Human Gene SHOC2 (ENST00000369452.9) Description and Page Index
  Description: Homo sapiens SHOC2 leucine rich repeat scaffold protein (SHOC2), transcript variant 5, non-coding RNA. (from RefSeq NR_136749)
RefSeq Summary (NM_007373): 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].
Gencode Transcript: ENST00000369452.9
Gencode Gene: ENSG00000108061.12
Transcript (Including UTRs)
   Position: hg38 chr10:110,919,604-111,013,665 Size: 94,062 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr10:110,964,359-111,011,818 Size: 47,460 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:110,919,604-111,013,665)mRNA (may differ from genome)Protein (582 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SHOC2_HUMAN
DESCRIPTION: RecName: Full=Leucine-rich repeat protein SHOC-2; AltName: Full=Protein soc-2 homolog; AltName: Full=Protein sur-8 homolog;
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.
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.
DISEASE: Defects in SHOC2 are the cause of 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.
SIMILARITY: Belongs to the SHOC2 family.
SIMILARITY: Contains 20 LRR (leucine-rich) repeats.
SEQUENCE CAUTION: Sequence=BAA74885.2; Type=Erroneous initiation; Sequence=BAG52235.1; Type=Erroneous initiation; Sequence=CAH72813.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=Protein Spotlight; Note=The matchmaker - Issue 121 of September 2010; URL="http://web.expasy.org/spotlight/back_issues/sptlt121.shtml";

-  MalaCards Disease Associations
  MalaCards Gene Search: SHOC2
Diseases sorted by gene-association score: noonan-like syndrome with loose anagen hair* (1280), exhibitionism (11), paraphilia disorder (11), moyamoya disease (8), cardiofaciocutaneous syndrome (5), noonan syndrome 1 (4), cardiomyopathy, familial hypertrophic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.66 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 513.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -72.70288-0.252 Picture PostScript Text
3' UTR -448.801847-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001611 - Leu-rich_rpt
IPR025875 - Leu-rich_rpt_2_copies
IPR003591 - Leu-rich_rpt_typical-subtyp

Pfam Domains:
PF00560 - Leucine Rich Repeat
PF12799 - Leucine Rich repeats (2 copies)

ModBase Predicted Comparative 3D Structure on Q9UQ13
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologGenome BrowserGenome BrowserNo ortholog
      
      
 RGDEnsemblEnsemblWormBase 
 Protein Sequence Protein SequenceProtein Sequence 
 Alignment AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008157 protein phosphatase 1 binding
GO:0019888 protein phosphatase regulator activity
GO:0019903 protein phosphatase binding

Biological Process:
GO:0007265 Ras protein signal transduction
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0043666 regulation of phosphoprotein phosphatase activity
GO:0046579 positive regulation of Ras protein signal transduction

Cellular Component:
GO:0000164 protein phosphatase type 1 complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AK292833 - Homo sapiens cDNA FLJ76498 complete cds, highly similar to Homo sapiens soc-2 suppressor of clear homolog (C. elegans) (SHOC2), mRNA.
AK293271 - Homo sapiens cDNA FLJ60412 complete cds, highly similar to Leucine-rich repeat protein SHOC-2.
BC044752 - Homo sapiens soc-2 suppressor of clear homolog (C. elegans), mRNA (cDNA clone IMAGE:4826955).
AB020669 - Homo sapiens KIAA0862 mRNA for KIAA0862 protein.
BX649055 - Homo sapiens mRNA; cDNA DKFZp779A2425 (from clone DKFZp779A2425).
AF054828 - Homo sapiens leucine-rich repeat protein SHOC-2 (SHOC-2) mRNA, complete cds.
BC050445 - Homo sapiens soc-2 suppressor of clear homolog (C. elegans), mRNA (cDNA clone MGC:54207 IMAGE:6067669), complete cds.
JD089911 - Sequence 70935 from Patent EP1572962.
KJ892462 - Synthetic construct Homo sapiens clone ccsbBroadEn_01856 SHOC2 gene, encodes complete protein.
AB384022 - Synthetic construct DNA, clone: pF1KSDA0862, Homo sapiens SHOC2 gene for leucine-rich repeat protein SHOC-2, complete cds, without stop codon, in Flexi system.
CU690686 - Synthetic construct Homo sapiens gateway clone IMAGE:100021483 5' read SHOC2 mRNA.
AF068920 - Homo sapiens Ras-binding protein SUR-8 mRNA, complete cds.
AK090820 - Homo sapiens cDNA FLJ33501 fis, clone BRAMY2004363, highly similar to Leucine-rich repeat protein SHOC-2.
AX746632 - Sequence 157 from Patent EP1308459.
JD251980 - Sequence 233004 from Patent EP1572962.
JD553355 - Sequence 534379 from Patent EP1572962.
JD322386 - Sequence 303410 from Patent EP1572962.
JD081960 - Sequence 62984 from Patent EP1572962.
JD236132 - Sequence 217156 from Patent EP1572962.
JD050219 - Sequence 31243 from Patent EP1572962.
JD502485 - Sequence 483509 from Patent EP1572962.
JD552814 - Sequence 533838 from Patent EP1572962.
JD236975 - Sequence 217999 from Patent EP1572962.
JD299986 - Sequence 281010 from Patent EP1572962.
JD148148 - Sequence 129172 from Patent EP1572962.
JD110335 - Sequence 91359 from Patent EP1572962.
JD178559 - Sequence 159583 from Patent EP1572962.
JD233830 - Sequence 214854 from Patent EP1572962.
JD564170 - Sequence 545194 from Patent EP1572962.
JD306110 - Sequence 287134 from Patent EP1572962.
JD124165 - Sequence 105189 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K9W8, B3KR23, ENST00000369452.1, ENST00000369452.2, ENST00000369452.3, ENST00000369452.4, ENST00000369452.5, ENST00000369452.6, ENST00000369452.7, ENST00000369452.8, KIAA0862, NR_136749, O76063, Q5VZS8, Q5VZS9, Q9UQ13, SHOC2_HUMAN, uc001kzl.1, uc001kzl.2, uc001kzl.3, uc001kzl.4, uc001kzl.5, uc001kzl.6
UCSC ID: ENST00000369452.9
RefSeq Accession: NM_007373
Protein: Q9UQ13 (aka SHOC2_HUMAN or SHO2_HUMAN)
CCDS: CCDS7568.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.