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

    Gene ID: 8036, updated on 14-Nov-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
    mouse all
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    Genomic context

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    See SHOC2 in Genome Data Viewer
    Location:
    10q25.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (110919370..111013665)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (111803149..111897478)
    RS_2024_09 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 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. Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations. Rigante D, et al. Autoimmun Rev, 2023 Nov. PMID 37793491
    2. Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation. Capalbo D, et al. Ital J Pediatr, 2012 Sep 20. PMID 22995099, Free PMC Article
    3. Shoc2 is targeted to late endosomes and required for Erk1/2 activation in EGF-stimulated cells. Galperin E, et al. PLoS One, 2012. PMID 22606262, Free PMC Article
    4. 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
    5. Single-domain antibodies for functional targeting of the signaling scaffold Shoc2. Jang H, et al. Mol Immunol, 2020 Feb. PMID 31869742, Free PMC Article

    See all (82) 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
    		not available

    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)

    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 
    enables volume-sensitive anion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    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 intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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