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SOS1 Gene

protein-coding   GIFtS: 67
GCID: GC02M039208

Son Of Sevenless Homolog 1 (Drosophila)

(Previous names: gingival fibromatosis, hereditary, 1)
(Previous symbol: GINGF)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Son Of Sevenless Homolog 1 (Drosophila)1 2     HGF2 5
GINGF1 2 5     NS42 5
Gingival Fibromatosis, Hereditary, 11 2     GGF12
SOS-12 3     Guanine Nucleotide Exchange Factor2
GF12 5     Son Of Sevenless Homolog 12

External Ids:    HGNC: 111871   Entrez Gene: 66542   Ensembl: ENSG000001159047   OMIM: 1825305   UniProtKB: Q078893   

Export aliases for SOS1 gene to outside databases

Previous GC identifers: GC02M039177 GC02M039359 GC02M039187 GC02M039124 GC02M039066 GC02M038947


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SOS1 Gene:
This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that
bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP
hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the
exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome
type 4. (provided by RefSeq, Jul 2008)

GeneCards Summary for SOS1 Gene:
SOS1 (son of sevenless homolog 1 (Drosophila)) is a protein-coding gene. Diseases associated with SOS1 include gingivitis, and noonan syndrome. GO annotations related to this gene include protein heterodimerization activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is RALGPS2.

UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889
Function: Promotes the exchange of Ras-bound GDP by GTP. Catalytic component of a trimeric complex that
participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange
factor (GEF) activity (By similarity)

summary for SOS1 Gene:
MET (Mesenchymal epithelial transition factor), also known as hepatocyte growth factor receptor (HGFR) is a
proto-oncogenic receptor tyrosine kinase. The endogenous ligand for MET is hepatocyte growth factor/scatter
factor (HGF), a disulfide-linked heterodimeric molecule produced predominantly by mesenchymal cells. In the
adult, MET expression is limited to stem and progenitor cells and is necessary for wound healing and
hepatocyte regeneration. In the embryo, MET receptors are expressed on cells of epithelial origin. They are
essential for invasive growth and mediate epithelial-mesenchymal transition (EMT). Abberant activation of
the HGF/MET pathway leads to a variety of cancers. MET mutation is associated with a poor prognosis as it
can trigger tumor growth, angiogenesis and metastasis.

Gene Wiki entry for SOS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the SOS1 gene promoter:
         USF1   GATA-3   Tal-1beta   NF-kappaB   GATA-1   GATA-2   USF-1   NF-kappaB1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SOS1 promoter sequence
   Search Chromatin IP Primers for SOS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SOS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p22.1   HGNC cytogenetic band: 2p21

SOS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOS1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M039208:  view genomic region     (about GC identifiers)

Start:
39,208,537 bp from pter      End:
39,351,486 bp from pter
Size:
142,950 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889 (See protein sequence)
Recommended Name: Son of sevenless homolog 1  
Size: 1333 amino acids; 152464 Da
Subunit: Part of a complex consisting of ABI1, EPS8 and SOS1 (By similarity). Interacts with GRB2. Forms a complex
with phosphorylated MUC1 and GRB2 (via its SH3 domains). Interacts with phosphorylated LAT2. Interacts with NCK1
and NCK2
Selected PDB 3D structures from and Proteopedia for SOS1 (see all 13):
1AWE (3D)        1BKD (3D)        1DBH (3D)        1NVU (3D)        1NVV (3D)        1NVW (3D)    
Secondary accessions: A8K2G3

Explore the universe of human proteins at neXtProt for SOS1: NX_Q07889

Explore proteomics data for SOS1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SOS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005624.2  
    ENSEMBL proteins: 
     ENSP00000387784   ENSP00000378479   ENSP00000393899   ENSP00000384675   ENSP00000399992  
    Reactome Protein details: Q07889

    SOS1 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SOS1
    GenScript Custom Purified and Recombinant Proteins Services for SOS1
    Novus Biologicals SOS1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SOS1

    SOS1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SOS1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for SOS1 
    OriGene Antibodies for SOS1
    OriGene Custom Antibody Services for SOS1
    Novus Biologicals SOS1 Antibodies
    Abcam antibodies for SOS1
    Cloud-Clone Corp. Antibodies for SOS1
    ThermoFisher Antibodies for SOS1
    LSBio Antibodies in human, mouse, rat for SOS1

