Gene: ARHGEF11

Alternate names for this Gene: GTRAP48|PDZ-RHOGEF

Gene Summary: Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.1

Description of this Gene: Rho guanine nucleotide exchange factor 11

Type of Gene: protein-coding

rs6686367 in ARHGEF11 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs1763908 in ARHGEF11 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6427339 in ARHGEF11 gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).