SH3GL2
Description
The SH3GL2 (SH3 domain containing GRB2 like 2, endophilin A1) is a protein-coding gene located on chromosome 9.
Endophilin-A1 is a protein encoded by the SH3GL2 gene in humans. SH3GL2 has been shown to interact with DNM1, Amphiphysin, ADAM9, SH3KBP1, and ADAM15.
Plays a role in the process of synaptic vesicle endocytosis. May facilitate the recruitment of other proteins to highly curved membranes. Essential for dendrite outgrowth stimulated by BDNF (brain-derived neurotrophic factor). Works together with SH3GL2 to regulate the early endocytic trafficking and signaling of BDNF-NTRK2 from early endosomes.
SH3GL2 is also known as CNSA2, EEN-B1, SH3D2A, SH3P4.
Associated Diseases
- Parkinson disease
- endometrial cancer
- glioblastoma
- retinoblastoma
- autosomal recessive hypophosphatemic rickets
