EFNA5

Chr 5

ephrin A5

Also known as: AF1, EFL5, EPLG7, GLC1M, LERK7, RAGS

NCBI Gene: 1946 ENSG00000184349 UniProt: P52803

Ephrin-A5 is a GPI-anchored cell surface ligand that binds to EphA receptors to mediate bidirectional signaling essential for neuronal migration, axon guidance, and cell-cell adhesion during brain development. The gene is highly intolerant to loss-of-function variants (pLI=0.96), but no specific human disease has been definitively associated with EFNA5 mutations. Based on its critical role in neural development and extreme constraint against variation, mutations would likely cause neurodevelopmental disorders with an autosomal dominant inheritance pattern.

ResearchSummary from RefSeq, UniProt

Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). 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 similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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