DISEASES

Disease-gene associations mined from literature

Literature associating RASGRP2 and Stormorken syndrome

RASGRP2 [ENSP00000338864]

Calcium and DAG-regulated guanine nucleotide exchange factor I; Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through the exchange of bound GDP for GTP. May also activates 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; Belongs to the RASGRP family.

Synonyms:  RASGRP2,  RASGRP2p,  hRASGRP2,  A6NHE2,  A6NJ28 ...

Linkouts:  STRING  Pharos  UniProt  OMIM