SHOC2 (SHOC2 leucine rich repeat scaffold protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8036
Gene name SHOC2 leucine rich repeat scaffold protein
Gene symbol SHOC2
Synonyms (NCBI Gene)
NSLH1SIAA0862SOC2SUR8
Chromosome 10
Chromosome location 10q25.2
Summary 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
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs200215822 G>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
rs267607048 A>G Pathogenic Coding sequence variant, intron variant, missense variant
rs730881018 A>C,G Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, intron variant, missense variant
rs730881020 G>A,T Uncertain-significance, pathogenic Coding sequence variant, intron variant, missense variant
rs1057518206 A>G Likely-pathogenic Intron variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1866
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1866)
miRTarBase ID miRNA Experiments Reference
MIRT001418 hsa-miR-16-5p pSILAC 18668040
MIRT017593 hsa-miR-335-5p Microarray 18185580
MIRT027120 hsa-miR-103a-3p Sequencing 20371350
MIRT029283 hsa-miR-26b-5p Microarray 19088304
MIRT001418 hsa-miR-16-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0000164 Component Protein phosphatase type 1 complex IDA 16630891, 25137548, 35768504, 35830882, 35831509, 36175670
GO:0005515 Function Protein binding IPI 25137548, 35768504, 35830882, 35831509, 36175670
GO:0005634 Component Nucleus IDA 19684605
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602775 15454 ENSG00000108061
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UQ13
Protein name Leucine-rich repeat protein SHOC-2 (Protein soc-2 homolog) (Protein sur-8 homolog)
Protein function 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
PDB 7SD0 , 7SD1 , 7T7A , 7TVF , 7TVG , 7TXH , 7TYG , 7UPI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 123 → 181 Leucine rich repeat Repeat
PF13855 LRR_8 192 → 250 Leucine rich repeat Repeat
PF13855 LRR_8 284 → 343 Leucine rich repeat Repeat
PF13855 LRR_8 402 → 460 Leucine rich repeat Repeat
PF13855 LRR_8 471 → 528 Leucine rich repeat Repeat
Sequence 
MSSSLGKEKDSKEKDPKVPSAKEREKEAKASGGFGKESKEKEPKTKGKDAKDGKKDSSAA
QPGVAFSVDNTIKRPNPAPGTRKKSSNAEVIKELNKCREENSMRLDLSKRSIHILPSSIK
ELTQLTELYLYSNKLQSLPAEVGCLVNLMTLALSENSLTSLPDSLDNLKKLRMLDLRHNK
LREIPSVVYRLDSLTTLYLRFNRITTVEKDIKNLSKLSMLSIRENKIKQLPAEIGELCNL
ITLDVAHNQLEHLPKEIGNCTQITNLDLQHNELLDLPDTIGNLSSLSRLGLRYNRLSAIP
RSLAKCSALEELNLENNNISTLPESLLSSLVKLNSLTLARNCFQLYPVGGPSQFSTIYSL
NMEHNRINKIPFGIFSRAKVLSKLNMKDNQLTSLPLDFGTWTSMVELNLATNQLTKIPED
VSGLVSLEVLILSNNLLKKLPHGLGNLRKLRELDLEENKLESLPNEIAYLKDLQKLVLTN
NQLTTLPRGIGHLTNLTHLGLGENLLTHLPEEIGTLENLEELYLNDNPNLHSLPFELALC
SKLSIMSIENCPLSHLPPQIVAGGPSFIIQFLKMQGPYRAMV
Sequence length 582
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Ras signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (11)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiovascular phenotype Pathogenic rs730881020, rs267607048 RCV002336369
RCV006276134
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Houge-Janssens syndrome 2 Pathogenic rs267607048 RCV006261934
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-immune hydrops fetalis Pathogenic rs730881020 RCV001376015
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome Likely pathogenic; Pathogenic rs2134121762, rs267607048 RCV002274220
RCV000208379
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (17)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANXIETY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIO-FACIO-CUTANEOUS SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOFACIOCUTANEOUS SYNDROME — ClinGen
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (103)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Hemolytic Autoimmune Autoimmune hemolytic anemia Pubtator 38019730 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 23918763 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31974612, 36420706 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23045723 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30865892, 31182717
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome BEFREE 20882035
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome CLINGEN_DG 20882035
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome Pubtator 24896146, 25137548 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations