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SHOC2 SHOC2 leucine rich repeat scaffold protein [ Homo sapiens (human) ]

Gene ID: 8036, updated on 5-Mar-2024

Summary

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Official Symbol
SHOC2provided by HGNC
Official Full Name
SHOC2 leucine rich repeat scaffold proteinprovided by HGNC
Primary source
HGNC:HGNC:15454
See related
Ensembl:ENSG00000108061 MIM:602775; AllianceGenome:HGNC:15454
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SOC2; SUR8; NSLH1; SIAA0862
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 cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]
Expression
Ubiquitous expression in testis (RPKM 10.0), bone marrow (RPKM 7.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
10q25.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (110919370..111013665)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (111803149..111897478)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (112679128..112773423)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene programmed cell death 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4058 Neighboring gene microRNA 4680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2827 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:112678563-112679102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2829 Neighboring gene BBSome interacting protein 1 Neighboring gene ribosomal protein L13a pseudogene 6 Neighboring gene microRNA 548e Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2830 Neighboring gene adrenoceptor alpha 2A Neighboring gene chromosome 19 open reading frame 53 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. SHOC2 is associated with the survival of breast cancer cells and has prognostic value for patients with breast cancer. Geng W, et al. Mol Med Rep, 2020 Feb. PMID 31974612, Free PMC Article
  2. Single-domain antibodies for functional targeting of the signaling scaffold Shoc2. Jang H, et al. Mol Immunol, 2020 Feb. PMID 31869742, Free PMC Article
  3. Synthetic Lethal Interaction of SHOC2 Depletion with MEK Inhibition in RAS-Driven Cancers. Sulahian R, et al. Cell Rep, 2019 Oct 1. PMID 31577942, Free PMC Article
  4. SHOC2 complex-driven RAF dimerization selectively contributes to ERK pathway dynamics. Boned Del Río I, et al. Proc Natl Acad Sci U S A, 2019 Jul 2. PMID 31213532, Free PMC Article
  5. Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. Motta M, et al. Hum Mutat, 2019 Aug. PMID 31059601

See all (80) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. circCPA4 induces malignant behaviors of prostate cancer via miR-491-5p/SHOC2 feedback loop.
    Title: circCPA4 induces malignant behaviors of prostate cancer via miR-491-5p/SHOC2 feedback loop.
  2. Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations.
    Title: Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations.
  3. SHOC2 mediates the drug-resistance of triple-negative breast cancer cells to everolimus.
    Title: SHOC2 mediates the drug-resistance of triple-negative breast cancer cells to everolimus.
  4. LncRNA FALEC increases the proliferation, migration and drug resistance of cholangiocarcinoma through competitive regulation of miR-20a-5p/SHOC2 axis.
    Title: LncRNA FALEC increases the proliferation, migration and drug resistance of cholangiocarcinoma through competitive regulation of miR-20a-5p/SHOC2 axis.
  5. lncRNA MALAT1 regulates the resistance of breast cancer cells to paclitaxel via the miR-497-5p/SHOC2 axis.
    Title: lncRNA MALAT1 regulates the resistance of breast cancer cells to paclitaxel via the miR-497-5p/SHOC2 axis.
  6. Structure of the SHOC2-MRAS-PP1C complex provides insights into RAF activation and Noonan syndrome.
    Title: Structure of the SHOC2-MRAS-PP1C complex provides insights into RAF activation and Noonan syndrome.
  7. Structure-function analysis of the SHOC2-MRAS-PP1C holophosphatase complex.
    Title: Structure-function analysis of the SHOC2-MRAS-PP1C holophosphatase complex.
  8. Structure of the MRAS-SHOC2-PP1C phosphatase complex.
    Title: Structure of the MRAS-SHOC2-PP1C phosphatase complex.
  9. Structural basis for SHOC2 modulation of RAS signalling.
    Title: Structural basis for SHOC2 modulation of RAS signalling.
  10. Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
    Title: Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Noonan syndrome-like disorder with loose anagen hair 1
MedGen: C4478716 OMIM: 607721 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-09-25)

ClinGen Genome Curation Page
Haploinsufficency

No evidence available (Last evaluated 2018-09-25)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ60412, KIAA0862

