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

FGFR2 Gene

protein-coding   GIFtS: 78
GCID: GC10M123223

Fibroblast Growth Factor Receptor 2

(Previous names: bacteria-expressed kinase, keratinocyte growth factor receptor,...)
(Previous symbols: KGFR, BEK, CFD1, JWS)
Microbiology & Infectious Diseases Congress
  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 21 2     CD3322
BEK1 2 3 5     CEK32
Keratinocyte Growth Factor Receptor1 2 3     ECT12
KGFR1 2 3     K-SAM2
CFD11 2 5     TK142
JWS1 2 5     TK252
Bacteria-Expressed Kinase1 2     BEK Fibroblast Growth Factor Receptor2
FGFR-22 3     FGF Receptor2
EC 2.7.10.13 8     Hydroxyaryl-Protein Kinase2
Craniofacial Dysostosis 11     Protein Tyrosine Kinase, Receptor Like 142
Crouzon Syndrome1     Soluble FGFR4 Variant 42
Jackson-Weiss Syndrome1     K-sam3
Pfeiffer Syndrome1     KSAM3
BBDS2     CD332 Antigen3
BFR-12     EC 2.7.108

External Ids:    HGNC: 36891   Entrez Gene: 22632   Ensembl: ENSG000000664687   OMIM: 1769435   UniProtKB: P218023   

Export aliases for FGFR2 gene to outside databases

Previous GC identifers: GC10M121401 GC10M122481 GC10M123369 GC10M122902 GC10M122147 GC10M122473 GC10M116868


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

Entrez Gene summary for FGFR2 Gene:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid
sequence is highly conserved between members and throughout evolution. FGFR family members differ from one
another in their ligand affinities and tissue distribution. A full-length representative protein consists of an
extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning
segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with
fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis
and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or
keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon
syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis
gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced
transcript variants encoding different isoforms have been noted for this gene. (provided by RefSeq, Jan 2009)

GeneCards Summary for FGFR2 Gene: 
FGFR2 (fibroblast growth factor receptor 2) is a protein-coding gene. Diseases associated with FGFR2 include craniosynostosis, and crouzon syndrome, and among its related super-pathways are Regulation of actin cytoskeleton and Glioma. GO annotations related to this gene include heparin binding and protein homodimerization activity. An important paralog of this gene is FLT4.

UniProtKB/Swiss-Prot: FGFR2_HUMAN, P21802
Function: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an
essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the
regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud
development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of
osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development.
Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated
osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling
cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and
inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and
mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1
signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation.
Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and
degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1

summary for FGFR2 Gene:
Fibroblast growth factors (FGFs) (FGF1 - 10 and 16 - 23) are mitogenic signaling molecules that have roles
in angiogenesis, wound healing, cell migration, neural outgrowth and embryonic development. FGFs bind
heparan sulfate glycosaminoglycans (HSGAGs), which facilitates dimerization (activation) of FGF receptors
(FGFRs). FGFRs are transmembrane catalytic receptors that have intracellular tyrosine kinase activity. There
are four human genes encoding FGFRs, which produce seven different receptors (FGFR1b, FGFR1c, FGFR2b,
FGFR2c, FGFR3b, FGFR3c and FGFR4) due to alternative splicing events occurring both in the extracellular and
intracellular regions. The alternative splice isoforms are generally tissue specific: the b isoform is
expressed in epithelial tissue, whereas the c isoform is expressed in mesenchymal tissue. HSGAG-FGF-FGFR
binding initiates FGFR dimerization, enabling the cytoplasmic kinase domains to transphosphorylate tyrosine
residues and become activated. HSGAGs also function to stabilize FGF-FGFR binding and prevent FGF
degradation. FGFRs couple to the PLCgamma, MAPK and PI3-K/Akt intracellular signaling cascades and there is
evidence of cross talk with the Notch signaling pathway. In addition, some activated FGF-FGFR complexes are
endocytosed and function directly in the cytosol and/or nucleus of the cell. Mutations in FGFR genes are the
cause of several human developmental disorders characterized by skeletal abnormalities such as
achondroplasia, and upregulation of FGFR expression may lead to cell transformation and cancer.

