rs2278107
This is a protein-altering variant in the EPHA7 gene.
▶Research that mentions this SNP (1)
▶Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson diseaseAssociationN=374Srinivasan BS et al.(2009)· Human Mutation
This whole genome association study of 374 Caucasians identified a reproducibly associated axon guidance pathway for Parkinson disease, with rs3770208 (EPHA4, log OR=0.5, p=0.0002) and rs9867325 (EPHA7, log OR=0.61, p=8.65e-05) showing the strongest SNP-level associations. Pathway-level analysis with controlled multiple testing revealed ubiquitin-mediated proteolysis (AUC=0.66, p=0.01), T-cell receptor signaling (AUC=0.59, p=0.04), and axon guidance (AUC=0.60, p=0.05) pathways predictive of PD susceptibility. The axon guidance pathway replicated in an independent PD study.
About EPHA7
This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
View all EPHA7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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