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein phosphatase 1 binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein phosphatase binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein phosphatase regulator activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in Ras protein signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cellular response to growth hormone stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in cyclic-GMP-AMP transmembrane import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fibroblast growth factor receptor signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of neural precursor cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in nerve growth factor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of Ras protein signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein phosphatase type 1 complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
leucine-rich repeat protein SHOC-2
Names
soc-2 suppressor of clear homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028922.1 RefSeqGene

    Range
    5001..99125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_753

mRNA and Protein(s)

  1. NM_001269039.3 → NP_001255968.1  leucine-rich repeat protein SHOC-2 isoform 2

    See identical proteins and their annotated locations for NP_001255968.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2 which is shorter, compared to isoform 1.
    Source sequence(s)
    AL158163
    Consensus CDS
    CCDS58095.1
    UniProtKB/Swiss-Prot
    Q9UQ13
    Related
    ENSP00000265277.5, ENST00000265277.10
    Conserved Domains (2) summary
    PLN00113
    Location:115 → 489
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    sd00033
    Location:194 → 216
    LRR_RI; leucine-rich repeat [structural motif]

  2. NM_001324336.2 → NP_001311265.1  leucine-rich repeat protein SHOC-2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 1 and 4, encodes isoform 1.
    Source sequence(s)
    AL158163
    Consensus CDS
    CCDS7568.1
    UniProtKB/Swiss-Prot
    A8K9W8, B3KR23, O76063, Q5VZS8, Q5VZS9, Q9UQ13
    Related
    ENSP00000509273.1, ENST00000688928.1
    Conserved Domains (3) summary
    PLN03150
    Location:453 → 527
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:115 → 483
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    sd00033
    Location:240 → 262
    LRR_RI; leucine-rich repeat [structural motif]

  3. NM_001324337.2 → NP_001311266.1  leucine-rich repeat protein SHOC-2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1 and 3, encodes isoform 1.
    Source sequence(s)
    AL158163
    Consensus CDS
    CCDS7568.1
    UniProtKB/Swiss-Prot
    A8K9W8, B3KR23, O76063, Q5VZS8, Q5VZS9, Q9UQ13
    Related
    ENSP00000509686.1, ENST00000691441.1
    Conserved Domains (3) summary
    PLN03150
    Location:453 → 527
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:115 → 483
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    sd00033
    Location:240 → 262
    LRR_RI; leucine-rich repeat [structural motif]

  4. NM_007373.4 → NP_031399.2  leucine-rich repeat protein SHOC-2 isoform 1

    See identical proteins and their annotated locations for NP_031399.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 3, and 4 all encode the same isoform (1).
    Source sequence(s)
    BC044752, BC050445, DB451165
    Consensus CDS
    CCDS7568.1
    UniProtKB/Swiss-Prot
    A8K9W8, B3KR23, O76063, Q5VZS8, Q5VZS9, Q9UQ13
    Related
    ENSP00000358464.5, ENST00000369452.9
    Conserved Domains (3) summary
    PLN03150
    Location:453 → 527
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:115 → 483
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    sd00033
    Location:240 → 262
    LRR_RI; leucine-rich repeat [structural motif]

RNA

  1. NR_136749.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL158163
    Related
    ENST00000689997.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    110919370..111013665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425796.1 → XP_047281752.1  leucine-rich repeat protein SHOC-2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    111803149..111897478
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366835.1 → XP_054222810.1  leucine-rich repeat protein SHOC-2 isoform X1

  2. XM_054366833.1 → XP_054222808.1  leucine-rich repeat protein SHOC-2 isoform X2

    UniProtKB/Swiss-Prot
    A8K9W8, B3KR23, O76063, Q5VZS8, Q5VZS9, Q9UQ13

  3. XM_054366834.1 → XP_054222809.1  leucine-rich repeat protein SHOC-2 isoform X2

    UniProtKB/Swiss-Prot
    A8K9W8, B3KR23, O76063, Q5VZS8, Q5VZS9, Q9UQ13
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UQ13.2 GenPept UniProtKB/Swiss-Prot:Q9UQ13

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