 14 genomic regions associated with type 2 diabetes, including novel loci in PER3, PARD3B, EPHA4, TOMM7, PTPRD, and IL34. Top signals showed odds ratios ranging from 1.26 to 1.83. Functional annotation revealed significant enrichment of expression quantitative trait loci (eQTL) in muscle and adipose tissues among top associated variants.
About SHISA9
Predicted to enable PDZ domain binding activity. Predicted to be involved in regulation of postsynaptic neurotransmitter receptor activity and regulation of short-term neuronal synaptic plasticity. Predicted to act upstream of or within regulation of AMPA receptor activity. Predicted to be located in synapse. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendritic spine membrane; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2025]
View all SHISA9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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