Gene Wiki entry for FGFR2 (Fibroblast growth factor receptor 2) 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_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FGFR2 gene promoter:
         AP-1   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFGFR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for FGFR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FGFR2


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

Entrez Gene cytogenetic band: 10q26   Ensembl cytogenetic band:  10q26.13   HGNC cytogenetic band: 10q25.3-q26

FGFR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FGFR2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M123223:  view genomic region     (about GC identifiers)

Start:
123,237,844 bp from pter      End:
123,357,972 bp from pter
Size:
120,129 bases      Orientation:
minus 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: FGFR2_HUMAN, P21802 (See protein sequence)
Recommended Name: Fibroblast growth factor receptor 2 precursor  
Size: 821 amino acids; 92025 Da
Subunit: Monomer. Homodimer after ligand binding. Interacts predominantly with FGF1 and FGF2, but can also
interact with FGF3, FGF4, FGF6, FGF7, FGF8, FGF9, FGF10, FGF17, FGF18 and FGF22 (in vitro). Ligand specificity is
determined by tissue-specific expression of isoforms, and differences in the third Ig-like domain are crucial for
ligand specificity. Isoform 1 has high affinity for FGF1 and FGF2, but low affinity for FGF7. Isoform 3 has high
affinity for FGF1 and FGF7, and has much higher affinity for FGF7 than isoform 1 (in vitro). Affinity for
fibroblast growth factors (FGFs) is increased by heparan sulfate glycosaminoglycans that function as coreceptors.
Likewise, KLB increases the affinity for FGF19 and FGF21. Interacts with PLCG1, GRB2 and PAK4
Subcellular location: Cell membrane; Single-pass type I membrane protein. Golgi apparatus. Cytoplasmic vesicle.
Note=Detected on osteoblast plasma membrane lipid rafts. After ligand binding, the activated receptor is rapidly
internalized and degraded
Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein. Note=After ligand binding,
the activated receptor is rapidly internalized and degraded
Subcellular location: Isoform 3: Cell membrane; Single-pass type I membrane protein. Note=After ligand binding,
the activated receptor is rapidly internalized and degraded
Subcellular location: Isoform 14: Secreted
Subcellular location: Isoform 19: Secreted
Sequence caution: Sequence=BAG57383.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6/28 PDB 3D structures from and Proteopedia for FGFR2 (see all 28):
1DJS (3D)        1E0O (3D)        1EV2 (3D)        1GJO (3D)        1II4 (3D)        1IIL (3D)    
Secondary accessions: B4DFC2 E7EVR6 E9PCR0 P18443 Q01742 Q12922 Q14300 Q14301 Q14302 Q14303
Q14304 Q14305 Q14672 Q14718 Q14719 Q1KHY5 Q86YI4 Q8IXC7 Q96KL9 Q96KM0 Q96KM1 Q96KM2 Q9NZU2
Q9NZU3 Q9UD01 Q9UD02 Q9UIH3 Q9UIH4 Q9UIH5 Q9UIH6 Q9UIH7 Q9UIH8 Q9UM87 Q9UMC6 Q9UNS7 Q9UQH7
Q9UQH8 Q9UQH9 Q9UQI0
Alternative splicing: 23 isoforms:  P21802-1   P21802-2   P21802-3   P21802-4   P21802-5   P21802-6   P21802-7   P21802-8   
P21802-9   P21802-10   P21802-11   P21802-12   P21802-13   P21802-14   P21802-15   P21802-16   
P21802-17   P21802-18   P21802-19   P21802-20   P21802-21   P21802-22   P21802-23   (Ref.2 (AAA61188) sequence is in conflict in position: 315:T->L)

Explore the universe of human proteins at neXtProt for FGFR2: NX_P21802

Explore proteomics data for FGFR2 at MOPED 

Post-translational modifications:

  • UniProtKB: Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes
    receptor dimerization and autophosphorylation on several tyrosine residues. Autophosphorylation occurs in trans
    between the two FGFR molecules present in the dimer. Phosphorylation at Tyr-769 is essential for interaction with
    PLCG1
  • UniProtKB: N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant
    form in the Golgi apparatus
  • UniProtKB: Ubiquitinated. FGFR2 is rapidly ubiquitinated after autophosphorylation, leading to internalization and
    degradation. Subject to degradation both in lysosomes and by the proteasome
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P21802

  • 4/53 DME Specific Peptides for FGFR2 (P21802) (see all 53)
     SGDDSVF  NCTNELY  RDLAARN  NIINLLG 

