SHOC2 (SHOC2 leucine rich repeat scaffold protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8036
Gene name Gene Name - the full gene name approved by the HGNC.
SHOC2 leucine rich repeat scaffold protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SHOC2
Synonyms (NCBI Gene) Gene synonyms aliases
NSLH1, SIAA0862, SOC2, SUR8
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q25.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602775 15454 ENSG00000108061
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Noonan Syndrome noonan syndrome, Noonan syndrome and Noonan-related syndrome rs267607048 N/A
Noonan-Like Syndrome With Loose Anagen Hair noonan syndrome-like disorder with loose anagen hair 1 rs267607048, rs730881020 N/A
Nonimmune Hydrops Fetalis non-immune hydrops fetalis rs730881020 N/A
Polycystic kidney disease Polycystic kidney disease 4 rs267607048 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cardiofaciocutaneous Syndrome cardiofaciocutaneous syndrome N/A N/A GenCC
Costello Syndrome Costello syndrome N/A N/A GenCC
Hypertrophic Cardiomyopathy Primary familial hypertrophic cardiomyopathy N/A N/A ClinVar
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (43)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Hemolytic Autoimmune Associate 38019730
Brain Diseases Associate 23918763
Breast Neoplasms Associate 31974612, 36420706
Carcinogenesis Associate 23045723
Carcinoma Non Small Cell Lung Associate 33106373
Cardiofaciocutaneous syndrome Associate 24896146, 25137548
Cardiomyopathy Hypertrophic Associate 30732632
Cholangiocarcinoma Associate 37166421
Colorectal Neoplasms Inhibit 23045723
Colorectal Neoplasms Associate 31796117