Gene: RIPOR2

Alternate names for this Gene: C6orf32|DFNB104|DIFF40|DIFF48|FAM65B|MYONAP|PL48

Gene Summary: This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.3

Description of this Gene: RHO family interacting cell polarization regulator 2

Type of Gene: protein-coding

rs79014439 in RIPOR2 gene and Asthma PMID 25918132 2015 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.

rs12194442 in RIPOR2 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs6911302 in RIPOR2 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs186361153 in RIPOR2 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.