rs10465543

This is a intron variant variant in the EPHB2 gene.

Research that mentions this SNP (1)

Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas
AssociationN=3,494Parra EJ et al.(2011)· Diabetologia

This genome-wide association study of type 2 diabetes in 967 Mexican cases and 343 normoglycaemic controls, meta-analyzed with a Mexican-American sample (1,804 cases, 780 controls), identified genome-wide significant associations (p<5×10⁻⁸) in HNF1A (rs7305618, OR=1.69) and CDKN2A/CDKN2B (rs1333051, OR=1.32), with suggestive associations in IGF2BP2 (rs1374910, OR=1.30), KCNQ1 (rs2237892, OR=1.26), and a novel locus near C14orf70 (rs730570, OR=1.21). Follow-up in the DIAGRAM+ European dataset confirmed HNF1A and KCNQ1 regions.

Traits studied:Type 2 diabetes

About EPHB2

This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. They bind ligands called ephrins and are involved in diverse cellular processes including motility, division, and differentiation. A distinguishing characteristic of Eph-ephrin signaling is that both receptors and ligands are competent to transduce a signaling cascade, resulting in bidirectional signaling. This protein belongs to a subgroup of the Eph receptors called EphB. Proteins of this subgroup are distinguished from other members of the family by sequence homology and preferential binding affinity for membrane-bound ephrin-B ligands. Allelic variants are associated with prostate and brain cancer susceptibility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

View all EPHB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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