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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SHOC2
SHOC2 leucine rich repeat scaffold protein
Chromosome 10 · 10q25.2
NCBI Gene: 8036Ensembl: ENSG00000108061.13HGNC: HGNC:15454UniProt: A0A8I5QJS4
85PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein phosphatase bindingpositive regulation of Ras protein signal transductioncytosolNoonan syndrome-like disorder with loose anagen hairNoonan syndromerasopathyneurodegenerative disease
✦AI Summary

SHOC2 is a leucine-rich repeat scaffold protein that serves as the core component of the SHOC2-MRAS-PP1C (SMP) holophosphatase complex, a critical regulator of the MAPK signaling pathway 1. The complex functions by selectively dephosphorylating inhibitory phosphorylation sites on RAF family kinases—specifically Ser-259 on RAF1, Ser-365 on BRAF, and Ser-214 on ARAF—thereby activating their kinase activity and potentiating MAPK signaling 1. SHOC2 binds both PP1C and GTP-loaded MRAS through its concave leucine-rich repeat surface, with initial complex assembly mediated by SHOC2-PP1C interactions and stabilized by MRAS binding 1. In cancer, SHOC2 represents a pharmacologically actionable dependency in RAS(Q61*)-mutant tumors, forming direct interactions with oncogenic NRAS that can be disrupted by small-molecule inhibitors to suppress MAPK signaling and cancer cell proliferation 2. SHOC2 mutations are associated with Noonan syndrome-like disorder with loose anagen hair, a RASopathy caused by gain-of-function variants that enhance holophosphatase activity 1. Additionally, SHOC2 activity contributes to acquired resistance in KRAS G12C-mutant cancers treated with targeted inhibitors 3, making it a relevant therapeutic target in both developmental disorders and cancer contexts 4.

Sources cited
1
SHOC2-MRAS-PP1C complex structure, function, RAF dephosphorylation mechanism, and role in RASopathies
PMID: 35831509
2
SHOC2 as a pharmacological dependency in RAS(Q61*) tumors with direct NRAS interaction and druggability
PMID: 40335703
3
SHOC2 involvement in acquired resistance to KRAS G12C inhibitors through MRAS upregulation
PMID: 39103541
4
RAF activation by SHOC2 phosphatase complex and implications for pathway targeting
PMID: 38316136
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
Noonan syndrome-like disorder with loose anagen hairOpen Targets
0.83Strong
Noonan syndromeOpen Targets
0.62Moderate
rasopathyOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Noonan syndrome and Noonan-related syndromeOpen Targets
0.41Moderate
esophageal carcinomaOpen Targets
0.37Weak
Abnormality of the cardiovascular systemOpen Targets
0.34Weak
genetic disorderOpen Targets
0.34Weak
Houge-Janssens syndrome 2Open Targets
0.34Weak
Pectus excavatumOpen Targets
0.34Weak
polycystic kidney disease 4Open Targets
0.34Weak
adrenal gland hyperfunctionOpen Targets
0.30Weak
Hodgkins lymphomaOpen Targets
0.30Weak
type 2 diabetes mellitusOpen Targets
0.29Weak
Non-immune hydrops fetalisOpen Targets
0.27Weak
cervical carcinomaOpen Targets
0.25Weak
melanomaOpen Targets
0.21Weak
Bardet-Biedl syndromeOpen Targets
0.15Weak
Noonan syndrome 3Open Targets
0.15Weak
systemic lupus erythematosusOpen Targets
0.13Weak
Noonan syndrome-like disorder with loose anagen hair 1UniProt
Pathogenic Variants6
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)Pathogenic
Noonan syndrome-like disorder with loose anagen hair 1|RASopathy|not provided|not specified|Non-immune hydrops fetalis|Cardiovascular phenotype|See cases
★★★☆2024→ Residue 173
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)Pathogenic
Noonan syndrome-like disorder with loose anagen hair 1|not provided|RASopathy|Noonan syndrome|Noonan syndrome-like disorder with loose anagen hair|Noonan syndrome and Noonan-related syndrome|Polycystic kidney disease 4|Pectus excavatum;Noonan syndrome-like disorder with loose anagen hair 1|SHOC2-related disorder|Houge-Janssens syndrome 2|Cardiovascular phenotype
★★★☆2017→ Residue 2
NM_007373.4(SHOC2):c.519G>C (p.Met173Ile)Pathogenic
RASopathy|not provided
★★☆☆2025→ Residue 173
NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg)Likely pathogenic
Noonan syndrome-like disorder with loose anagen hair 1
★☆☆☆2022→ Residue 53
NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr)Pathogenic
Noonan syndrome-like disorder with loose anagen hair 1
☆☆☆☆2020→ Residue 269
NM_007373.4(SHOC2):c.520C>T (p.Leu174Phe)Likely pathogenic
Noonan syndrome
☆☆☆☆2020→ Residue 174
View on ClinVar ↗
Related Genes
MRASProtein interaction100%HRASProtein interaction99%KRASProtein interaction99%RAF1Protein interaction96%RRASProtein interaction96%BRAFProtein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
88%
Heart
69%
Lung
41%
Liver
33%
Ovary
32%
Gene Interaction Network
Click a node to explore
SHOC2MRASHRASKRASRAF1RRASBRAF
PROTEIN STRUCTURE
Preparing viewer…
PDB7T7A · 1.79 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.20Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.06 [0.03–0.20]
RankingsWhere SHOC2 stands among ~20K protein-coding genes
  • #5,638of 20,598
    Most Researched85
  • #3,355of 5,498
    Most Pathogenic Variants6
  • #455of 17,882
    Most Constrained (LOEUF)0.20 · top 5%
Genes detectedSHOC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Targeting the SHOC2-RAS interaction in RAS-mutant cancers.
PMID: 40335703
Nature · 2025
1.00
2
KRAS G12C-mutant driven non-small cell lung cancer (NSCLC).
PMID: 38072173
Crit Rev Oncol Hematol · 2024
0.90
3
Signaling from RAS to RAF: The Molecules and Their Mechanisms.
PMID: 38316136
Annu Rev Biochem · 2024
0.80
4
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol · 2024
0.70
5
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.
PMID: 29907801
Genet Med · 2019
0.60