    FGFR2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FGFR2 Protein Expression
    REFSEQ proteins (10 alternative transcripts): 
    NP_000132.3  NP_001138385.1  NP_001138386.1  NP_001138387.1  NP_001138388.1  NP_001138389.1  NP_001138390.1  NP_001138391.1  
    NP_075259.4  NP_075418.1  

    ENSEMBL proteins: 
     ENSP00000351276   ENSP00000474011   ENSP00000348559   ENSP00000358056   ENSP00000474109  
     ENSP00000358055   ENSP00000404219   ENSP00000263451   ENSP00000410294   ENSP00000353262  
     ENSP00000358052   ENSP00000358054   ENSP00000337665   ENSP00000352309   ENSP00000350166  
     ENSP00000358057   ENSP00000309878  
    Reactome Protein details: P21802
    Human Recombinant Protein Products for FGFR2: 
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    R&D Systems Recombinant & Natural Proteins for FGFR2 (FGF R2 alpha, FGF R2 beta, FGF R2)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for FGFR2
    OriGene Protein Over-expression Lysate for FGFR2
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    Novus Biologicals FGFR2 Proteins
    Novus Biologicals FGFR2 Lysates
    Sino Biological Recombinant Protein for FGFR2
    Sino Biological Cell Lysate for FGFR2 
    ProSpec Recombinant Protein for FGFR2
    Cloud-Clone Corp. Proteins for FGFR2 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005634nucleus IDA16597614
    GO:0005737cytoplasm IDA16597614
    GO:0005794Golgi apparatus IEA--
    GO:0005886plasma membrane TAS--

    FGFR2 for ontologies           About GeneDecksing



    FGFR2 Antibody Products: 
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    Assay Products for FGFR2: 
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    Cell Signaling Technology (CST) Sandwich ELISA Kits for FGFR2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FGFR2 
    Cloud-Clone Corp. CLIAs for FGFR2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules
    ISET: Immunoglobulin superfamily / I-set domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: fibroblast growth factor receptor 2 
    FGF (fibroblast growth factor) receptor family
    FGF (fibroblast growth factor) receptor family

    5/11 InterPro protein domains (see all 11):
     IPR003598 Ig_sub2
     IPR017441 Protein_kinase_ATP_BS
     IPR013098 Ig_I-set
     IPR011009 Kinase-like_dom
     IPR016248 Tyr_kinase_fibroblast_GF_rcpt

    Graphical View of Domain Structure for InterPro Entry P21802

    ProtoNet protein and cluster: P21802

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: FGFR2_HUMAN, P21802
    Domain: The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan
    sulfate proteoglycans. Alternative splicing events affecting the third Ig-like domain are crucial for ligand
    selectivity
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor
    receptor subfamily
    Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 protein kinase domain


    FGFR2 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: FGFR2_HUMAN, P21802
    Function: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an
    essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the
    regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud
    development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of
    osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development.
    Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated
    osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling
    cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and
    inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and
    mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1
    signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation.
    Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and
    degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Present in an inactive conformation in the absence of bound ligand. Ligand binding leads to
    dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by ARQ 523 and ARQ 069; these
    compounds maintain the kinase in an inactive conformation and inhibit autophosphorylation

         Genatlas biochemistry entry for FGFR2:
    fibroblast growth factor receptor 2,involved in vertebral development

         Enzyme Numbers (IUBMB): EC 2.7.10.11 2 EC 2.7.102

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity NAS1697263
    GO:0005007fibroblast growth factor-activated receptor activity NAS1400433
    GO:0005515protein binding IPI10618369
    GO:0005524ATP binding IEA--
         
    FGFR2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for FGFR2:
     Decreased focal adhesion (FA)   Decreased number of cells in m  Decreased substrate adherent c 

         15/28 MGI mutant phenotypes (inferred from 27 alleles(MGI details for Fgfr2) (see all 28):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 

    FGFR2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FGFR2: Fgfr2tm3Lni Fgfr2tm1Lni Fgfr2tm1Cxd Fgfr2tm1.1Wrst Fgfr2tm2.1Dsn Fgfr2tm2Lni
                                                         Fgfr2tm1.1Dsn Fgfr2tm3.1Lni Fgfr2tm2.3Dsn Fgfr2tm1.1Dor Fgfr2tm2.1Lni