    SOS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SOS1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SOS1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SOS1
    Cloud-Clone Corp. CLIAs for SOS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing
    ARHGEF: Rho guanine nucleotide exchange factors

    Selected InterPro protein domains (see all 10):
     IPR008937 Ras_GEF
     IPR000219 DH-domain
     IPR007125 Histone_core_D
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q07889

    ProtoNet protein and cluster: Q07889

    3 Blocks protein domains:
    IPB000219 DH domain
    IPB001849 Pleckstrin-like
    IPB001895 Guanine-nucleotide dissociation stimulator CDC25


    UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 N-terminal Ras-GEF domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Ras-GEF domain


    SOS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SOS1_HUMAN, Q07889
    Function: Promotes the exchange of Ras-bound GDP by GTP. Catalytic component of a trimeric complex that
    participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange
    factor (GEF) activity (By similarity)

         Genatlas biochemistry entry for SOS1:
    Drosophila son of sevenless homolog 1, regulator of Ras

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005085guanyl-nucleotide exchange factor activity ----
    GO:0005088Ras guanyl-nucleotide exchange factor activity TAS--
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005100Rho GTPase activator activity TAS9790532
         
    SOS1 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Sos1) (see all 16):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     mortality/aging  muscle  nervous system  no phenotypic analysis  skeleton 

    SOS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sos1tm1Lowy for SOS1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SOS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SOS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SOS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SOS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SOS1:
    hsa-mir-23b-3p (MIRT046240)

    Block miRNA regulation of human, mouse, rat SOS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SOS1 (see all 133):
    hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-4275 hsa-miR-200b hsa-miR-520b hsa-miR-374b*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SOS1
    Predesigned siRNA for gene silencing in human, mouse, rat SOS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SOS1

    Clone
    Products:
         
    OriGene clones in human, mouse for SOS1 (see all 6)
    OriGene ORF clones in mouse, rat for SOS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOS1 (NM_005633)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOS1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SOS1
    Browse ESI BIO Cell Lines and PureStem Progenitors for SOS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane4
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0014069postsynaptic density IEA--
    GO:0043025neuronal cell body IEA--

    SOS1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SOS1 About   (see all 142)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Immune response Fc epsilon RI pathway
    Immune response Fc epsilon RI pathway0.43
    VEGF - VEGF R2 Signaling Pathways0.35
    Immune response BCR pathway0.43
    Fc-epsilon receptor I signaling in mast cells0.34
    Fc epsilon RI signaling pathway0.41
    2IL-9 Signaling Pathways
    IL-9 Signaling Pathways0.90
    IL-4 Signaling Pathways0.84
    IL-7 Signaling Pathways0.90
    Immune response IL 9 signaling pathway0.42
    IL-21 Signaling Pathways0.90
    IL-7 Signaling Pathway0.40
    Common Cytokine Receptor Gamma-Chain Family Signaling Pathways0.90
    Development Thrombopoietin regulated cell processes0.38
    3Translation Insulin regulation of translation
    Translation Insulin regulation of translation0.59
    Cell adhesion PLAU signaling0.35
    Regulation of lipid metabolism Insulin signaling generic cascades0.59
    Transcription PPAR Pathway0.34
    Transcription Receptor mediated HIF regulation0.51
    Development Growth hormone signaling via PI3K AKT and MAPK cascades0.34
    Translation Regulation activity of EIF20.47
    Insulin signaling pathway0.32
    4Development HGF signaling pathway
    Development HGF signaling pathway0.45
    Apoptosis and survival Role of CDK5 in neuronal death and survival0.37
    Development Neurotrophin family signaling0.45
    Apoptosis and survival NGF signaling pathway0.36
    Development EGFR signaling via small GTPases0.44
    Neurotrophin signaling pathway0.36
    Development PDGF signaling via MAPK cascades0.41
    Signaling of Hepatocyte Growth Factor Receptor0.35
    5B cell receptor signaling pathway (KEGG)
    B cell receptor signaling pathway0.42
    T cell receptor signaling pathway0.38
    BCR signaling pathway0.42
    TCR Signaling Pathway0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected R&D Systems Pathways for SOS1 (see all 10)
        IL-21 Signaling Pathways
    IL-2 Signaling Pathways
    IL-4 Signaling Pathways
    Adipocytokines & Insulin Signaling
    IL-7 Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SOS1 (see all 74)
        Molecular Mechanisms of Cancer
    eIF2 Pathway
    JNK Pathway
    ITK and TCR Signaling
    ErbB Family Pathway

