Gene: CHN1

Alternate names for this Gene: ARHGAP2|CHN|DURS2|NC|RHOGAP2

Gene Summary: This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.1

Description of this Gene: chimerin 1

Type of Gene: protein-coding

rs121912792 in CHN1 gene and Duane Retraction Syndrome, Type 2 PMID 18653847 2008 Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.

rs188245701 in CHN1 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs1205151 in CHN1 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.