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Aliases for SHOC2 Gene

Aliases for SHOC2 Gene

  • SHOC2, Leucine Rich Repeat Scaffold Protein 2 3 5
  • Soc-2 (Suppressor Of Clear, C.Elegans) Homolog 2
  • Soc-2 Suppressor Of Clear Homolog (C. Elegans) 2
  • SHOC2 Leucine-Rich Repeat Scaffold Protein 2
  • Leucine-Rich Repeat Protein SHOC-2 3
  • Soc-2 Suppressor Of Clear Homolog 3
  • Protein Soc-2 Homolog 4
  • Protein Sur-8 Homolog 4
  • SIAA0862 3
  • KIAA0862 4
  • SOC2 3
  • SUR8 3

External Ids for SHOC2 Gene

Previous GeneCards Identifiers for SHOC2 Gene

  • GC10P111572
  • GC10P111912
  • GC10P112810
  • GC10P112343
  • GC10P112389
  • GC10P112669
  • GC10P106308
  • GC10P112679

Summaries for SHOC2 Gene

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 (SHOC2, Leucine Rich Repeat Scaffold Protein) is a Protein Coding gene. Diseases associated with SHOC2 include Noonan-Like Syndrome With Loose Anagen Hair and Exhibitionism. Among its related pathways are MAP Kinase Signaling and Ras signaling pathway. GO annotations related to this gene include protein phosphatase binding and protein phosphatase regulator activity. An important paralog of this gene is SCRIB.

UniProtKB/Swiss-Prot for SHOC2 Gene

  • 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHOC2 Gene

Genomics for SHOC2 Gene

Regulatory Elements for SHOC2 Gene

Enhancers for SHOC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G110857 2.1 FANTOM5 Ensembl ENCODE dbSUPER 22.1 -53.4 -53374 18.0 CREB3L1 MLX FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 MEF2D SHOC2 PDCD4 BBIP1 ADRA2A ENSG00000270589 DUSP5 ENSG00000232470 RNA5SP327
GH10G110883 1.5 Ensembl ENCODE dbSUPER 11.3 -35.5 -35496 0.8 FOXA2 ATF1 MLX ARID4B YY1 SLC30A9 SP5 ZHX2 REST MIER2 BBIP1 SHOC2 MIR4680 PDCD4-AS1
GH10G110992 0.9 Ensembl ENCODE 11.3 +73.6 73609 1.4 GATAD2A PKNOX1 CBFB EP300 PRDM6 CEBPA HNF4A FOS SHOC2 BBIP1 ADRA2A ENSG00000232470 PDCD4 MIR548E GC10P111035
GH10G110832 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.3 -79.2 -79227 15.0 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 YBX1 YY1 ZNF207 RBM20 PDCD4 PDCD4-AS1 ENSG00000232470 SHOC2 SMC3 RNA5SP327
GH10G110851 1.4 Ensembl ENCODE dbSUPER 6.4 -66.9 -66880 3.3 ELF3 PKNOX1 FOXA2 MLX ARID4B SIN3A RAD21 RARA YY1 FOS SHOC2 XPNPEP1 ENSG00000270589 PDCD4 ENSG00000232470 RNA5SP327
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SHOC2 on UCSC Golden Path with GeneCards custom track

Promoters for SHOC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000033405 57 3201 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for SHOC2 Gene

Chromosome:
10
Start:
110,919,543 bp from pter
End:
111,013,667 bp from pter
Size:
94,125 bases
Orientation:
Plus strand

Genomic View for SHOC2 Gene

Genes around SHOC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHOC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHOC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHOC2 Gene

Proteins for SHOC2 Gene

  • Protein details for SHOC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQ13-SHOC2_HUMAN
    Recommended name:
    Leucine-rich repeat protein SHOC-2
    Protein Accession:
    Q9UQ13
    Secondary Accessions:
    • A8K9W8
    • B3KR23
    • O76063
    • Q5VZS8
    • Q5VZS9

    Protein attributes for SHOC2 Gene

    Size:
    582 amino acids
    Molecular mass:
    64888 Da
    Quaternary structure:
    • 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 ERBIN; 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.
    SequenceCaution:
    • Sequence=BAA74885.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG52235.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH72813.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SHOC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHOC2 Gene