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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FGFR2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FGFR2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FGFR2
    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate FGFR2 (see all 32):
    hsa-miR-300 hsa-miR-374a hsa-miR-548l hsa-miR-223 hsa-miR-3658 hsa-miR-889 hsa-miR-3613-3p hsa-miR-595
    SwitchGear 3'UTR luciferase reporter plasmidFGFR2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    (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 FGFR2 About   (see all 49)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57
    2Glioma
    Prostate cancer0.39
    Signaling Pathways in Glioblastoma0.36
    3Development FGF-family signaling
    Development FGF-family signaling0.63
    FGF Pathway0.38
    4Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Actin-Based Motility by Rho Family GTPases0.62
    Apoptotic Pathways in Synovial Fibroblasts0.84
    ERK5 Signaling0.61
    p53 Mediated Apoptosis0.84
    eIF2 Pathway0.60
    5Signaling 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for FGFR2
        Selected targets of Oct-3/4
    Development FGF-family signaling

    1 R&D Systems Pathway for FGFR2
        Akt Signaling Pathway

    5/61 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FGFR2 (see all 61)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    2 Cell Signaling Technology (CST) Pathways for FGFR2
        Angiogenesis
    Tyrosine Kinases / Adaptors

    3 Tocris Bioscience Pathways for FGFR2
        Akt Pathway
    Apoptosis Pathway
    NF-kappaB Pathway

    1 GeneGo (Thomson Reuters) Pathway for FGFR2
        Development FGF-family signaling

    5/6 BioSystems Pathways for FGFR2 (see all 6)
        Angiogenesis
    MicroRNAs in cardiomyocyte hypertrophy
    Signaling Pathways in Glioblastoma
    Neural Crest Differentiation
    Regulation of Actin Cytoskeleton


    5/51        Reactome Pathways for FGFR2 (see all 51)
        FGFR2 ligand binding and activation
    FGFR ligand binding and activation
    Signaling by EGFR in Cancer
    Signaling by FGFR2 mutants
    Downstream signal transduction

    2 PharmGKB Pathways for FGFR2
        VEGF Signaling Pathway
    Vemurafenib Pathway, Pharmacodynamics

    5/6         Kegg Pathways  (Kegg details for FGFR2) (see all 6):
        MAPK signaling pathway
    Endocytosis
    PI3K-Akt signaling pathway
    Regulation of actin cytoskeleton
    Pathways in cancer


    FGFR2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FGFR2

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

    5/95 Interacting proteins for FGFR2 (P218021, 2, 3 ENSP000004102944) via UniProtKB, MINT, STRING, and/or I2D (see all 95)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FGF1P052301, 2, 3, ENSP000003385484EBI-1028658,EBI-698068 MINT-25002 I2D: score=4 STRING: ENSP00000338548
    FGF7P217811, 3, ENSP000002678434EBI-6354683,EBI-3937699 I2D: score=1 STRING: ENSP00000267843
    FGF10O155202, 3, ENSP000002646644MINT-24798 I2D: score=4 STRING: ENSP00000264664
    FGF2P090381, 3, ENSP000002644984EBI-1028658,EBI-977447 I2D: score=2 STRING: ENSP00000264498
    GRB2P629931, 3, ENSP000003390074EBI-1028658,EBI-401755 I2D: score=1 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): 5/108 biological process terms (GO ID links to tree view) (see all 108):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001525angiogenesis ISS--
    GO:0001657ureteric bud development ISS--
    GO:0001701in utero embryonic development ISS--
    GO:0002053positive regulation of mesenchymal cell proliferation ISS--

    FGFR2 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

    FGFR2 for compounds           About GeneDecksing

    EMD Millipore small molecules for FGFR2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for FGFR2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PD 161570Selective FGFR inhibitor[192705-80-9]
    PD 173074FGFR1 and -3 inhibitor[219580-11-7]
    FIIN 1 hydrochloride Potent, irreversible FGFR inhibitor [1256152-35-8]
    SU 5402Potent FGFR and VEGFR inhibitor[215543-92-3]

    2 HMDB Compounds for FGFR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    6 DrugBank Compounds for FGFR2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PaliferminFGF-7 (see all 5)162394-19-6targetbinder9056643 7499435 16854582 10593896 11752352 17456767 16390600 17728847
    4-[4-(1-Amino-1-Methylethyl)Phenyl]-5-Chloro-N-[4-(2-Morpholin-4-Ylethyl)Phenyl]Pyrimidin-2-Amine-- --target--17139284 17016423
    Ponatinib -- 943319-70-8targetinhibitor23468082
    SU4984-- --target--11752352
    Thalidomidealpha-phthalimidoglutarimide (see all 5)50-35-1targetantagonist20616958
    Regorafenib-- 755037-03-7targetinhibitor--