    1 Cell Signaling Technology (CST) Pathway for SOS1
        MAP Kinase Signaling

    Selected GeneGo (Thomson Reuters) Pathways for SOS1 (see all 78)
        G-protein signaling H-RAS regulation pathway
    Development CNTF receptor signaling
    Development EGFR signaling pathway
    Immune response IL-9 signaling pathway
    Transcription PPAR Pathway

    Selected BioSystems Pathways for SOS1 (see all 55)
        Focal Adhesion
    Integrin-mediated cell adhesion
    EGFR1 Signaling Pathway
    Insulin Signaling
    DNA damage response (only ATM dependent)

    Selected Reactome Pathways for SOS1 (see all 30)
        FCERI mediated MAPK activation
    G alpha (12/13) signalling events
    FRS2-mediated cascade
    EGFR Transactivation by Gastrin
    Activation of Rac

    1 PharmGKB Pathway for SOS1
        EGFR Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for SOS1) (see all 32):
        MAPK signaling pathway
    ErbB signaling pathway
    Ras signaling pathway
    Chemokine signaling pathway
    FoxO signaling pathway


    SOS1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SOS1: 
              Insulin Signaling Pathway in human mouse rat
              PI3K-AKT Signaling Pathway in human mouse rat
              Focal Adhesions in human mouse rat
              Gap Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SOS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SOS1 (Q078891, 2, 3 ENSP000003846754) via UniProtKB, MINT, STRING, and/or I2D (see all 380)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629931, 2, 3, ENSP000003390074EBI-297487,EBI-401755 MINT-7217714 MINT-1782504 MINT-7217692 MINT-7217731 MINT-7217748 MINT-6170081 MINT-7135453 MINT-7135473 MINT-7217665 MINT-6173175 MINT-61539 MINT-6170118 MINT-6170102 MINT-65980 MINT-1782591 I2D: score=15 STRING: ENSP00000339007
    HIST1H3AP684313I2D: score=1 
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction NAS8493579
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007265Ras protein signal transduction TAS--
    GO:0007411axon guidance TAS--

    SOS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for SOS1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CrizotinibPotent c-MET/ALK inhibitor[877399-52-5]
    PF 04217903 mesylateHighly selective c-Met inhibitor[956906-93-7]
    PHA 665752Potent and selective MET inhibitor[477575-56-7]
    SU 11274Selective inhibitor of MET kinase activity[658084-23-2]

    1 HMDB Compound for SOS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    6 Novoseek inferred chemical compound relationships for SOS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 64.1 18 15039778 (3), 7525306 (1), 10026169 (1), 7566970 (1) (see all 12)
    menadione 35.1 1 12678906 (1)
    phosphatidylinositol 34.1 2 9837978 (1), 7896837 (1)
    gtp 17.5 1 7829473 (1)
    serine 4.62 1 19206169 (1)
    lipid 0 1 12734206 (1)



    SOS1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SOS1 gene: 
    NM_005633.3  

    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426016(uc002rrj.4 uc002rrk.4) ENST00000395038(uc002rrl.3 uc010ynr.1)
    ENST00000469581 ENST00000474390 ENST00000472480 ENST00000461545 ENST00000451331
    ENST00000402219 ENST00000428721
    miRNA
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    Block miRNA regulation of human, mouse, rat SOS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SOS1 (see all 133):
    hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-4275 hsa-miR-200b hsa-miR-520b hsa-miR-374b*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SOS1
    Clone
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    OriGene clones in human, mouse for SOS1 (see all 6)
    OriGene ORF clones in mouse, rat for SOS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOS1 (NM_005633)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOS1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SOS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SOS1
      QuantiTect SYBR Green Assays in human, mouse, rat SOS1
      QuantiFast Probe-based Assays in human, mouse, rat SOS1

    Selected AceView cDNA sequences (see all 136):

    NM_005633 AA713949 CA390299 BM727902 BX497564 AA813540 BE271423 AI635551 
    BF002792 AA574131 L13857 AI129957 BU728840 AA809729 F05114 AA814581 
    BF057256 BF222581 AW340599 BG535767 AI274985 BF448469 AU129044 AI080541 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SOS1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b · 20c ^
    SP1:                                -                                         -                                                                 -               
    SP2:                                                                          -                                                                 -               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 21 ^ 22 ^ 23a · 23b
    SP1:                        
    SP2:  -                     
    SP3:                        
    SP4:                        


    ECgene alternative splicing isoforms for SOS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SOS1 expression in normal human tissues (normalized intensities)      SOS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCATAGGTA
    SOS1 Expression
    About this image


    SOS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
    SOS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SOS1 Protein Expression

    UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889
    Tissue specificity: Expressed in gingival tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SOS1: 
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              Focal Adhesions in human mouse rat
              Gap Junctions in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SOS1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sos11 , 5 son of sevenless homolog 1 (Drosophila)1, 5 91.1(n)1
    97.88(a)1
      17 (50.67 cM)5
    206621  NM_009231.21  NP_033257.21 
     803937525 
    chicken
    (Gallus gallus)
    Aves SOS11 son of sevenless homolog 1 (Drosophila) 83.33(n)
    92.58(a)
      431192  XM_003640931.2  XP_003640979.2 
    lizard
    (Anolis carolinensis)
    Reptilia SOS16
    son of sevenless homolog 1 (Drosophila)
    89(a)
    1 ↔ 1
    1(253874067-253922378)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ083866.12   -- 79.91(n)    BJ083866.1 
    zebrafish
    (Danio rerio)
    Actinopterygii SOS1 (2 of 2)6
    sos16
    son of sevenless homolog 1 (Drosophila)
    87(a)
    83(a)
    1 ↔ many
    1 ↔ many
    11(46278941-46283827) ENSDARG00000089443
    11(45929958-46264009) ENSDARG00000042468
    fruit fly
    (Drosophila melanogaster)
    Insecta Sos1 , 3 RAS protein signal transduction RAS
    guanyl-nucleotide more3
    Son of sevenless1
    50(a)3
    52.73(n)1
    50.78(a)1
      347901  NM_057249.51  NP_476597.21 
    worm
    (Caenorhabditis elegans)
    Secernentea sos-11 , 3 sos-11 31(a)3
    48.28(n)1
    38.72(a)1
      V(4518409-4549084)3
    1788461  NM_071834.41  NP_504235.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC256
    Membrane bound guanine nucleotide exchange factor ...
    16(a)
    1 → many
    XII(752224-756993) YLR310C


    ENSEMBL Gene Tree for SOS1 (if available)
    TreeFam Gene Tree for SOS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SOS1 gene
    RALGPS22  RAPGEF12  RASGRF12  RGL22  SOS22  RASGRF22  RGL32  RALGDS2  
    RALGPS12  RGL12  RGL42  
    2 SIMAP similar genes for SOS1 using alignment to 7 protein entries:     SOS1_HUMAN (see all proteins):
    SOS2    DKFZp781H1715

    SOS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SOS1 (see all 3019)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1420942341,2,,4
    CNoonan syndrome 4 (NS4)4 --39016688(+) CATGTA/GTATCT 2 T I mis10--------
    VAR_0304284
    Noonan syndrome 4 (NS4)4--see VAR_0304282 W R mis40--------
    VAR_0660474
    Noonan syndrome 4 (NS4)4--see VAR_0660472 T K mis40--------
    VAR_0660444
    Noonan syndrome 4 (NS4)4--see VAR_0660442 P R mis40--------
    VAR_0304324
    Noonan syndrome 4 (NS4)4--see VAR_0304322 S R mis40--------
    VAR_0304404
    Noonan syndrome 4 (NS4)4--see VAR_0304402 I F mis40--------
    VAR_0660424
    Noonan syndrome 4 (NS4)4--see VAR_0660422 I T mis40--------
    VAR_0660484
    Noonan syndrome 4 (NS4)4--see VAR_0660482 R M mis40--------
    VAR_0304384
    Noonan syndrome 4 (NS4)4--see VAR_0304382 Y H mis40--------
    VAR_0660454
    Noonan syndrome 4 (NS4)4--see VAR_0660452 G R mis40--------

    HapMap Linkage Disequilibrium report for SOS1 (39208537 - 39351486 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SOS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1618069CNV Insertion17803354
    esv1269226CNV Insertion17803354
    esv273433CNV Insertion20981092
    esv2552919CNV Insertion19546169
    esv271949CNV Insertion20981092
    nsv873885CNV Loss21882294
    nsv873884CNV Loss21882294

    Human Gene Mutation Database (HGMD): SOS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SOS1
    DNA2.0 Custom Variant and Variant Library Synthesis for SOS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 182530   
    OMIM disorders: 135300  610733  
    UniProtKB/Swiss-Prot: SOS1_HUMAN, Q07889
  • Gingival fibromatosis 1 (GGF1) [MIM:135300]: Gingival fibromatosis is a rare overgrowth condition
    characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular
    keratinized gingiva. GGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are
    common. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Noonan syndrome 4 (NS4) [MIM:610733]: A form of Noonan syndrome, a disease characterized by short
    stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated
    ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can
    include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits,
    multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk
    of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of
    myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for SOS1 (see all 54):    About MalaCards
    gingivitis    noonan syndrome    fibromatosis    noonan syndrome 4
    sos1-related noonan syndrome    gingival fibromatosis, 1    fibromatosis, gingival    noonan-like/multiple giant cell lesion syndrome
    pulmonary valve disease    cardiofaciocutaneous syndrome    pulmonary valve stenosis    noonan syndrome 1
    leopard syndrome    costello syndrome    ascariasis    trichuriasis
    hepatic encephalopathy    pilocytic astrocytoma    gingival overgrowth    embryonal rhabdomyosarcoma

    6 diseases from the University of Copenhagen DISEASES database for SOS1:
    Noonan syndrome     Hepatitis C     Hepatitis     Pulmonary valve stenosis
    LEOPARD syndrome     Costello syndrome

    SOS1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for SOS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    noonan syndrome 93.3 21 17143285 (4), 18394382 (3), 17143282 (3), 19953625 (2) (see all 12)
    fibromatosis, gingival, hereditary 84 7 16098013 (3), 17510059 (2), 10507724 (1), 17062749 (1)
    cfc syndrome 77.8 1 18651097 (3), 20052757 (1)
    short stature 77.2 3 19407499 (1), 20461756 (1), 18456719 (1)
    heart defects congenital 60.9 2 20461756 (1), 18456719 (1)
    tumors 0 8 19953625 (3), 19724911 (1), 20461756 (1)
    cancer 0 5 18064648 (3), 18778683 (1), 20461756 (1)

    GeneTests: SOS1
    GeneReviews: SOS1
    Genetic Association Database (GAD): SOS1
    Human Genome Epidemiology (HuGE) Navigator: SOS1 (18 documents)

    Export disorders for SOS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SOS1 gene, integrated from 10 sources (see all 245):
    (articles sorted by number of sources associating them with SOS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. (PubMed id 19020799)1, 2, 4 Ko J.M.... Yoo H.W. (J. Hum. Genet. 2008)
    2. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. (PubMed id 19953625)1, 2, 9 Denayer E....Legius E. (Genes Chromosomes Cancer 2010)
    3. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. (PubMed id 17143282)1, 2, 9 Tartaglia M.... Gelb B.D. (Nat. Genet. 2007)
    4. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. (PubMed id 17143285)1, 2, 9 Roberts A.E....Kucherlapati R.S. (Nat. Genet. 2007)
    5. Mammalian homologues of the Drosophila Son of sevenless gene map to murine chromosomes 17 and 12 and to human chromosomes 2 and 14, respectively. (PubMed id 8276400)1, 3, 9 Webb G.C....Bowtell D.D. (Genomics 1993)
    6. Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2. (PubMed id 8493579)1, 2, 9 Chardin P....Bar-Sagi D. (Science 1993)
    7. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. (PubMed id 20186801)1, 4, 9 Pierpont E.I....Seidenberg M.S. (Am. J. Med. Genet. A 2010)
    8. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (PubMed id 19206169)1, 4, 9 Sarkozy A.... Tartaglia M. (Hum. Mutat. 2009)
    9. Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. (PubMed id 19133693)1, 4, 9 Cesarini L....Zampino G. (Am. J. Med. Genet. A 2009)
    10. Identification of Grb4/Nckbeta, a src homology 2 and 3 domain- containing adapter protein having similar binding and biological properties to Nck. (PubMed id 10026169)1, 2, 9 Braverman L.E. and Quilliam L.A. (J. Biol. Chem. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6654 HGNC: 11187 AceView: SOS1 Ensembl:ENSG00000115904 euGenes: HUgn6654
    ECgene: SOS1 Kegg: 6654 H-InvDB: SOS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SOS1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SOS1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SOS1[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Son_of_Sevenless

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SOS1 gene:
    Search GeneIP for patents involving SOS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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