Gene: CHN2

Alternate names for this Gene: ARHGAP3|BCH|CHN2-3|RHOGAP3

Gene Summary: This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.3

Description of this Gene: chimerin 2

Type of Gene: protein-coding

rs7782730 in CHN2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs39075 in CHN2 gene and Diabetic Nephropathy PMID 19252134 2009 Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes.

rs1107011 in CHN2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs1016726 in CHN2 gene and Prion Diseases PMID 22210626 2012 Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.

rs7782730 in CHN2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.