SHOC2

Chr 10

SHOC2 leucine rich repeat scaffold protein

Also known as: NSLH1, SIAA0862, SOC2, SUR8

NCBI Gene: 8036 ENSG00000108061 UniProt: Q9UQ13

The protein functions as a scaffolding component of the SHOC2-MRAS-PP1c complex that regulates MAPK pathway activation by dephosphorylating inhibitory sites on RAF kinases. Mutations cause Noonan syndrome-like with loose anagen hair 1, an autosomal dominant condition affecting growth, development, cardiac function, and hair structure. The gene is highly constrained against loss-of-function variants in the population, indicating that functional copies are essential for normal development.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNoonan syndrome-like disorder with loose anagen hair 1

Clinical highlights

Gene-disease validity (ClinGen)

Noonan syndrome-like disorder with loose anagen hair · ADDefinitivesufficient evidence for diagnostic panels4 gene-disease associations curated in total

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.14

LOEUF· LoF intol.

GOF*

Mechanism· G2P

Some data sources returned errors (1)

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