RASGRP4 Gene - Function, Expression, and Disease Associations

RASGRP4 encodes a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family. The protein contains a Ras exchange motif, a DAG/phorbol ester-binding domain, and calcium-binding EF-hand motifs. It functions as a guanine nucleotide exchange factor (GEF) for Ras and Rap1, activating these small GTPases in response to diacylglycerol (DAG) and calcium signals. RASGRP4 is primarily expressed in myeloid cells and plays a role in mast cell development, immune responses, and hematopoiesis.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• RAS signaling pathway (Reactome R-HSA-167044)

• Rap1 signaling pathway (KEGG hsa04015)

• Calcium signaling pathway (KEGG hsa04020)

• Fc epsilon RI signaling pathway (KEGG hsa04664)

RASGRP4 is a 609-amino acid protein with a molecular weight of approximately 69 kDa. It contains an N-terminal Ras exchange motif (REM), a CDC25 homology domain responsible for GEF activity, two EF-hand calcium-binding domains, and a C1 domain that binds diacylglycerol. The protein localizes to the plasma membrane upon activation and mediates RAS and RAP1 activation in response to intracellular calcium and DAG. It is essential for proper mast cell development and function.