SH3GL2 Human

The SH3GL2 gene is located on chromosome 9 and encodes a protein that is involved in various cellular processes. The protein contains an SH3 domain, which is essential for its function in signal transduction pathways. The SH3 domain consists of approximately 60 amino acids, forming a structure with five anti-parallel beta strands connected by three loops and a short 3-10 helix .

SH3-domain GRB2-like 2 plays a significant role in synaptic vesicle endocytosis, a process critical for neurotransmission. It is involved in recruiting other proteins to membranes with high curvature, which is essential for the formation of vesicles. This protein is also required for brain-derived neurotrophic factor (BDNF)-dependent dendrite outgrowth, indicating its importance in neuronal development and function .

Additionally, SH3-domain GRB2-like 2 cooperates with other proteins to mediate early endocytic trafficking and signaling from early endosomes. This cooperation is vital for the proper functioning of cellular signaling pathways, particularly those involving the Ras signaling pathway .

Mutations or dysregulation of the SH3GL2 gene have been associated with various diseases. For instance, it has been linked to adenosine deaminase deficiency and congenital myasthenic syndrome. These associations highlight the importance of SH3-domain GRB2-like 2 in maintaining normal cellular functions and its potential role in disease pathogenesis .

Research on SH3-domain GRB2-like 2 has provided insights into its role in cellular signaling and its potential as a therapeutic target. For example, targeting the SH3 domains with specific affinity reagents, such as Affimer proteins, has shown promise in modulating Ras signaling pathways. This approach could lead to the development of novel therapeutic strategies for diseases involving aberrant Ras signaling .