rs245914
This variant is located in the CHN2 gene.
▶Research that mentions this SNP (1)
▶Genome‐wide association study of atypical psychosisAssociationN=929Tetsufumi Kanazawa et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A GWAS of 47 Japanese atypical psychosis patients and 882 controls identified suggestive associations with CHN2/CPVL (rs245914, P=1.6×10⁻⁷), COL21A1 (rs12196860, P=2.45×10⁻⁷), and PYGL/TRIM9 (rs1959536, P=7.73×10⁻⁷), though none reached genome-wide significance. Gene-based analysis revealed significant genetic overlap with schizophrenia (P=0.014) but not bipolar disorder, suggesting atypical psychosis shares greater genetic architecture with schizophrenia.
About CHN2
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. [provided by RefSeq, May 2014]
View all CHN2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…