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

Gene ID: 8036, updated on 16-Aug-2021

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; 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
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Genomic context

See SHOC2 in Genome Data Viewer
Location:
10q25.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (110919370..111013665)
105.20201022 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 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

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
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein phosphatase 1 binding IBA
Inferred from Biological aspect of Ancestor
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 
Component Evidence Code Pubs
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

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_001269039.3NP_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
    PLN00113
    Location:115489
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    sd00033
    Location:194216
    LRR_RI; leucine-rich repeat [structural motif]
  2. NM_001324336.2NP_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 (3) summary
    PLN03150
    Location:453527
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:115483
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    sd00033
    Location:240262
    LRR_RI; leucine-rich repeat [structural motif]
  3. NM_001324337.2NP_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 (3) summary
    PLN03150
    Location:453527
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:115483
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    sd00033
    Location:240262
    LRR_RI; leucine-rich repeat [structural motif]
  4. NM_007373.4NP_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
    ENSP00000358464.5, ENST00000369452.9
    Conserved Domains (3) summary
    PLN03150
    Location:453527
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:115483
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    sd00033
    Location:240262
    LRR_RI; leucine-rich repeat [structural motif]

RNA

  1. NR_136749.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL158163
    Related
    ENST00000451838.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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..111013665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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