REPS2
Description
The REPS2 (RALBP1 associated Eps domain containing 2) is a protein-coding gene located on chromosome X.
REPS2 is a protein encoded by the REPS2 gene in humans. It is part of a protein complex that regulates the endocytosis of growth factor receptors. REPS2 interacts directly with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. REPS2 has been shown to interact with EPN1, EPS15, and RALBP1.
REPS2 participates in the ligand-dependent receptor-mediated endocytosis of epidermal growth factor (EGF) and insulin receptors, functioning within the Ral signaling pathway. It influences cell survival by regulating the internalization of growth factor receptors. Through interaction with ASAP1, REPS2 may regulate cell adhesion and migration.
REPS2 is also known as POB1.
Associated Diseases
- West syndrome
- developmental and epileptic encephalopathy, 1
- developmental and epileptic encephalopathy
- infantile epileptic-dyskinetic encephalopathy
- early-onset non-syndromic cataract
- hereditary hyperferritinemia with congenital cataracts
- isolated ectopia lentis
- cataract 13 with adult I phenotype
- cataract 38
- cataract
- hypoparathyroidism, familial isolated, 2
- Lisch epithelial corneal dystrophy
