EFNA2
Description
The EFNA2 (ephrin A2) is a protein-coding gene located on chromosome 19.
Ephrin-A2 is a protein encoded by the EFNA2 gene in humans. It belongs to the ephrin family and consists of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. Ephrin-A2 is anchored to the membrane by a glycosylphosphatidylinositol linkage, distinguishing it from the transmembrane ephrin-B class. Posttranslational modifications determine its localization, either to the nucleus or cytoplasm. EPH and EPH-related receptors are the largest subfamily of receptor protein-tyrosine kinases, implicated in mediating developmental events, particularly in the nervous system.
EFNA2 is also known as ELF-1, EPLG6, HEK7-L, LERK-6, LERK6.
Associated Diseases
- schizophrenia 15
- Phelan-McDermid syndrome
- Potocki-Lupski syndrome
- Smith-Magenis syndrome
- intellectual developmental disorder, X-linked, syndromic, Pilorge type
- FRAXE intellectual disability
- cancer
- gastric cancer
