rs4652
This is a protein-altering variant in the LGALS3 gene.
▶Research that mentions this SNP (2)
▶Genetic Variants in the Vicinity of LGALS‐3 Gene and LGALS‐3 mRNA Expression in Advanced Carotid Atherosclerosis: An Exploratory StudyAssociationN=785Ana Djordjevic et al.(2016)· Journal of Clinical Laboratory Analysis
This case-control study of 785 Serbian subjects (485 advanced carotid atherosclerosis patients, 300 controls) examined two genetic variants in the LGALS-3 gene (rs2274273 and rs17128183) for association with carotid atherosclerosis risk and LGALS-3 mRNA expression. No statistically significant associations were found between either variant and advanced carotid atherosclerosis or plaque phenotypes (all p > 0.0125 after Bonferroni correction). However, rare allele carriers of both variants showed significantly higher LGALS-3 mRNA expression in carotid plaque tissue (p = 0.039), suggesting these variants may affect gene expression despite lacking association with disease risk.
▶A galectin‐3 sequence polymorphism confers TRAIL sensitivity to human breast cancer cellsFunctionalNachman Mazurek et al.(2011)· Cancer
A galectin-3 sequence polymorphism (rs4644, P64H) influences TRAIL sensitivity in breast cancer cells. The His64 variant confers TRAIL sensitivity through PTEN upregulation and PI3K/Akt pathway inactivation, while the Pro64 variant results in TRAIL resistance. This functional finding suggests the polymorphism could explain disparities in breast cancer outcomes across populations.
About LGALS3
This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014]
View all LGALS3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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