EPHA6

Chr 3

EPH receptor A6

Also known as: EHK-2, EHK2, EK12, EPA6, HEK12, PRO57066

NCBI Gene: 285220 ENSG00000080224 UniProt: Q9UF33 OMIM: 600066

EPHA6 encodes a receptor tyrosine kinase that binds ephrin-A ligands to mediate bidirectional cell signaling important for axon guidance and neural development. Mutations cause autosomal recessive spastic paraplegia and intellectual disability. The gene shows significant constraint against loss-of-function variants (LOEUF 0.357), indicating intolerance to disruption.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable transmembrane-ephrin receptor activity. Predicted to be involved in axon guidance and ephrin receptor signaling pathway. Predicted to be located in membrane. Predicted to be active in dendrite and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)