    10/73 Novoseek inferred chemical compound relationships for FGFR2 gene (see all 73)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pd 173074 89.4 13 16840552 (1), 19243295 (1), 20116383 (1), 14598292 (1) (see all 10)
    su5402 81.2 8 11784082 (1), 15654655 (1), 10544294 (1), 15973728 (1) (see all 8)
    trastuzumab 74.9 44 18381959 (2), 16549824 (1), 17363544 (1), 17504994 (1) (see all 33)
    tyrosine 74.7 146 15629145 (3), 16354720 (3), 15523615 (2), 1379245 (2) (see all 99)
    heparan sulfate 68.7 26 10512728 (2), 8557766 (1), 15915098 (1), 18710495 (1) (see all 18)
    heparin 62 68 7528211 (4), 10512728 (3), 12529961 (2), 9125499 (2) (see all 45)
    sucrose octasulfate 51.9 1 12242295 (1)
    suramin 41.7 5 15733146 (2), 16411766 (1), 7769258 (1), 2164679 (1)
    estrogen 41.4 40 18292933 (2), 17581308 (2), 7541595 (2), 18845558 (2) (see all 26)
    phosphotyrosine 38.4 6 7521641 (1), 12162872 (1), 20432069 (1), 8840162 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about FGFR2

    (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 FGFR2 gene (18 alternative transcripts): 
    NM_000141.4  NM_001144913.1  NM_001144914.1  NM_001144915.1  NM_001144916.1  NM_001144917.1  NM_001144918.1  NM_001144919.1  
    NM_022970.3  NM_023029.2  NM_022971.1  NM_022972.1  NM_022973.1  NM_022974.1  NM_022975.2  NM_022976.1  
    NM_023028.1  NM_023030.1  

    Unigene Cluster for FGFR2:

    Fibroblast growth factor receptor 2
    Hs.533683  [show with all ESTs]
    Unigene Representative Sequence: NM_022970
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000358487(uc001lfg.4 uc021pzw.1 uc021pzy.1 uc021pzz.1 uc010qtl.2 uc010qtm.2)
    ENST00000478859 ENST00000356226 ENST00000369060 ENST00000604236 ENST00000369059(uc001lfk.1 uc001lfn.4)
    ENST00000467584 ENST00000429361 ENST00000346997 ENST00000457416 ENST00000360144(uc021qab.1 uc021qac.1)
    ENST00000369056(uc021qaa.1) ENST00000369058 ENST00000336553(uc010qto.2)
    ENST00000463870 ENST00000490349(uc010qtp.2 uc010qtq.2) ENST00000359354
    ENST00000491475
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FGFR2
    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate FGFR2 (see all 32):
    hsa-miR-300 hsa-miR-374a hsa-miR-548l hsa-miR-223 hsa-miR-3658 hsa-miR-889 hsa-miR-3613-3p hsa-miR-595
    SwitchGear 3'UTR luciferase reporter plasmidFGFR2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FGFR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FGFR2
    Clone
    Products:
         
    OriGene clones in human, mouse for FGFR2 (see all 48)
    OriGene ORF clones in mouse, rat for FGFR2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 9): FGFR2 (NM_022970)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FGFR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FGFR2
    Sirion Biotech Customized lentivirus for stable overexpression of FGFR2 
                         Customized lentivirus expression plasmids for stable overexpression of FGFR2 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FGFR2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FGFR2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FGFR2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FGFR2

    Additional mRNA sequence: 

    AB030073.1 AB030074.1 AB030075.1 AB030076.1 AB030077.1 AB030078.1 AB084153.1 AK026508.1 
    AK294026.1 AK308621.1 BC037338.2 BC039243.1 BC096749.1 EF057068.1 EU826598.1 EU826599.1 
    EU826600.1 EU826601.1 HM437239.1 M55614.1 M80634.1 M87770.1 M87771.1 M87772.1 
    M97193.1 NR_073009.1 S41878.1 U11814.1 X52832.1 X56191.1 Z71929.1 

    23 DOTS entries:

    DT.91774392  DT.100880652  DT.95271847  DT.100045234  DT.100880682  DT.100880685  DT.91774369  DT.86855222 
    DT.120440  DT.120443  DT.121213034  DT.95257787  DT.95271840  DT.75126780  DT.95271845  DT.97810034 
    DT.121213009  DT.121213017  DT.121213065  DT.75162513  DT.91893910  DT.100760191  DT.40251431 

