rs2070106
This is a synonymous variant in the CNP gene — it does not change the protein's amino acid sequence.
▶Research that mentions this SNP (2)
▶A myelin gene causative of a catatonia‐depression syndrome upon agingFunctionalN=1,048Nora Hagemeyer et al.(2012)· EMBO Molecular Medicine
This translational study demonstrates that reduced expression of the CNP gene (via rs2070106 AA genotype) causes a catatonia-depression syndrome upon aging in both transgenic mice and schizophrenic patients ≥40 years old (p=0.009). The phenotype features low-grade brain inflammation, axonal degeneration in the frontal corpus callosum, and increased white matter diffusivity measured by DTI imaging.
▶Convergent Evidence for 2′,3′-Cyclic Nucleotide 3′-Phosphodiesterase as a Possible Susceptibility Gene for SchizophreniaMeta-analysisN=3,903Timothy R. Peirce et al.(2006)· Archives of General Psychiatry
Case-control study and meta-analysis of 5 CNP gene SNPs in 180 Chinese Han subjects (86 cases, 94 controls) and pooled analysis of 4 studies (3903 subjects for rs2070106). Found no significant association between CNP polymorphisms and schizophrenia (rs2070106 pooled OR=1.08, 95% CI 0.95-1.23; rs8078650 pooled OR=1.04, 95% CI 0.83-1.30), and no significant difference in CNP expression levels between patients and controls.
About CNP
Predicted to enable 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity. Involved in substantia nigra development. Located in cytoplasm; extracellular space; and microtubule. Implicated in hypomyelinating leukodystrophy 20; multiple sclerosis; and schizophrenia. Biomarker of alcoholic liver cirrhosis; multiple sclerosis; and restless legs syndrome. [provided by Alliance of Genome Resources, Jul 2025]
View all CNP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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