rs9321013
This variant is located in the RNF217 gene.
▶Research that mentions this SNP (1)
▶Detecting genetic interactions for quantitative traits with U-statisticsAssociationN=2,915Ming Li et al.(2011)· Genetic Epidemiology
This paper introduces the Forward U-Test, a statistical method for detecting gene-gene interactions affecting quantitative traits. Applied to nicotine dependence in the SAGE dataset, the method identified two SNPs with significant joint association: rs16969968 (CHRNA5) and rs1122530 (NTRK2), with a p-value of 5.31e-7 in the discovery cohort (FSCD) and replication p-values of 1.08e-5 (COGA) and 0.02 (COGEND), demonstrating an essential interaction effect between the two loci.
About RNF217
This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
View all RNF217 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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