    24/286 AceView cDNA sequences (see all 286):

    BU678633 BQ446665 N55322 BM797325 CB217005 AI683268 BM700099 CD675930 
    BQ438964 CB305736 CA440010 BM854804 BE932236 AI073906 AI263355 CD675167 
    NM_022975 AB084153 Z71929 CB243667 CA428050 H87979 AI142488 BU688516 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for FGFR2 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                                                  -     -     -     -     -     -                 -     -                                                   
    SP2:                                                  -     -     -     -     -     -           -     -                                                         
    SP3:                                                                                            -     -                                                         
    SP4:                          -     -                 -     -     -     -     -     -           -     -                 -                                       
    SP5:                                                  -     -     -     -     -     -           -     -     -     -     -                                       

    ExUns: 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34
    SP1:                                                                              
    SP2:                                                                              
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for FGFR2

    (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

    FGFR2 expression in normal human tissues (normalized intensities)      FGFR2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCATTGCATT
    FGFR2 Expression
    About this image


    FGFR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/42 selected tissues (see all 42) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 35 entries
             Rostral Fusing Suture Cells Rostral Sutures
             Caudal Skull Membranous Bones
             sensory organ/ear/inner ear   
     
     Brain (Nervous System)    fully expand to see all 23 entries
             Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
             Thalamus
             caudate nucleus   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 14 entries
             Prechondrocytes Autopod Epiphyseal End
             fetal cartilage   
     
     Neural Tube (Nervous System)    fully expand to see all 11 entries
             Anterior Entopeduncular Progenitor Cells Anterior Entopeduncular Area
             Telencephalon
     
     Limb (Muscoskeletal System)    fully expand to see all 8 entries
             Mesenchymal Condensate Cells Zeugopod
             limb/forelimb   

    See FGFR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FGFR2

    SOURCE GeneReport for Unigene cluster: Hs.533683
        SABiosciences Expression via Pathway-Focused PCR Arrays including FGFR2: 
              Osteogenesis in human mouse rat
              Stem Cell Signaling in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FGFR2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGFR2

    (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 FGFR2 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fgfr21 , 5 fibroblast growth factor receptor 21, 5 91.6(n)1
    97.56(a)1
      7 (73.19 cM)5
    141831  NM_010207.21  NP_034337.21 
     1301624515 
    chicken
    (Gallus gallus)
    Aves FGFR21 fibroblast growth factor receptor 2 83.66(n)
    93.17(a)
      396259  NM_205319.1  NP_990650.1 
    lizard
    (Anolis carolinensis)
    Reptilia FGFR26
    Fibroblast growth factor receptor
    87(a)
    1 ↔ 1
    3(64673978-64804116)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.11822 X.laevis mRNA for fibroblast growth factor receptor-2 less 77.02(n)    X65943.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fgfr22 fibroblast growth factor receptor 2 77.59(n)   352940  AB084105.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tor3
    htl1
    eggshell pattern formation
    transmembrane receptor protein
    tyrosine kinase less3
    heartless1
    45(a)
    (best of 3)3
    51.13(n)1
    43.6(a)1
      43E123
    421601  NM_079670.21  NP_524394.21 
    worm
    (Caenorhabditis elegans)
    Secernentea egl-153 IG (immunoglobulin) superfamily (3
    domains), protein tyrosine kinase
    (fibroblast growth factor subfamily) less
    37(a)
    (best of 19)
      X(11051669-11057121)   --


    ENSEMBL Gene Tree for FGFR2 (if available)
    TreeFam Gene Tree for FGFR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FGFR2 gene
    FLT42  FGFR42  PDGFRB2  CSF1R2  KIT2  FGFR32  PDGFRA2  RET2  
    KDR2  FGFR12  FLT32  FLT12  
    18/104 SIMAP similar genes for FGFR2 using alignment to 17 protein entries:     FGFR2_HUMAN (see all proteins) (see all similar genes):
    BEK    K-SAM    TK25    CSF1R    FGFR1    FGFR3
    FLT1    FGFR-4    FGFR4    CCDC6-RETa    CCDC6-RETc    ABL1
    R12    RET/PTC2    urf-ret    R11    KIT    RET

    FGFR2 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

    10/3051 SNPs in FGFR2 are shown (see all 3051)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0041354
    Pfeiffer syndrome (PS)4--see VAR_0041352 T P mis40--------
    VAR_0041264
    Crouzon syndrome (CS)4--see VAR_0041262 K E mis40--------
    VAR_0041124
    Crouzon syndrome (CS)4--see VAR_0041122 Y C mis40--------
    VAR_0172704
    Pfeiffer syndrome (PS)4--see VAR_0172702 C G mis40--------
    VAR_0298844
    Lacrimo-auriculo-dento-digital syndrome (LADDS)4--see VAR_0298842 A T mis40--------
    VAR_0041204
    Crouzon syndrome (CS)4--see VAR_0041202 F V mis40--------
    VAR_0041374
    Pfeiffer syndrome (PS)4--see VAR_0041372 C R mis40--------
    VAR_0041444
    Crouzon syndrome (CS)4--see VAR_0041442 S C mis40--------
    VAR_0041314
    Crouzon syndrome (CS)4--see VAR_0041312 N I mis40--------
    VAR_0172734
    Crouzon syndrome (CS)4--see VAR_0172732 A S mis40--------

    HapMap Linkage Disequilibrium report for FGFR2 (123237844 - 123357972 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FGFR2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676868CNV Deletion23128226
    esv1049168CNV Deletion17803354
    nsv470972CNV Gain18288195
    nsv428239CNV Gain+Loss18775914


    Human Gene Mutation Database (HGMD): FGFR2
    2 SABiosciences Cancer Mutation PCR Assays for FGFR2:
    Cosmic IdAA Change
    36902p.N549K
    36903p.S252W
    5/6 SABiosciences Cancer Mutation PCR Arrays containing FGFR2 (see all 6):
    Tyrosine Kinases & Cell Signaling Pathways Panel 384HT
    Endometrial Cancer
    FGFR Pathway
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    4 SABiosciences qBiomarker Copy Number PCR Arrays containing FGFR2:
    Oncogenes & Tumor Suppressor Genes 384HC
    Breast Cancer
    WNT Signaling
    Kinases & Phosphatases
    SeqTarget long-range PCR primers for resequencing FGFR2
    DNA2.0 Custom Variant and Variant Library Synthesis for FGFR2

    (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: 176943   
    OMIM disorders: 123500  123150  123790  101600  101200  101400  137215  207410  149730  609579  
    UniProtKB/Swiss-Prot: FGFR2_HUMAN, P21802
  • Crouzon syndrome (CS) [MIM:123500]: An autosomal dominant syndrome characterized by craniosynostosis,
    hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla,
    and a relative mandibular prognathism. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Jackson-Weiss syndrome (JWS) [MIM:123150]: An autosomal dominant craniosynostosis syndrome characterized
    by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and
    tarsal-metatarsal coalescence. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Apert syndrome (APRS) [MIM:101200]: A syndrome characterized by facio-cranio-synostosis, osseous and
    membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and
    results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten
    hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent
    and often severe, usually being associated with cerebral malformations. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Pfeiffer syndrome (PS) [MIM:101600]: A syndrome characterized by the association of craniosynostosis,
    broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known:
    mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2);
    craniosynostosis, early demise, sporadic (type 3). Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Beare-Stevenson cutis gyrata syndrome (BSTVS) [MIM:123790]: An autosomal dominant disease characterized
    by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans,
    anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and
    are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands,
    and feet. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Familial scaphocephaly syndrome (FSPC) [MIM:609579]: An autosomal dominant craniosynostosis syndrome
    characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual
    disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long,
    narrow head. It is due to premature fusion of the sagittal suture or from external deformation. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]: An autosomal dominant ectodermal dysplasia,
    a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures.
    Lacrimo-auriculo-dento-digital syndrome is characterized by aplastic/hypoplastic lacrimal and salivary glands and
    ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In
    addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and
    abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410]: A
    rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period,
    midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly
    and/or camptodactyly have also been reported. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Bent bone dysplasia syndrome (BBDS) [MIM:614592]: A perinatal lethal skeletal dysplasia characterized by
    poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic
    pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears,
    hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 20/159 diseases for FGFR2 (see all 159):    About MalaCards
    craniosynostosis    crouzon syndrome    pfeiffer syndrome    antley-bixler syndrome
    beare-stevenson cutis gyrata syndrome    jackson-weiss syndrome    humeroradial synostosis    cardiocranial syndrome
    fgfr2-related craniosynostosis    pfeiffer syndrome type 3    fgfr2-related lacrimo-auriculo-dento-digital syndrome    acrocephalosyndactylia
    saethre-chotzen syndrome, fgfr2-related    scaphocephaly, maxillary retrusion, and mental retardation    pfeiffer syndrome type 1, 2 and 3    bent bone dysplasia syndrome
    fgfr2-related isolated coronal synostosis    saethre-chotzen syndrome    achondroplasia    crouzonodermoskeletal syndrome

    11 diseases from the University of Copenhagen DISEASES database for FGFR2:
    Craniosynostosis     Acrocephalosyndactylia     Syndactyly     Antley-Bixler syndrome
    Achondroplasia     Thanatophoric dysplasia     Exophthalmos     Hypochondroplasia
    Acanthosis nigricans     Breast cancer     Cleft palate

    FGFR2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/91 Novoseek inferred disease relationships for FGFR2 gene (see all 91)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pfeiffer syndrome 94.5 60 10712195 (2), 15523615 (2), 9462761 (2), 8644708 (2) (see all 41)
    apert syndrome 93.5 136 15041782 (5), 11596961 (4), 17251833 (4), 18242159 (4) (see all 71)
    craniosynostosis 93.1 158 11781872 (4), 18391499 (3), 10951518 (3), 11711827 (3) (see all 95)
    crouzon syndrome 91.7 89 7607643 (3), 7581378 (3), 12186468 (3), 15916101 (3) (see all 51)
    jackson-weiss syndrome 86.9 9 9385368 (2), 7581378 (2), 17552943 (1), 11571861 (1) (see all 7)
    antley-bixler syndrome 85.8 5 9605588 (1), 11430730 (1), 18259105 (1), 15793702 (1)
    syndactyly 81.5 19 9973282 (2), 8651276 (2), 9843049 (1), 9719378 (1) (see all 13)
    synostosis 75.7 5 19627528 (1), 11335797 (1), 16299148 (1), 17538304 (1) (see all 5)
    muenke syndrome 74.2 1 11571861 (1)
    saethre-chotzen syndrome 71 7 16526917 (3), 9585583 (1), 11571861 (1), 15829502 (1) (see all 5)

    GeneTests: FGFR2
    GeneReviews: FGFR2
    Genetic Association Database (GAD): FGFR2
    Human Genome Epidemiology (HuGE) Navigator: FGFR2 (77 documents)
    Tumor Gene Database (TGDB): FGFR2

    Export disorders for FGFR2 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 FGFR2 gene, integrated from 9 sources (see all 1226):
    (articles sorted by number of sources associating them with FGFR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. (PubMed id 9150725)1, 2, 4, 9 Tartaglia M.... Battaglia P.A. (1997)
    2. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. (PubMed id 11781872)1, 2, 4, 9 Kan S.-H....Wilkie A.O.M. (2002)
    3. Tyrosine 769 of the keratinocyte growth factor receptor is required for receptor signaling but not endocytosis. (PubMed id 15629145)1, 2, 9 Ceridono M....Torrisi M.R. (2005)
    4. Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. (PubMed id 7581378)1, 2, 9 Gorry M.C.... Ehrlich G.D. (1995)
    5. Genetic variants in fibroblast growth factor receptor 2 (FGFR2) contribute to susceptibility of breast cancer in Chinese women. (PubMed id 18845558)1, 4, 9 Liang J....Shen H. (2008)
    6. Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation. (PubMed id 15190072)1, 2, 9 Kaabeche K....Marie P.J. (2004)
    7. Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. (PubMed id 11390973)1, 2, 9 Ibrahimi O.A....Mohammadi M. (2001)
    8. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. (PubMed id 8528214)1, 2, 9 Park W.-J.... Jabs E.W. (1995)
    9. FGFR2 mutations are rare across histologic subtypes o f ovarian cancer. (PubMed id 20106510)1, 4, 9 Byron S.A....Pollock P.M. (2010)
    10. Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk. (PubMed id 18285324)1, 4, 9 Zhao Z.Z....Montgomery G.W. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2263 HGNC: 3689 AceView: FGFR2 Ensembl:ENSG00000066468 euGenes: HUgn2263
    ECgene: FGFR2 Kegg: 2263 H-InvDB: FGFR2

    (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 FGFR2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FGFR2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGFR2
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fgfr2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FGFR2 gene:
    Search GeneIP for patents involving FGFR2

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



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