Format

Send to:

Choose Destination

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

Gene ID: 8036, updated on 23-Jul-2019

Summary

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
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; 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

Genomic context

See SHOC2 in Genome Data Viewer
Location:
10q25.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (110919370..111013667)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (112679301..112773425)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene programmed cell death 4 Neighboring gene microRNA 4680 Neighboring gene BBSome interacting protein 1 Neighboring gene ribosomal protein L13a pseudogene 6 Neighboring gene microRNA 548e Neighboring gene adrenoceptor alpha 2A Neighboring gene chromosome 19 open reading frame 53 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

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

Pathways from BioSystems

  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ60412, KIAA0862

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase 1 binding IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphatase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphatase regulator activity TAS
Traceable Author Statement
more info
PubMed 
protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Ras protein signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
fibroblast growth factor receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of Ras protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor inner segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor outer segment membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphatase type 1 complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001269039.2NP_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, ENST00000265277.9
    Conserved Domains (2) summary
    sd00033
    Location:194216
    LRR_RI; leucine-rich repeat [structural motif]
    cl26793
    Location:115489
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  2. NM_001324336.1NP_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
    Q9UQ13
    Conserved Domains (2) summary
    sd00033
    Location:240262
    LRR_RI; leucine-rich repeat [structural motif]
    cl26793
    Location:115483
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  3. NM_001324337.1NP_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
    Q9UQ13
    Conserved Domains (2) summary
    sd00033
    Location:240262
    LRR_RI; leucine-rich repeat [structural motif]
    cl26793
    Location:115483
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  4. NM_007373.3NP_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
    Q9UQ13
    Related
    ENSP00000358464.4, ENST00000369452.8
    Conserved Domains (2) summary
    sd00033
    Location:240262
    LRR_RI; leucine-rich repeat [structural motif]
    cl26793
    Location:115483
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

RNA

  1. NR_136749.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL158163
    Related
    ENST00000451838.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    110919370..111013667
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center