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    SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 [ Homo sapiens (human) ]

    Gene ID: 6655, updated on 8-Jul-2021

    Summary

    Official Symbol
    SOS2provided by HGNC
    Official Full Name
    SOS Ras/Rho guanine nucleotide exchange factor 2provided by HGNC
    Primary source
    HGNC:HGNC:11188
    See related
    Ensembl:ENSG00000100485 MIM:601247
    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
    NS9; SOS-2
    Summary
    This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in testis (RPKM 19.8), thyroid (RPKM 17.5) and 25 other tissues See more
    Orthologs
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    Genomic context

    See SOS2 in Genome Data Viewer
    Location:
    14q21.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (50117130..50231578, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50583848..50698296, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1599 Neighboring gene RN7SK pseudogene 193 Neighboring gene valosin containing protein lysine methyltransferase Neighboring gene L-2-hydroxyglutarate dehydrogenase Neighboring gene microRNA 4504 Neighboring gene distal membrane arm assembly component 2 like Neighboring gene cyclin dependent kinase like 1

    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
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    GeneReviews: Not available
    Noonan syndrome 9
    MedGen: C4225282 OMIM: 616559 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ25596

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in B cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of pro-B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    son of sevenless homolog 2
    Names
    guanine nucleotide releasing factor

    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_051073.1 RefSeqGene

      Range
      5116..119564
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006939.4NP_008870.2  son of sevenless homolog 2

      See identical proteins and their annotated locations for NP_008870.2

      Status: REVIEWED

      Source sequence(s)
      AI419975, AL109758, BC117261, R20624
      Consensus CDS
      CCDS9697.1
      UniProtKB/Swiss-Prot
      Q07890
      Related
      ENSP00000216373.5, ENST00000216373.10
      Conserved Domains (6) summary
      smart00229
      Location:595739
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      cd00155
      Location:7741013
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
      cd00160
      Location:199386
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd01261
      Location:437543
      PH_SOS; Son of Sevenless (SOS) Pleckstrin homology (PH) domain
      pfam16768
      Location:10231142
      NupH_GANP; Nucleoporin homology of Germinal-centre associated nuclear protein
      cl23830
      Location:63169
      Histone; Core histone H2A/H2B/H3/H4

    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_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      50117130..50231578 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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