Gene: RGS14

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: regulator of G protein signaling 14

Type of Gene: protein-coding

rs4976646 in RGS14 gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs11746443 in RGS14 gene and Calculus of kidney and ureter PMID 22396660 2012 A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.

rs4976646 in RGS14 gene and Crohn Disease PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs6556313 in RGS14 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11741640 in RGS14 gene and Fibroblast Growth Factor 23 Measurement PMID 30217807 2018 Another locus strongly associated with variations in FGF23 concentration is rs11741640, within <i>RGS14</i> and upstream of <i>SLC34A1</i> (a gene involved in renal phosphate transport).

rs56235845 in RGS14 gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs56235845 in RGS14 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12654812 in RGS14 gene and Inflammatory Bowel Diseases PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs4074995 in RGS14 gene and Inorganic phosphate measurement PMID 20558539 2010 Common genetic variants associate with serum phosphorus concentration.

rs12654812 in RGS14 gene and Kidney Calculi PMID 26272126 2015 Common and rare variants associated with kidney stones and biochemical traits.

rs4976646 in RGS14 gene and Kidney Failure, Chronic PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs4075958 in RGS14 gene and Multiple Sclerosis PMID 21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs11746443 in RGS14 gene and Nephrolithiasis PMID 22396660 2012 Here we found three novel loci for nephrolithiasis: RGS14-SLC34A1-PFN3-F12 on 5q35.3 (rs11746443; P = 8.51×10⁻¹², odds ratio (OR) = 1.19), INMT-FAM188B-AQP1 on 7p14.3 (rs1000597; P = 2.16×10⁻¹⁴, OR = 1.22), and DGKH on 13q14.1 (rs4142110; P = 4.62×10⁻⁹, OR = 1.14).

rs4074995 in RGS14 gene and Parathyroid hormone measurement PMID 27927781 2017 The other SNPs associated with serum PTH concentration included rs4074995 within <i>RGS14</i> (<i>P</i>=6.6 × 10<sup>-17</sup>), rs219779 adjacent to <i>CLDN14</i> (<i>P</i>=3.5 × 10<sup>-16</sup>), rs4443100 near <i>RTDR1</i> (<i>P</i>=8.7 × 10<sup>-9</sup>), and rs73186030 near <i>CASR</i> (<i>P</i>=4.8 × 10<sup>-8</sup>).

rs4074995 in RGS14 gene and Phosphorus measurement PMID 20558539 2010 Common genetic variants associate with serum phosphorus concentration.

rs4075958 in RGS14 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4976646 in RGS14 gene and Ulcerative Colitis PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs11746443 in RGS14 gene and Urolithiasis PMID 30975718 2019 Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population.

rs12654812 in RGS14 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.