Gene: MCF2L

Alternate names for this Gene: ARHGEF14|DBS|OST

Gene Summary: This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 13

Location in Chromosome : 13q34

Description of this Gene: MCF.2 cell line derived transforming sequence like

Type of Gene: protein-coding

rs9549328 in MCF2L gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10665 in MCF2L gene and Coagulation factor measurement PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.

rs1317507 in MCF2L gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs11842874 in MCF2L gene and Degenerative polyarthritis PMID 21871595 2011 Through large-scale replication, we establish a robust association with SNPs in MCF2L (rs11842874, combined odds ratio [95% confidence interval] 1.17 [1.11-1.23], p = 2.1 × 10(-8)) across a total of 19,041 OA cases and 24,504 controls of European descent.

rs1046205 in MCF2L gene and Factor VII measurement PMID 30642921 2019 A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.

rs3011549 in MCF2L gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10665 in MCF2L gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.