SHOC2

Chr 10q25.2

SHOC2 leucine rich repeat scaffold protein

Aliases:: KIAA0862, SOC2, SUR-8, SOC-2, SUR8
MANE:: ENST00000369452.9

OMIM: 602775 ↗NCBI: 8036 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SHOC2 · Q9UQ13

v62025-08-01

Predicted Aligned Error matrix for SHOC2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.5/ 100

Confident

582 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)2%
Low(50–70)1%
Very low(< 50)14%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal hydrops
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

Noonan syndrome-like disorder with loose anagen hair
0.83
Noonan syndrome
0.62
RASopathy
0.55
neurodegenerative disease
0.46
Abnormality of the cardiovascular system
0.45
Noonan syndrome and Noonan-related syndrome
0.41
carcinoma of esophagus
0.37
Houge-Janssens syndrome 2
0.34
polycystic kidney disease 4
0.34
Pectus excavatum
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Leucine-rich repeat protein SHOC-2

Core component of the SHOC2-MRAS-PP1c (SMP) holophosphatase complex that regulates activation of the MAPK pathway (PubMed:10783161, PubMed:16630891, PubMed:25137548, PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670). Acts as a scaffolding protein in the SMP complex (PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670). The SMP complex specifically dephosphorylates the inhibitory phosphorylation at 'Ser-259' of RAF1 kinase, 'Ser-365' of BRAF kinase and 'Ser-214' of ARAF kinase, stimulating their kinase activities (PubMed:10783161, PubMed:16630891, PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670). The SMP complex enhances the dephosphorylation activity and substrate specificity of PP1c (PubMed:35768504, PubMed:36175670). Acts as an inhibitor of keratinocyte differentiation via interaction with RAS protein complexes that promote ERK activation (PubMed:23524970)