RAB2B Human

RAB2B is a gene that encodes a protein belonging to the RAS oncogene family. This family is known for its role in regulating various cellular processes, including growth, differentiation, and vesicular trafficking. The RAB2B protein is a member of the small GTPase superfamily, specifically the Rab protein family, which is involved in intracellular membrane trafficking .

The RAB2B gene is located on chromosome 14 in humans . It encodes a protein that consists of 24,214 Da in its canonical form, with an alternative isoform weighing 16,667 Da . The protein structure includes eight alpha helices and six beta strands, along with a magnesium ion and a GDP molecule . Post-translational modifications include a phosphoserine at position 202 and lipidations at positions 215-216 .

RAB2B plays a crucial role in regulating vesicle transport and membrane fusion. It is involved in the transport of proteins from the endoplasmic reticulum to the Golgi complex . The protein cycles between an active GTP-bound state and an inactive GDP-bound state, which is essential for its function in vesicular trafficking . Additionally, RAB2B is implicated in the regulation of the compacted morphology of the Golgi apparatus and promotes cytosolic DNA-induced innate immune responses .

RAB2B is associated with several cellular pathways, including the metabolism of proteins and Sertoli-Sertoli cell junction dynamics . It also plays a role in the CGAS-STING signaling axis, which is important for innate immune responses against DNA viruses . The protein interacts with various other proteins and is redundantly required with RAB2A for efficient autophagic flux .

Mutations or dysregulation of the RAB2B gene have been associated with certain diseases, such as Cardiofaciocutaneous Syndrome . This highlights the importance of RAB2B in maintaining normal cellular functions and its potential role in disease mechanisms.