Post-translational modifications for SHOC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SHOC2 Gene

Domains & Families for SHOC2 Gene

Protein Domains for SHOC2 Gene

Suggested Antigen Peptide Sequences for SHOC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UQ13

UniProtKB/Swiss-Prot:

SHOC2_HUMAN :
  • Belongs to the SHOC2 family.
Family:
  • Belongs to the SHOC2 family.
genes like me logo Genes that share domains with SHOC2: view

No data available for Gene Families for SHOC2 Gene

Function for SHOC2 Gene

Molecular function for SHOC2 Gene

GENATLAS Biochemistry:
leucine-rich protein,cytoplasmic,ubiquitously expressed,homolog to C elegans soc2,suppressor of clear (clr-1),implicated in fibroblast growth receptor signaling
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for SHOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25137548
GO:0008157 protein phosphatase 1 binding IDA 25137548
GO:0019888 protein phosphatase regulator activity TAS 16630891
GO:0019903 protein phosphatase binding IDA 16630891
genes like me logo Genes that share ontologies with SHOC2: view
genes like me logo Genes that share phenotypes with SHOC2: view

Human Phenotype Ontology for SHOC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SHOC2 Gene

MGI Knock Outs for SHOC2:

Animal Model Products

CRISPR Products

miRNA for SHOC2 Gene

miRTarBase miRNAs that target SHOC2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SHOC2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SHOC2 Gene

Localization for SHOC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHOC2 Gene

Cytoplasm. Nucleus. Note=Translocates from cytoplasm to nucleus upon growth factor stimulation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SHOC2 gene
Compartment Confidence
nucleus 5
cytosol 5
endosome 1

Gene Ontology (GO) - Cellular Components for SHOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000164 protein phosphatase type 1 complex IDA 16630891
GO:0005634 nucleus IEA,IDA 19684605
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm NAS 9618511
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SHOC2: view

Pathways & Interactions for SHOC2 Gene

genes like me logo Genes that share pathways with SHOC2: view

Pathways by source for SHOC2 Gene

1 Cell Signaling Technology pathway for SHOC2 Gene
1 KEGG pathway for SHOC2 Gene

SIGNOR curated interactions for SHOC2 Gene

Activates:

Gene Ontology (GO) - Biological Process for SHOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007265 Ras protein signal transduction NAS 9674433
GO:0008543 fibroblast growth factor receptor signaling pathway NAS 9618511
GO:0046579 positive regulation of Ras protein signal transduction IMP 16630891
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with SHOC2: view

Drugs & Compounds for SHOC2 Gene

No Compound Related Data Available

Transcripts for SHOC2 Gene

Unigene Clusters for SHOC2 Gene

Soc-2 suppressor of clear homolog (C. elegans):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SHOC2

Alternative Splicing Database (ASD) splice patterns (SP) for SHOC2 Gene

No ASD Table

Relevant External Links for SHOC2 Gene

GeneLoc Exon Structure for
SHOC2
ECgene alternative splicing isoforms for
SHOC2

Expression for SHOC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SHOC2 Gene

Protein differential expression in normal tissues from HIPED for SHOC2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SHOC2 Gene



Protein tissue co-expression partners for SHOC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SHOC2 Gene:

SHOC2

SOURCE GeneReport for Unigene cluster for SHOC2 Gene:

Hs.104315

Evidence on tissue expression from TISSUES for SHOC2 Gene

  • Nervous system(4.7)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SHOC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SHOC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SHOC2 Gene

Orthologs for SHOC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SHOC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHOC2 34 35
  • 99.83 (n)
oppossum
(Monodelphis domestica)
Mammalia SHOC2 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SHOC2 34 35
  • 96.05 (n)
dog
(Canis familiaris)
Mammalia SHOC2 34 35
  • 95.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SHOC2 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Shoc2 34 16 35
  • 91.92 (n)
rat
(Rattus norvegicus)
Mammalia Shoc2 34
  • 90.55 (n)
chicken
(Gallus gallus)
Aves SHOC2 34 35
  • 84.5 (n)
lizard
(Anolis carolinensis)
Reptilia SHOC2 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia shoc2 34
  • 77.4 (n)
African clawed frog
(Xenopus laevis)
Amphibia shoc2-prov 34
zebrafish
(Danio rerio)
Actinopterygii shoc2 34 35
  • 74.93 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004485 34
  • 59.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sur-8 36 34 35
  • 57.21 (n)
worm
(Caenorhabditis elegans)
Secernentea soc-2 36 34 35
  • 56.6 (n)
rice
(Oryza sativa)
Liliopsida Os10g0119200 34
  • 44.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 58 (a)
OneToOne
Species where no ortholog for SHOC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SHOC2 Gene

