EFNB2

Chr 13

ephrin B2

Also known as: EPLG5, HTKL, Htk-L, LERK5, ephrin-B2

NCBI Gene: 1948 ENSG00000125266 UniProt: P52799 OMIM: 600527

This gene encodes ephrin-B2, a transmembrane ligand that binds to Eph receptor tyrosine kinases and mediates bidirectional cell signaling crucial for neuronal migration, vascular development, and heart morphogenesis. Mutations cause autosomal dominant capillary malformation-arteriovenous malformation syndrome, which presents with vascular malformations affecting skin and potentially brain, heart, and other organs. The gene is highly constrained against loss-of-function variants, reflecting its essential role in development.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. 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. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

congenital heart disease · ADLimitednot for standalone diagnostic reporting

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)

—

P/LP submissions

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P/LP missense

0.22

LOEUF· LoF intol.

LOF

Mechanism· predicted