rs7117082
This is a intron variant variant in the OPCML gene.
▶Research that mentions this SNP (1)
▶Genome-wide Association and Network Analysis of Lung Function in the Framingham Heart StudyAssociationN=6,295Shu-Yi Liao et al.(2014)· Genetic Epidemiology
Genome-wide association and network analysis of longitudinal lung function data from 2,698 participants in the Framingham Heart Study Offspring cohort identified 11 genes (SMAD3, TGFBR2, CD44, CTGF, VCAN, CTNNB1, SCGB1A1, PDE4D, NRG1, EPHB1, LYN) through combined SNP-level and protein-protein interaction network analysis. Results were validated using 3,597 Third Generation cohort participants. Most identified genes were novel and involve the TGFB-SMAD and Wnt/beta-catenin pathways relevant to pulmonary function.
About OPCML
This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily of proteins. The encoded preprotein is proteolytically processed to generate the mature protein. This protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-cell adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
View all OPCML variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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