Gene: ARHGEF12

Alternate names for this Gene: LARG|PRO2792

Gene Summary: Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: Rho guanine nucleotide exchange factor 12

Type of Gene: protein-coding

rs10892566 in ARHGEF12 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

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

rs7924772 in ARHGEF12 gene and Coronary Artery Disease PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

rs11217878 in ARHGEF12 gene and Glaucoma PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

rs7126413 in ARHGEF12 gene and Glaucoma, Open-Angle PMID 29891935 2018 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

rs77216358 in ARHGEF12 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs2305013 in ARHGEF12 gene and Mean blood pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs2305013 in ARHGEF12 gene and Systolic Pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

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

rs10502235 in ARHGEF12 gene and Tonometry PMID 25637523 2015 ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.

PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

PMID 28073927 2017 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.

PMID 29235454 2017 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.