rs13232207

This is a splice region variant variant in the PLXNA4 gene.

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ClinVar annotation

Benign
1 submitter

PLXNA4-related disorder

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Research that mentions this SNP (1)

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PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation
AssociationN=31,338Gyungah Jun et al.(2014)· Annals of Neurology

A family-based genome-wide association study identified novel association between PLXNA4 SNPs (rs277470, meta-P=4.1×10⁻⁸) and Alzheimer disease across Framingham Heart Study and NIA-LOAD cohorts. Functional studies show the full-length PLXNA4 isoform (TS1) increases tau phosphorylation when stimulated by SEMA3A, while shorter isoforms have opposite effects. Brain tissue from late-stage AD cases showed 1.9-fold increased TS1 expression (P=1.6×10⁻⁴) correlated with dementia severity and neuropathology, supporting a role for PLXNA4 in tau-mediated AD pathogenesis.

Traits studied:Alzheimer disease
PubMedDOIMetascience Observatory

About PLXNA4

Predicted to enable semaphorin receptor activity. Predicted to be involved in nervous system development; regulation of cell migration; and semaphorin-plexin signaling pathway. Predicted to act upstream of or within nervous system development; regulation of axon extension involved in axon guidance; and regulation of negative chemotaxis. Predicted to be located in membrane. Predicted to be part of semaphorin receptor complex. Predicted to be active in cerebellar climbing fiber to Purkinje cell synapse and plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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