STK39

STK39

A gene on chromosome 2q24.3 that encodes a serine/threonine protein kinase thought to mediate stress-activated signals. It is primarily expressed in the brain and pancreas.
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References in periodicals archive ?
Association of common variants in/near six genes (ATP2B1, CSK, MTHFR, CYP17A1, STK39 and FGF5) with blood pressure/hypertension risk in Chinese children.
The polymorphisms located within common susceptibility variants--the SNCA, MAPT, LRRK2, GBA, PARK16, BST1, DGKQ, and STK39 genes--exhibit the strongest association with sporadic PD [8-11].
McArdle et al., "Whole-genome association study identifies STK39 as a hypertension susceptibility gene," Proceedings of the National Academy of Sciences, vol.
Zhao et al., "Association of common variants in/near six genes (ATP2B1, CSK, MTHFR, CYP17A1, STK39 and FGF5) with blood pressure/hypertension risk in Chinese children," Journal of Human Hypertension, vol.
McArdle et al., "From the cover: whole-genome association study identifies STK39 as a hypertension susceptibility gene," Proceedings of the National Academy of Sciences of the United States of America, vol.
The WNK1 and WNK4 isoforms, through directing two homologous kinases, SPS1-related proline/alanine-rich kinase (SPAK, also known as serine threonine kinase 39, STK39) and oxidative stress-responsive kinase1 (OSR1) which phosphorylates and activates NCC and [Na.sup.+]/[K.sup.+]/2[Cl.sup.-] cotransporters (NKCC) 1 and 2, thereby play important roles in controlling blood pressure [35-38].
Uchida, "Generation of hypertension-associated STK39 polymorphism knockin cell lines with the clustered regularly interspaced short palindromic repeats/Cas9 system," Hypertension, vol.
Variants of this human gene influence blood pressure by increasing STK39 expression and consequently altering renal sodium excretion by working at the distal nephron.
We collected the genotype data by using the tetra primer ARMS-PCR technique to detect the STK39 Single Nucleotide Polymorphism rs35929607 as this method is quite rapid, simple, cost effective and accurate.
Keywords: Serine-threonine kinase-39 (STK39) gene, Single nucleotide polymorphism (SNP) STK39 rs35929607, Essential hypertension, Cardiovascular diseases, STK39 Genotypes, Effect size of Risk Factors, Pakistani population.
According to the results of a study being published online in the Proceedings of the National Academy of Sciences (PNAS), the STK39 gene is the first hypertension susceptibility gene to be uncovered through a new technique called a genome-wide association study and confirmed by data from several independent studies.
[20,21] The STK39 is expressed in the distal nephron and influence the blood pressure by altering renal Na+ excretion [19] It was found that rs35929607 is a conserved nucleotide within a highly conserved sequence element.