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

Paralogs for SHOC2 Gene

genes like me logo Genes that share paralogs with SHOC2: view

Variants for SHOC2 Gene

Sequence variations from dbSNP and Humsavar for SHOC2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs267607048 Pathogenic, Noonan syndrome-like disorder with loose anagen hair (NSLH) [MIM:607721] 110,964,362(+) CCATG(A/G)GTAGT intron-variant, reference, missense
rs730881020 Pathogenic, Noonan syndrome-like disorder with loose anagen hair (NSLH) [MIM:607721] 110,964,877(+) CGGAT(A/G)CTTGA intron-variant, reference, missense
rs1057518206 Likely pathogenic 110,964,875(+) TGCGG(A/G)TGCTT intron-variant, reference, missense
rs114628508 Likely benign 111,012,591(+) GTTTG(A/G)GGGAA nc-transcript-variant, utr-variant-3-prime
rs118172559 Likely benign 111,012,924(+) GCACA(A/C/G)TATCT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SHOC2 Gene

Variant ID Type Subtype PubMed ID
dgv974n100 CNV loss 25217958
dgv975n100 CNV loss 25217958
esv2674974 CNV deletion 23128226
esv3624545 CNV loss 21293372
nsv1035422 CNV loss 25217958
nsv1035602 CNV loss 25217958
nsv1047412 CNV loss 25217958
nsv1143517 CNV deletion 24896259
nsv518667 CNV loss 19592680
nsv7211 OTHER inversion 18451855
nsv7548 CNV insertion 18451855
nsv831985 CNV gain+loss 17160897
nsv948185 CNV duplication 23825009

Variation tolerance for SHOC2 Gene

Residual Variation Intolerance Score: 23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 20.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SHOC2 Gene

Human Gene Mutation Database (HGMD)
SHOC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHOC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHOC2 Gene

Disorders for SHOC2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SHOC2 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
noonan-like syndrome with loose anagen hair
  • noonan syndrome-like disorder with loose anagen hair
exhibitionism
paraphilia disorder
moyamoya disease
  • moyamoya disease 3
lentiginosis, inherited patterned
  • familial generalized lentiginosis
- elite association - COSMIC cancer census association via MalaCards
Search SHOC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SHOC2_HUMAN
  • 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. {ECO:0000269 PubMed:19684605, ECO:0000269 PubMed:23918763, ECO:0000269 PubMed:25137548}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SHOC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SHOC2
genes like me logo Genes that share disorders with SHOC2: view

No data available for Genatlas for SHOC2 Gene

Publications for SHOC2 Gene

  1. Soc-2 encodes a leucine-rich repeat protein implicated in fibroblast growth factor receptor signaling. (PMID: 9618511) Selfors L.M. … Stern M.J. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 22 64
  2. SUR-8, a conserved Ras-binding protein with leucine-rich repeats, positively regulates Ras-mediated signaling in C. elegans. (PMID: 9674433) Sieburth D.S. … Han M. (Cell 1998) 2 3 4 22 64
  3. Erbin inhibits RAF activation by disrupting the sur-8-Ras-Raf complex. (PMID: 16301319) Dai P. … Mei L. (J. Biol. Chem. 2006) 3 4 22 64
  4. A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity. (PMID: 16630891) Rodriguez-Viciana P. … McCormick F. (Mol. Cell 2006) 3 4 22 64
  5. The leucine-rich repeat protein SUR-8 enhances MAP kinase activation and forms a complex with Ras and Raf. (PMID: 10783161) Li W. … Guan K.-L. (Genes Dev. 2000) 2 3 4 64

Products for SHOC2 Gene

  • Addgene plasmids for SHOC2

Sources for SHOC2 Gene

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