EPHA4

Chr 2

EPH receptor A4

Also known as: EK8, HEK8, SEK, TYRO1

NCBI Gene: 2043 ENSG00000116106 UniProt: P54764 OMIM: 602188

EPHA4 encodes a receptor tyrosine kinase that binds ephrin ligands and regulates axonal guidance, synaptic plasticity, and nervous system development through control of cell adhesion and morphology. Mutations cause autosomal dominant amyotrophic lateral sclerosis and autosomal recessive developmental and epileptic encephalopathy with microcephaly. This gene is highly constrained against loss-of-function variation, indicating that EPHA4 function is essential for normal development.

OMIM ResearchSummary from RefSeq, UniProt

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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

OMIM 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

0.17

LOEUF· LoF intol.

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Mechanism