SHOC2

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]

Description

SHOC2 leucine-rich repeat scaffold protein

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

10:q25.2 (110919547 - 111013667)

Ensembl ID

ENSG00000108061  (ver. 84.38)

Orthologs

Mouse Shoc2: ENSMUSG00000024976

UniProt

Q9UQ13

neXtProt

NX_Q9UQ13

Human splice variants
Mouse splice variants