Aliases for SHOC2 Gene
External Ids for SHOC2 Gene
Previous GeneCards Identifiers for SHOC2 Gene
This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]
GeneCards Summary for SHOC2 Gene
SHOC2 (SHOC2, Leucine Rich Repeat Scaffold Protein) is a Protein Coding gene. Diseases associated with SHOC2 include Noonan-Like Syndrome With Loose Anagen Hair and Moyamoya Disease. Among its related pathways are Ras signaling pathway and EGFR1 Signaling Pathway. GO annotations related to this gene include protein phosphatase binding and protein phosphatase regulator activity. An important paralog of this gene is LRRC40.
UniProtKB/Swiss-Prot for SHOC2 Gene
Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the Ser-259 inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes.