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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SHOC2 Gene

protein-coding   GIFtS: 59
GCID: GC10P112679

Soc-2 Suppressor Of Clear Homolog (C. Elegans)

(Previous names: soc-2 (suppressor of clear, C.elegans) homolog)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Soc-2 Suppressor Of Clear Homolog (C. Elegans)1 2     Leucine-Rich Repeat Protein SHOC-22
SIAA08622 5     KIAA08623
SOC22 5     Protein Soc-2 Homolog3
SUR82 5     Protein Sur-8 Homolog3
Soc-2 (Suppressor Of Clear, C.Elegans) Homolog1     

External Ids:    HGNC: 154541   Entrez Gene: 80362   Ensembl: ENSG000001080617   OMIM: 6027755   UniProtKB: Q9UQ133   

Export aliases for SHOC2 gene to outside databases

Previous GC identifers: GC10P111572 GC10P111912 GC10P112810 GC10P112343 GC10P112389 GC10P112669 GC10P106308


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SHOC2 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 cascade. Mutations in this gene have been associated with Noonan-like
syndrome with loose anagen hair. (provided by RefSeq, May 2010)

GeneCards Summary for SHOC2 Gene: 
SHOC2 (soc-2 suppressor of clear homolog (C. elegans)) is a protein-coding gene. Diseases associated with SHOC2 include noonan-like syndrome with loose anagen hair, and lymphangiectasis. GO annotations related to this gene include protein phosphatase binding and protein phosphatase regulator activity. An important paralog of this gene is LRRC7.

UniProtKB/Swiss-Prot: SHOC2_HUMAN, Q9UQ13
Function: Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates
in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the
'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes

Gene Wiki entry for SHOC2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SHOC2 gene promoter:
         AhR   Elk-1   AML1a   FOXD1   XBP-1   Arnt   AREB6   POU2F1   NRF-2   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSHOC2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SHOC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SHOC2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q25   Ensembl cytogenetic band:  10q25.2   HGNC cytogenetic band: 10q25

SHOC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SHOC2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P112679:  view genomic region     (about GC identifiers)

Start:
112,679,301 bp from pter      End:
112,773,425 bp from pter
Size:
94,125 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SHOC2_HUMAN, Q9UQ13 (See protein sequence)
Recommended Name: Leucine-rich repeat protein SHOC-2  
Size: 582 amino acids; 64888 Da
Subunit: Interacts with M-Ras/MRAS, and RAF1. Forms a multiprotein complex with Ras (M-Ras/MRAS), Raf (RAF1) and
protein phosphatase 1 (PPP1CA, PPP1CB and PPP1CC). Interacts with ERBB2IP; disrupts the interaction with RAF1 and
Ras, leading to prevent activation of the Ras signaling pathway. Specifically binds K-Ras/KRAS, M-Ras/MRAS and
N-Ras/NRAS but not H-Ras/HRAS
Subcellular location: Cytoplasm. Nucleus. Note=Translocates from cytoplasm to nucleus upon growth factor
stimulation
Sequence caution: Sequence=BAA74885.2; Type=Erroneous initiation; Sequence=BAG52235.1; Type=Erroneous initiation;
Sequence=CAH72813.1; Type=Erroneous gene model prediction;
Secondary accessions: A8K9W8 B3KR23 O76063 Q5VZS8 Q5VZS9
Alternative splicing: 2 isoforms:  Q9UQ13-1   Q9UQ13-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SHOC2: NX_Q9UQ13

Explore proteomics data for SHOC2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UQ13

  • SHOC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SHOC2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001255968.1  NP_031399.2  

    ENSEMBL proteins: 
     ENSP00000358464   ENSP00000408275   ENSP00000265277  

    Human Recombinant Protein Products for SHOC2: 
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    Novus Biologicals SHOC2 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SHOC2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000164protein phosphatase type 1 complex IDA16630891
    GO:0005634nucleus IDA19684605
    GO:0005737cytoplasm NAS9618511

    SHOC2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR027036 SHOC2
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4
     IPR003591 Leu-rich_rpt_typical-subtyp

    Graphical View of Domain Structure for InterPro Entry Q9UQ13

    ProtoNet protein and cluster: Q9UQ13

    1 Blocks protein domain: IPB001611 Leucine-rich repeat signature

    UniProtKB/Swiss-Prot: SHOC2_HUMAN, Q9UQ13
    Similarity: Belongs to the SHOC2 family
    Similarity: Contains 20 LRR (leucine-rich) repeats


    SHOC2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SHOC2_HUMAN, Q9UQ13
    Function: Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates
    in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the
    'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes

         Genatlas biochemistry entry for SHOC2:
    leucine-rich protein,cytoplasmic,ubiquitously expressed,homolog to C elegans soc2,suppressor of clear
    (clr-1),implicated in fibroblast growth receptor signaling

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0019888protein phosphatase regulator activity TAS16630891
    GO:0019903protein phosphatase binding IDA16630891
         
    SHOC2 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Shoc2):
     cardiovascular system  embryogenesis  growth/size  homeostasis/metabolism  integument 
     mortality/aging  normal  respiratory system 

    SHOC2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Shoc2tm1.2Mhan for SHOC2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SHOC2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SHOC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SHOC2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SHOC2 

    miRNA
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    miRTarBase miRNAs that target SHOC2:
    hsa-mir-16 (MIRT001418)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SHOC2
    8/55 QIAGEN miScript miRNA Assays for microRNAs that regulate SHOC2 (see all 55):
    hsa-miR-4291 hsa-miR-3607-3p hsa-miR-106a hsa-miR-15a hsa-miR-128 hsa-let-7a-2* hsa-miR-30d hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidSHOC2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHOC2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SHOC2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway


    1 BioSystems Pathway for SHOC2
        EGFR1 Signaling Pathway



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SHOC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/636 Interacting proteins for SHOC2 (Q9UQ132, 3 ENSP000003584644) via UniProtKB, MINT, STRING, and/or I2D (see all 636)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KRASP011163, ENSP000002560784I2D: score=4 STRING: ENSP00000256078
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    ERBB2IPQ96RT13, ENSP000003703304I2D: score=2 STRING: ENSP00000370330
    NRASP011113, ENSP000003585484I2D: score=2 STRING: ENSP00000358548
    HRASP011123, ENSP000003098454I2D: score=9 STRING: ENSP00000309845
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007265Ras protein signal transduction NAS9674433
    GO:0008543fibroblast growth factor receptor signaling pathway NAS9618511
    GO:0046579positive regulation of Ras protein signal transduction IMP16630891

    SHOC2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SHOC2

    Search CenterWatch for drugs/clinical trials and news about SHOC2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SHOC2 gene (2 alternative transcripts): 
    NM_001269039.1  NM_007373.3  

    Unigene Cluster for SHOC2:

    Soc-2 suppressor of clear homolog (C. elegans)
    Hs.104315  [show with all ESTs]
    Unigene Representative Sequence: NM_007373
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369452(uc001kzl.4 uc009xxx.3 uc010qrg.2 uc001kzn.3)
    ENST00000480155 ENST00000489390 ENST00000489783 ENST00000451838 ENST00000497305
    ENST00000265277
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SHOC2
    8/55 QIAGEN miScript miRNA Assays for microRNAs that regulate SHOC2 (see all 55):
    hsa-miR-4291 hsa-miR-3607-3p hsa-miR-106a hsa-miR-15a hsa-miR-128 hsa-let-7a-2* hsa-miR-30d hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidSHOC2 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SHOC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHOC2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SHOC2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SHOC2

    Additional mRNA sequence: 

    AB020669.1 AF054828.1 AF068920.1 AK090820.1 AK292833.1 AK293271.1 BC044752.1 BC050445.1 
    BX649055.1 

    8 DOTS entries:

    DT.99953490  DT.315292  DT.121276785  DT.97845369  DT.100795857  DT.121276662  DT.121276759  DT.91766101 

    24/217 AceView cDNA sequences (see all 217):

    AB020669 NM_007373 AL043877 AI206628 AA334388 BM671977 AA463466 F11387 
    AI921303 BI855816 BU430201 AI828246 AA805066 BX951340 AA706082 AL705868 
    BX474627 BQ959409 AI633711 AA765486 AL705893 AA504755 F09053 AF054828 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SHOC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTAGTTTTG
    SHOC2 Expression
    About this image


    See SHOC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SHOC2

    SOURCE GeneReport for Unigene cluster: Hs.104315
        SABiosciences Custom PCR Arrays for SHOC2
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHOC2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SHOC2 gene from 9/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Shoc21 , 5 soc-2 (suppressor of clear) homolog (C. elegans)1, 5 91.92(n)1
    98.45(a)1
      19 (48.83 cM)5
    563921  NM_001168505.11  NP_001161977.11 
     539443065 
    chicken
    (Gallus gallus)
    Aves SHOC21 soc-2 suppressor of clear homolog (C. elegans) 84.5(n)
    94.57(a)
      423894  NM_001031236.1  NP_001026407.1 
    lizard
    (Anolis carolinensis)
    Reptilia SHOC26
    Uncharacterized protein
    91(a)
    1 ↔ 1
    3(45794078-45821837)
    African clawed frog
    (Xenopus laevis)
    Amphibia shoc2-prov2 soc-2 suppressor of clear homolog (C. elegans) 78.76(n)    BC042263.1 
    zebrafish
    (Danio rerio)
    Actinopterygii shoc21 soc-2 suppressor of clear homolog (C. elegans) 75.88(n)
    91.62(a)
      555476  NM_001044786.1  NP_001038251.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sur-81 , 3 RAS interactor3
    CG5407-PA1
    62(a)3
    57.14(n)1
    62.62(a)1
      90A53
    420931  NM_142363.61  NP_650620.31 
    worm
    (Caenorhabditis elegans)
    Secernentea soc-21 , 3 Protein SOC-21 58(a)3
    56.6(n)1
    58(a)1
      IV(5127596-5133964)3
    1772861  NM_171332.21  NP_741391.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GSO11 LRR receptor-like serine/threonine-protein kinase GSO1 43.29(n)
    33.63(a)
      827760  NM_118133.2  NP_193747.2 
    rice
    (Oryza sativa)
    Liliopsida Os07g04984001 hypothetical protein 39.9(n)
    34.45(a)
      4343304  NM_001066245.2  NP_001059710.2 


    ENSEMBL Gene Tree for SHOC2 (if available)
    TreeFam Gene Tree for SHOC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SHOC2 gene
    LRRC72  LRRC22  ERBB2IP2  MFHAS12  LRRC12  LRRC302  LRRIQ42  SCRIB2  
    LRRD12  LRRC10B2  LRRC392  LRRC402  LRRC102  

    SHOC2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1725 SNPs in SHOC2 are shown (see all 1725)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0601994
    Noonan syndrome-like disorder with loose anagen hair (NSLH)4--see VAR_0601992 S G mis40--------
    rs1443791681,2
    Cuntested1113127749(+) GGTCTC/TGTTTC 4 L syn11Minor allele frequency- T:0.00NA 4550
    rs1458886301,2
    --106308231(+) CGAGCA/GAGGAG 1 -- ut510--------
    rs1386125841,2
    --106308237(+) AGGAGA/GATGGC 1 -- ut510--------
    rs1926739351,2
    --106308252(+) TCGGGG/TCTCCT 1 -- ut510--------
    rs1121852461,2
    C--106312201(+) TGAGAA/GAGAGT 1 -- int10--------
    rs1507217131,2
    C--106343021(+) GTCTT-/AATC  
            
    AACTA
    1 -- int10--------
    rs1504387681,2
    C--106364086(+) TTTCC-/TTTG  
            
    TTTAA
    2 -- int10--------
    rs343227661,2
    C--106364092(+) CCTTT-/GTTT  
            
    AATTT
    2 -- int11Minor allele frequency- GTTT:0.50NA 2
    rs1507223351,2
    C--106368376(+) GAATT-/TTGTTGTT 2 -- cds10--------

    HapMap Linkage Disequilibrium report for SHOC2 (112679301 - 112773425 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SHOC2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2674974CNV Deletion23128226
    nsv7548CNV Insertion18451855
    nsv518667CNV Loss19592680
    nsv831985CNV Gain+Loss17160897
    nsv7211OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): SHOC2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SHOC2
    DNA2.0 Custom Variant and Variant Library Synthesis for SHOC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602775   
    OMIM disorders: 607721  
    UniProtKB/Swiss-Prot: SHOC2_HUMAN, Q9UQ13
  • Noonan syndrome-like disorder with loose anagen hair (NSLH) [MIM:607721]: A syndrome characterized by
    Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and
    posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin
    and slow-growing hair. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for SHOC2:    About MalaCards
    noonan-like syndrome with loose anagen hair    lymphangiectasis    noonan syndrome-like disorder    leopard syndrome
    noonan syndrome    costello syndrome    cryptorchidism    breast cancer

    4 diseases from the University of Copenhagen DISEASES database for SHOC2:
    Noonan syndrome     Costello syndrome     LEOPARD syndrome     Cryptorchidism

    SHOC2 for disorders           About GeneDecksing


    Export disorders for SHOC2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SHOC2 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with SHOC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SUR-8, a conserved Ras-binding protein with leucine-rich repeats, positively regulates Ras-mediated signaling in C. elegans. (PubMed id 9674433)1, 2, 3, 9 Sieburth D.S.... Han M. (1998)
    2. Soc-2 encodes a leucine-rich repeat protein implicated in fibroblast growth factor receptor signaling. (PubMed id 9618511)1, 2, 3, 9 Selfors L.M.... Stern M.J. (1998)
    3. The leucine-rich repeat protein SUR-8 enhances MAP kinase activation and forms a complex with Ras and Raf. (PubMed id 10783161)1, 2, 3 Li W.... Guan K.-L. (2000)
    4. Erbin inhibits RAF activation by disrupting the sur-8-Ras-Raf complex. (PubMed id 16301319)1, 2, 9 Dai P.... Mei L. (2006)
    5. A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity. (PubMed id 16630891)1, 2, 9 Rodriguez-Viciana P....McCormick F. (2006)
    6. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. (PubMed id 19684605)1, 2 Cordeddu V.... Tartaglia M. (2009)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T....Ohara O. (1998)
    10. Shoc2 is targeted to late endosomes and required for E rk1/2 activation in EGF-stimulated cells. (PubMed id 22606262)1 Galperin E....Sorkin A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8036 HGNC: 15454 AceView: SHOC2 Ensembl:ENSG00000108061 euGenes: HUgn8036
    ECgene: SHOC2 H-InvDB: SHOC2

    (According to HUGE)
    About This Section
    HUGE: KIAA0862

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SHOC2 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt121.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SHOC2 gene:
    Search GeneIP for patents involving SHOC2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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