Overview:

RSK2 is a member of the RSK (ribosomal S6 kinase) family that consists of growth factor-regulated serine/threonine kinases. RSK2 has been shown to mediate growth factor signaling via RAS and MAPK leading to the induction of CREB serine-133 phosphorylation and activation of gene expression (1). Mutations in RSK2 have been shown to be responsible for Coffin-Lowry syndrome (CLS) which is a X-linked disorder characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal deformations (2).

Gene Aliases:

RPS6KA3; HU-3; MAPKAPK1B; CLS; MRX19; ISPK-1; p90-RSK2; pp90RSK2; S6K-alpha3

Genbank Number:

NM_004586

References:

1. Xing, J. et al: Coupling of the RAS-MAPK pathway to gene activation by RSK2, a growth factor-regulated CREB kinase. Science. 1996 Aug 16;273(5277):959-63.

2. Jacquot, S. et al: Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations. Am J Hum Genet. 1998 Dec;63(6):1631-40.