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

    Gene ID: 6655, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:11188
    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
    mouse all
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    Genomic context

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    See SOS2 in Genome Data Viewer
    Location:
    14q21.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50117130..50231882, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (44323369..44437823, complement)
    RS_2024_09 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 NANOG-H3K27ac hESC enhancer GRCh37_chr14:50541160-50541705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8349 Neighboring gene RN7SK pseudogene 193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50550650-50551156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8353 Neighboring gene valosin containing protein lysine methyltransferase Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:50605652-50606356 Neighboring gene NANOG hESC enhancer GRCh37_chr14:50692526-50693052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8354 Neighboring gene MPRA-validated peak2154 silencer Neighboring gene L-2-hydroxyglutarate dehydrogenase Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:50766206-50766899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8355 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling. Gentile M, et al. Am J Med Genet A, 2021 Jun. PMID 33750022
    2. Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. Lissewski C, et al. Eur J Hum Genet, 2021 Jan. PMID 32788663, Free PMC Article
    3. Fibroblast growth factor receptor (FGFR) and candidate signaling molecule distribution within rat and human retina. Kinkl N, et al. Mol Vis, 2002 Jun 14. PMID 12097864
    4. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Cordeddu V, et al. Hum Mutat, 2015 Nov. PMID 26173643, Free PMC Article
    5. Ras-guanine nucleotide exchange factor sos2 is dispensable for mouse growth and development. Esteban LM, et al. Mol Cell Biol, 2000 Sep. PMID 10938118, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic variants of SOS2, MAP2K1 and RASGRF2 in the RAS pathway genes predict survival of HBV-related hepatocellular carcinoma patients.
      Title: Genetic variants of SOS2, MAP2K1 and RASGRF2 in the RAS pathway genes predict survival of HBV-related hepatocellular carcinoma patients.
    2. First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.
      Title: First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.
    3. Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
      Title: Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
    4. miR-148a-3p inhibits NSCLC cells proliferation and epithelial-mesenchymal transition by reducing the expression of SOS2
      Title: microRNA-148a-3p inhibited the proliferation and epithelial-mesenchymal transition progression of non-small-cell lung cancer via modulating Ras/MAPK/Erk signaling.
    5. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
      Title: Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
    6. We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies.
      Title: Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
    7. multicenter pharmacogenetic study in children (ages 6-11): Data suggest that SNP in SOS2 (rs13379306) in children with growth hormone deficiency is associated with drug resistance to hormone replacement therapy with recombinant human growth hormone.
      Title: A pharmacogenomic approach to the treatment of children with GH deficiency or Turner syndrome.
    8. intracellular Francisella tularensis novicida triggers temporal and early activation of Ras through the SOS2/GrB2/PKCalpha/PKCbetaI quaternary complex; Ras signalling by intracellular F. tularensis is essential for intracellular proliferation in the cytosol
      Title: Triggering Ras signalling by intracellular Francisella tularensis through recruitment of PKCα and βI to the SOS2/GrB2 complex is essential for bacterial proliferation in the cytosol.
    9. Loss of MADD expression resulted in reduced Grb2 and Sos1/2 recruitment to the TNFR1 complex and decreased Ras and MEKK1/2 activation
      Title: MADD, a splice variant of IG20, is indispensable for MAPK activation and protection against apoptosis upon tumor necrosis factor-alpha treatment.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Mutation of ARHGAP9 in patients with coronary spastic angina.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Noonan syndrome 9
    MedGen: C4225282 OMIM: 616559 GeneReviews: Noonan Syndrome
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25596

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    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 Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in insulin receptor signaling pathway 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 pro-B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    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_001411020.1 → NP_001397949.1  son of sevenless homolog 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL109758
      Consensus CDS
      CCDS91874.1
      UniProtKB/TrEMBL
      B7ZKT5
      Related
      ENSP00000445328.1, ENST00000543680.5

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

      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
      B7ZKT6, D3DSB4, Q07890, Q15503, Q17RN1
      UniProtKB/TrEMBL
      B7ZKT5
      Related
      ENSP00000216373.5, ENST00000216373.10
      Conserved Domains (6) summary
      smart00229
      Location:595 → 739
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      cd00155
      Location:774 → 1013
      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:199 → 386
      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:437 → 543
      PH_SOS; Son of Sevenless (SOS) Pleckstrin homology (PH) domain
      pfam16768
      Location:1023 → 1142
      NupH_GANP; Nucleoporin homology of Germinal-centre associated nuclear protein
      cl23830
      Location:63 → 169
      Histone; Core histone H2A/H2B/H3/H4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      50117130..50231882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431723.1 → XP_047287679.1  son of sevenless homolog 2 isoform X8

      UniProtKB/TrEMBL
      B7ZKT5

    2. XM_047431716.1 → XP_047287672.1  son of sevenless homolog 2 isoform X4

      UniProtKB/TrEMBL
      B7ZKT5

    3. XM_047431719.1 → XP_047287675.1  son of sevenless homolog 2 isoform X7

      UniProtKB/TrEMBL
      B7ZKT5

    4. XM_047431718.1 → XP_047287674.1  son of sevenless homolog 2 isoform X6

      UniProtKB/TrEMBL
      B7ZKT5

    5. XM_047431717.1 → XP_047287673.1  son of sevenless homolog 2 isoform X5

      UniProtKB/TrEMBL
      B7ZKT5

    6. XM_047431714.1 → XP_047287670.1  son of sevenless homolog 2 isoform X2

      UniProtKB/TrEMBL
      B7ZKT5

    7. XM_047431715.1 → XP_047287671.1  son of sevenless homolog 2 isoform X3

      UniProtKB/TrEMBL
      B7ZKT5

    8. XM_047431713.1 → XP_047287669.1  son of sevenless homolog 2 isoform X1

      UniProtKB/TrEMBL
      B7ZKT5

    9. XM_047431722.1 → XP_047287678.1  son of sevenless homolog 2 isoform X8

      UniProtKB/TrEMBL
      B7ZKT5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      44323369..44437823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376636.1 → XP_054232611.1  son of sevenless homolog 2 isoform X4

      UniProtKB/TrEMBL
      B7ZKT5

    2. XM_054376639.1 → XP_054232614.1  son of sevenless homolog 2 isoform X7

      UniProtKB/TrEMBL
      B7ZKT5

    3. XM_054376638.1 → XP_054232613.1  son of sevenless homolog 2 isoform X6

      UniProtKB/TrEMBL
      B7ZKT5

    4. XM_054376637.1 → XP_054232612.1  son of sevenless homolog 2 isoform X5

      UniProtKB/TrEMBL
      B7ZKT5

    5. XM_054376634.1 → XP_054232609.1  son of sevenless homolog 2 isoform X2

      UniProtKB/TrEMBL
      B7ZKT5

    6. XM_054376635.1 → XP_054232610.1  son of sevenless homolog 2 isoform X3

      UniProtKB/TrEMBL
      B7ZKT5

    7. XM_054376633.1 → XP_054232608.1  son of sevenless homolog 2 isoform X1

      UniProtKB/TrEMBL
      B7ZKT5

    8. XM_054376640.1 → XP_054232615.1  son of sevenless homolog 2 isoform X8

      UniProtKB/TrEMBL
      B7ZKT5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q07890.2 GenPept UniProtKB/Swiss-Prot:Q07890

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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