rs3132935

This variant is located in the NOTCH4 gene.

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Research that mentions this SNP (1)

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A Comprehensive Family-Based Replication Study of Schizophrenia Genes
AssociationN=28,251Karolina A. Aberg et al.(2013)· JAMA Psychiatry

This comprehensive family-based replication study tested 8,107 SNPs in 6,298 individuals (3,286 schizophrenia cases) from 1,811 nuclear families, following a meta-analysis of 18 schizophrenia GWAS studies. The study replicated major findings in TCF4 (P=2.53×10⁻¹⁰) and NOTCH4 (P=3.16×10⁻⁷), and identified novel susceptibility loci including POM121L2 (P=3.51×10⁻⁷), AS3MT (P=9.01×10⁻⁷), CNNM2 (P=6.07×10⁻⁷), and NT5C2 (P=4.09×10⁻⁷). Pathway analyses revealed significant enrichment in neuronal function (axonal guidance, neuronal systems, L1 cell adhesion) and immune system pathways (antigen processing, T-cell adhesion molecules).

Traits studied:Schizophrenia
PubMedDOIMetascience Observatory

About NOTCH4

This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

View all NOTCH4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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