Aliases: ELK, EPHT2, Hek6, NET
Chromosome No: 3
Chromosome Band: 3q22.2
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 10
Recent Reports: 1
Annotated variants: 32
Associated CNVs: 5
Evidence score: 4
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Relevance to Autism
De novo variants in the EPHB1 gene have been identified in ASD probands in mutiple studies, including two de novo missense variants in ASD probands from the Simons Simplex Collection and a de novo frameshift variant in an ASD proband from the Autism Sequencing Consortium (Kong et al., 2012; Iossifov et al., 2014; Sanders et al., 2015; Yuen et al., 2016; Yuen et al., 2017; Turner et al., 2017; Werling et al., 2018; Satterstrom et al., 2020). Functional assessment of the ASD-associated p.Val916Met missense variant, which was originally observed in an SSC proband, in Drosophila using an overexpression-based strategy in Macrogliese et al., 2022 demonstrated that flies overexpressing EPHB1-p.Val916Met presented with a complex phenotype characterized by a loss-of-function effect in eyes and a gain-of-function effect in wings.
Molecular Function
Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of 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. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members.
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