RASGRP2
Developmental stage
Expressed in fetal brain, lung, liver and kidney.
Domain
The N-terminal Ras-GEF domain mediates association with F-actin.
Function
Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through the exchange of bound GDP for GTP. May also activate other GTPases such as RRAS, RRAS2, NRAS, KRAS but not HRAS. Functions in aggregation of platelets and adhesion of T-lymphocytes and neutrophils probably through inside-out integrin activation. May function in the muscarinic acetylcholine receptor M1/CHRM1 signaling pathway.
Involvement in disease
Bleeding disorder, platelet-type, 18
BDPLT18
A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Isoform 2 is palmitoylated and myristoylated.
Sequence Similarities
Belongs to the RASGRP family.
Tissue Specificity
Detected in platelets, neutrophils and T lymphocytes (at protein level). Expressed in brain where it is enriched in the striatum. Also expressed in the hematopoietic system. Detected in heart, brain, lung, placenta, liver, skeletal muscle and kidney.
Cellular localization
- Cytoplasm
- Cytosol
- Cell membrane
- Peripheral membrane protein
- Synapse
- Synaptosome
- Cell projection
- Ruffle membrane
- Peripheral membrane protein
- Found both in the cytosol and associated with membranes. Isoform 2 mainly localizes to the cell membrane. Enriched at juxtamembrane areas and membrane ruffles through association with F-actin. Localizes to the cell bodies and axons of striatal neurons (By similarity).
Alternative names
CDC25L, MCG7, RASGRP2, RAS guanyl-releasing protein 2, Calcium and DAG-regulated guanine nucleotide exchange factor I, Cdc25-like protein, F25B3.3 kinase-like protein, CalDAG-GEFI, hCDC25L