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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FRS2 Gene

protein-coding   GIFtS: 62
GCID: GC12P069864

Fibroblast Growth Factor Receptor Substrate 2

  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)
About This Section

Aliases
Fibroblast Growth Factor Receptor Substrate 21 2     FRS2A2
Suc1-Associated Neurotrophic Factor Target 12 3     FRS2alpha2
SNT-12 3     SNT2
FGFR Substrate 22 3     SNT12
FGFR-Signaling Adaptor SNT2 3     FGFR Signalling Adaptor2

External Ids:    HGNC: 169711   Entrez Gene: 108182   Ensembl: ENSG000001662257   OMIM: 6077435   UniProtKB: Q8WU203   

Export aliases for FRS2 gene to outside databases

Previous GC identifers: GC12P069580 GC12P068150 GC12P066913


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for FRS2 Gene: 
FRS2 (fibroblast growth factor receptor substrate 2) is a protein-coding gene. Diseases associated with FRS2 include opioid abuse, and contagious pustular dermatitis, and among its related super-pathways are Signaling by FGFR and Constitutive PI3K/AKT Signaling in Cancer. GO annotations related to this gene include transmembrane receptor protein tyrosine kinase adaptor activity and insulin receptor binding. An important paralog of this gene is FRS3.

UniProtKB/Swiss-Prot: FRS2_HUMAN, Q8WU20
Function: Adapter protein that links activated FGR and NGF receptors to downstream signaling pathways. Plays an
important role in the activation of MAP kinases and in the phosphorylation of PIK3R1, the regulatory subunit of
phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1. Modulates signaling via SHC1
by competing for a common binding site on NTRK1

Gene Wiki entry for FRS2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FRS2 gene promoter:
         HOXA9   HOXA9B   AML1a   AP-1   MyoD   Egr-4   HFH-1   Chx10   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFRS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for FRS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRS2


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

Entrez Gene cytogenetic band: 12q15   Ensembl cytogenetic band:  12q15   HGNC cytogenetic band: 12q15

FRS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRS2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P069864:  view genomic region     (about GC identifiers)

Start:
69,864,129 bp from pter      End:
69,973,562 bp from pter
Size:
109,434 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FRS2_HUMAN, Q8WU20 (See protein sequence)
Recommended Name: Fibroblast growth factor receptor substrate 2  
Size: 508 amino acids; 57029 Da
Subunit: Part of a complex containing FRS2, GRB2, GAB1, PIK3R1 and SOS1. Part of a complex containing GRB2 and
CBL. Identified in a complex containing FGFR4, NCAM1, CDH2, PLCG1, FRS2, SRC, SHC1, GAP43 and CTTN. Binds RET (By
similarity). Binds ALK, FGFR1, CKS2, MAPK1/ERK2, MAPK3/ERK1 and SRC. The tyrosine-phosphorylated protein binds
the SH2 domains of GRB2 and PTPN11. Interacts with NTRK1, NTRK2 and NTRK3 (phosphorylated upon ligand-binding)
Subcellular location: Endomembrane system. Note=Cytoplasmic, membrane-bound
Sequence caution: Sequence=AAH21562.1; Type=Erroneous termination; Positions=509; Note=Translated as stop;
Sequence=BAG35381.1; Type=Erroneous termination; Positions=509; Note=Translated as stop;
1 PDB 3D structure from and Proteopedia for FRS2:
1XR0 (3D)    
Secondary accessions: B0LPF2 B2R684 O43558 Q7LDQ6

Explore the universe of human proteins at neXtProt for FRS2: NX_Q8WU20

Explore proteomics data for FRS2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by ULK2 in vitro (By similarity). Phosphorylated on tyrosine residues upon stimulation by NGF or
    FGF2. Phosphorylated on tyrosine residues by activated ALK and FGFR1. Phosphorylated on tyrosine residues upon
    activation of FGFR2 and FGFR3. Phosphorylated on threonine residues by MAP kinases; this inhibits tyrosine
    phosphorylation, and thereby down-regulates FRS2-mediated activation of MAP kinases
  • UniProtKB: Ubiquitinated when tyrosine phosphorylated and in a complex with GRB2. The unphosphorylated form is not subject to
    ubiquitination (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WU20

  • FRS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FRS2 Protein Expression
    REFSEQ proteins (8 alternative transcripts): 
    NP_001036020.1  NP_001265280.1  NP_001265282.1  NP_001265283.1  NP_001265284.1  NP_001265285.1  NP_001265286.1  NP_006645.3  

    ENSEMBL proteins: 
     ENSP00000447724   ENSP00000450048   ENSP00000450000   ENSP00000449105   ENSP00000447007  
     ENSP00000447241   ENSP00000447804   ENSP00000449111   ENSP00000447978   ENSP00000449432  
     ENSP00000299293   ENSP00000381083  
    Reactome Protein details: Q8WU20
    Human Recombinant Protein Products for FRS2: 
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    Novus Biologicals FRS2 Proteins
    Novus Biologicals FRS2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FRS2 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005768endosome TAS--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS9660748
    GO:0012505endomembrane system IEA--

    FRS2 for ontologies           About GeneDecksing



    FRS2 Antibody Products: 
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    ThermoFisher Antibodies for FRS2
    LSBio Antibodies in human, mouse, rat for FRS2 

    Assay Products for FRS2: 
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    Cloud-Clone Corp. ELISAs for FRS2 
    Cloud-Clone Corp. CLIAs for FRS2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR002404 Insln_rcpt_S1
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q8WU20

    ProtoNet protein and cluster: Q8WU20

    UniProtKB/Swiss-Prot: FRS2_HUMAN, Q8WU20
    Similarity: Contains 1 IRS-type PTB domain


    FRS2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FRS2_HUMAN, Q8WU20
    Function: Adapter protein that links activated FGR and NGF receptors to downstream signaling pathways. Plays an
    important role in the activation of MAP kinases and in the phosphorylation of PIK3R1, the regulatory subunit of
    phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1. Modulates signaling via SHC1
    by competing for a common binding site on NTRK1

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005068transmembrane receptor protein tyrosine kinase adaptor activity TAS9660748
    GO:0005104fibroblast growth factor receptor binding IPI9660748
    GO:0005158insulin receptor binding IEA--
    GO:0005168neurotrophin TRKA receptor binding IPI15488758
    GO:0005515protein binding IPI9660748
         
    FRS2 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Frs2):
     cardiovascular system  craniofacial  embryogenesis  growth/size  limbs/digits/tail 
     mortality/aging  nervous system  vision/eye 

    FRS2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FRS2: Frs2tm3Scl Frs2tm1.1Fwan

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FRS2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FRS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FRS2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FRS2 

    miRNA
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    hsa-miR-579 hsa-miR-1321 hsa-miR-3938 hsa-miR-631 hsa-miR-106a hsa-miR-519a hsa-miR-508-5p hsa-miR-1243
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRS2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FRS2 About   (see all 23)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by FGFR
    Downstream signaling of activated FGFR0.92
    Downstream signal transduction0.90
    Signaling by FGFR0.92
    Signaling by PDGF0.85
    Signaling by FGFR in disease0.91
    Signaling by EGFR0.84
    DAP12 signaling0.91
    Signaling by EGFR in Cancer0.83
    2PIP3 activates AKT signaling
    GAB1 signalosome0.93
    PI3K events in ERBB2 signaling0.88
    PI3K/AKT activation0.93
    PI3K events in ERBB4 signaling0.88
    PIP3 activates AKT signaling0.88
    Constitutive PI3K/AKT Signaling in Cancer0.88
    PI3K/AKT Signaling in Cancer0.88
    Signaling by SCF-KIT0.72
    3IRS-related events
    Insulin receptor signalling cascade0.94
    IGF1R signaling cascade0.92
    IRS-related events0.94
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    IRS-related events triggered by IGF1R0.93
    PI3K Cascade0.86
    IRS-mediated signalling0.92
    Signaling by Insulin receptor0.79
    4Immune System
    Immune System0.56
    Innate Immune System0.50
    Adaptive Immune System0.56
    5ARMS-mediated activation
    Prolonged ERK activation events0.90
    Frs2-mediated activation0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 EMD Millipore Pathways for FRS2
        Development GDNF family signaling
    Development FGF-family signaling
    Development FGFR signaling pathway
    Cell adhesion Plasmin signaling


    1 Cell Signaling Technology (CST) Pathway for FRS2
        Tyrosine Kinases / Adaptors

    4 GeneGo (Thomson Reuters) Pathways for FRS2
        Development GDNF family signaling
    Development FGF-family signaling
    Development FGFR signaling pathway
    Cell adhesion Plasmin signaling

    5 BioSystems Pathways for FRS2
        BDNF signaling pathway
    Signaling events regulated by Ret tyrosine kinase
    Signaling events mediated by VEGFR1 and VEGFR2
    Neurotrophic factor-mediated Trk receptor signaling
    FGF signaling pathway

    5/45        Reactome Pathways for FRS2 (see all 45)
        Signaling by EGFR in Cancer
    Downstream signal transduction
    IRS-mediated signalling
    Signal Transduction
    Signaling by PDGF


    2         Kegg Pathways  (Kegg details for FRS2):
        Neurotrophin signaling pathway
    Proteoglycans in cancer


    FRS2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FRS2

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

    5/81 Interacting proteins for FRS2 (Q8WU202, 3 ENSP000002992934) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN11Q061242, 3, ENSP000003409444MINT-8028389 MINT-8028374 I2D: score=4 STRING: ENSP00000340944
    DDR1Q083453, ENSP000004060914I2D: score=1 STRING: ENSP00000406091
    ENSG00000137332Q083453I2D: score=1 
    ENSG00000215522Q083453I2D: score=1 
    ENSG00000230456Q083453I2D: score=1 
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000186activation of MAPKK activity TAS--
    GO:0000187activation of MAPK activity IEA--
    GO:0001702gastrulation with mouth forming second IEA--
    GO:0001759organ induction IEA--
    GO:0003281ventricular septum development IEA--

    FRS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FRS2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FRS2

    5 Novoseek inferred chemical compound relationships for FRS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 70.8 68 10650943 (3), 10629055 (3), 12974390 (3), 10748122 (3) (see all 33)
    phosphotyrosine 60.6 9 10092678 (1), 12571252 (1), 16573649 (1), 17274988 (1)
    phenylalanine 39.3 1 12181353 (1)
    threonine 16.7 10 12974390 (3), 19652666 (2), 12419216 (1)
    serine 0.166 8 12974390 (3), 19652666 (2)

    Search CenterWatch for drugs/clinical trials and news about FRS2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FRS2 gene (8 alternative transcripts): 
    NM_001042555.2  NM_001278351.1  NM_001278353.1  NM_001278354.1  NM_001278355.1  NM_001278356.1  NM_001278357.1  NM_006654.4  

    Unigene Cluster for FRS2:

    Fibroblast growth factor receptor substrate 2
    Hs.593446  [show with all ESTs]
    Unigene Representative Sequence: NM_006654
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000547219 ENST00000549921 ENST00000550316 ENST00000548154 ENST00000547414
    ENST00000550389 ENST00000550937 ENST00000549092 ENST00000550169 ENST00000551325
    ENST00000299293(uc001suy.3 uc001suz.3 uc009zrj.3 uc009zrk.3)
    ENST00000397997
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    Additional mRNA sequence: 

    AF036717.1 AK226068.1 AK312477.1 BC021562.1 BX647520.1 BX647544.1 

    5 DOTS entries:

    DT.309582  DT.70101214  DT.97837653  DT.121122011  DT.102842424 

    11 AceView cDNA sequences:

    AW673335 BI092907 BC047615 BC000139 AW674577 BC003386 BC036822 AW731665 
    BC018987 BE902617 BI091995 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FRS2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10
    SP1:                    -                 -                                                   
    SP2:                    -     -     -     -                                                   
    SP3:                                      -                                                   
    SP4:                                                                                          


    ECgene alternative splicing isoforms for FRS2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FRS2 expression in normal human tissues (normalized intensities)      FRS2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAATAAAAT
    FRS2 Expression
    About this image


    FRS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Extraembryonic Ectoderm Cells Extraembryonic Ectoderm
     
     Neural Tube (Nervous System)
             Mesencephalic Ventricular Zone
     
     Thyroid (Endocrine System)

    See FRS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FRS2

    SOURCE GeneReport for Unigene cluster: Hs.593446

    UniProtKB/Swiss-Prot: FRS2_HUMAN, Q8WU20
    Tissue specificity: Highly expressed in heart, brain, spleen, lung, liver, skeletal muscle, kidney and testis

        SABiosciences Expression via Pathway-Focused PCR Arrays including FRS2: 
              Insulin Signaling Pathway in human mouse rat
              Neurotrophins & Receptors 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FRS2 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Frs21 , 5 fibroblast growth factor receptor substrate 21, 5 89.7(n)1
    95.87(a)1
      10 (65.09 cM)5
    3278261  NM_177798.31  NP_808466.11 
     1170701295 
    chicken
    (Gallus gallus)
    Aves FRS21 fibroblast growth factor receptor substrate 2 86.42(n)
    92.72(a)
      417845  NM_001199626.1  NP_001186555.1 
    lizard
    (Anolis carolinensis)
    Reptilia FRS26
    Uncharacterized protein
    85(a)
    1 ↔ 1
    GL343256.1(1581999-1624825)
    African clawed frog
    (Xenopus laevis)
    Amphibia frs2-prov2 suc1-associated neurotrophic factor target (FGFR signalling more 82.02(n)    BC046943.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.53132 Transcribed sequence with weak similarity to protein more 76.44(n)    57063066 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG133986
    --
    15(a)
    1 → many
    2L(8412144-8415256)
    worm
    (Caenorhabditis elegans)
    Secernentea rog-16
    Protein ROG-1
    12(a)
    1 → many
    II(1369046-1374985)


    ENSEMBL Gene Tree for FRS2 (if available)
    TreeFam Gene Tree for FRS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FRS2 gene
    FRS32  
    5 SIMAP similar genes for FRS2 using alignment to 9 protein entries:     FRS2_HUMAN (see all proteins):
    DOK3    FRS3    DOK2    DOK6    DOK4

    FRS2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2143 SNPs in FRS2 are shown (see all 2143)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2210691,2
    C,F--69862239(-) CcagtG/Agttct 2 -- us2k13Minor allele frequency- A:0.18NA 124
    rs1813052241,2
    --69862396(+) CCTCTC/TACTAT 2 -- us2k10--------
    rs1407597541,2
    C--69862510(+) TATTAC/GGGAAG 2 -- us2k10--------
    rs1840392761,2
    --69862797(+) AGATAA/TCTGGT 2 -- us2k10--------
    rs1448891751,2
    --69862832(+) AATCCC/GACGCC 2 -- us2k10--------
    rs797817191,2
    C--69862880(+) ACTCTC/GTGGGT 2 -- us2k10--------
    rs726481901,2
    C--69862897(+) ATTATC/GACTGC 2 -- us2k13Minor allele frequency- G:0.31WA EA 240
    rs794798151,2
    --69862926(+) CTGTAC/TTTTTC 2 -- us2k10--------
    rs2013775401,2
    C--69862951(+) CCTAC-/TCTT  
            
    TCTTT
    2 -- us2k10--------
    rs2004988101,2
    --69862955(+) CTCTT-/TCTTTTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for FRS2 (69864129 - 69973562 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FRS2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv761CNV Insertion18451855
    esv991802CNV Gain20482838

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    (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.)
    About This Section
    OMIM gene information: 607743    OMIM disorders: --

    20/22 diseases for FRS2 (see all 22):    About MalaCards
    opioid abuse    contagious pustular dermatitis    craniosynostosis, syndromic    dedifferentiated liposarcoma
    craniosynostosis    mouth disease    pheochromocytoma    liposarcoma
    dermatitis    chronic lymphocytic leukemia    neuroblastoma    prostatitis
    colon cancer    gastric cancer    endotheliitis    hepatocellular carcinoma
    thyroiditis    lung cancer    adenocarcinoma    leukemia

    1 disease from the University of Copenhagen DISEASES database for FRS2:
    Opioid abuse

    FRS2 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for FRS2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pheochromocytoma 14.9 1 11278583 (1)
    cancer 8.69 2 19456272 (2)
    tumors 0 3 12586769 (1)

    Genetic Association Database (GAD): FRS2
    Human Genome Epidemiology (HuGE) Navigator: FRS2 (3 documents)

    Export disorders for FRS2 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)
    About This Section

    PubMed articles for FRS2 gene, integrated from 9 sources (see all 114):
    (articles sorted by number of sources associating them with FRS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel recognition motif on fibroblast growth factor receptor mediates direct association and activation of SNT adapter proteins. (PubMed id 9660748)1, 2, 3 Xu H.... Goldfarb M.P. (1998)
    2. EGFR and FGFR signaling through FRS2 is subject to negative feedback control by ERK1/2. (PubMed id 12974390)1, 2, 9 Wu Y....Ullrich A. (2003)
    3. The signaling adapter FRS-2 competes with Shc for binding to the nerve growth factor receptor TrkA. A model for discriminating proliferation and differentiation. (PubMed id 10092678)1, 2, 9 Meakin S.O.... Verdi J.M. (1999)
    4. Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic. (PubMed id 18591461)1, 4, 9 Turner S.T....Boerwinkle E. (2008)
    5. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    6. TrkA alternative splicing: a regulated tumor-promoting switch in human neuroblastoma. (PubMed id 15488758)1, 2 Tacconelli A....Mackay A.R. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Structural basis of SNT PTB domain interactions with distinct neurotrophic receptors. (PubMed id 11090629)1, 2 Dhalluin C.... Zhou M.-M. (2000)
    9. Broadly expressed SNT-like proteins link FGF receptor stimulation to activators of Ras. (PubMed id 8761293)1, 3 Wang J.K....Goldfarb M. (1996)
    10. FRS2 proteins recruit intracellular signaling pathways by binding to diverse targets on fibroblast growth factor and nerve growth factor receptors. (PubMed id 10629055)1, 9 Ong S.H....Lax I. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10818 HGNC: 16971 AceView: FRS2.1 Ensembl:ENSG00000166225 euGenes: HUgn10818
    ECgene: FRS2 Kegg: 10818 H-InvDB: FRS2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FRS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FRS2 gene:
    Search GeneIP for patents involving FRS2

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



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    About This Section

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