rs4932178

This is a regulatory region variant variant in the FURIN gene.

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Research that mentions this SNP (1)

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A genome-wide expression quantitative trait loci analysis of proprotein convertase subtilisin/kexin enzymes identifies a novel regulatory gene variant for FURIN expression and blood pressure
AssociationN=1,428Hannu Turpeinen et al.(2015)· Human Genetics

A genome-wide eQTL analysis in >1400 blood samples identified 10 independent loci regulating proprotein convertase (PCSK) gene expression, with rs4702 as a novel cis-eQTL for FURIN showing genome-wide significance (p=6.14e-10). The rs4702 AA genotype was significantly associated with increased diastolic (p=0.012) and systolic (p=0.035) blood pressure, as well as systemic vascular resistance (p=0.003), with effect sizes of ~0.75 mmHg diastolic and ~1.0 mmHg systolic per coded allele.

Traits studied:Blood pressure (systolic and diastolic)Cardiac outputHeart ratePCSK gene expression (eQTL)Stroke volumeSystemic vascular resistance
PubMedDOIMetascience Observatory

About FURIN

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. Like other members of this convertase family, the product of this gene specifically cleaves substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140, and may play a role in tumor progression. Unlike SARS-CoV and other coronaviruses, the spike protein of SARS-CoV-2 is thought to be uniquely cleaved by this protease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]

View all FURIN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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