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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)
 Explore 176 diseases affiliated with
FGFR2 via
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 Human Malady Compendium 
Biological research products
for FGFR2    

Aliases
for FGFR2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Fibroblast Growth Factor Receptor 21 2     EC 2.7.10.13 8
BEK1 2 3 5     Craniofacial Dysostosis 11
Keratinocyte Growth Factor Receptor1 2 3     Jackson-Weiss Syndrome1
KGFR1 2 3     BBDS2
CFD11 2 5     BFR-12
JWS1 2 5     BEK Fibroblast Growth Factor Receptor2
CD3321 2     FGF Receptor2
CEK31 2     Hydroxyaryl-Protein Kinase2
ECT11 2     Protein Tyrosine Kinase, Receptor Like 142
K-SAM1 2     Soluble FGFR4 Variant 42
TK141 2     K-Sam1
TK251 2     KSAM3
Bacteria-Expressed Kinase1 2     CD332 Antigen3
FGFR-22 3     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


Summaries
for FGFR2 gene

(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:
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)

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:
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)


Genomic Views
for FGFR2 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  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 plasmid: FGFR2 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

Proteins
for FGFR2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • 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
    PLCG11
  • N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form
    • in the Golgi apparatus1
  • Ubiquitinated. FGFR2 is rapidly ubiquitinated after autophosphorylation, leading to internalization and degradation.
    • Subject to degradation both in lysosomes and by the proteasome1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000348559   ENSP00000358056   ENSP00000358055   ENSP00000404219  
     ENSP00000263451   ENSP00000410294   ENSP00000353262   ENSP00000358052   ENSP00000358054  
     ENSP00000337665   ENSP00000352309   ENSP00000350166   ENSP00000358057   ENSP00000309878  
    Reactome Protein details: P21802
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant FGFR2 Protein
    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: FGFR2
    OriGene Protein Over-expression Lysate: FGFR2
    OriGene Custom Protein Services for FGFR2 
    GenScript Custom Purified and Recombinant Proteins Services for FGFR2
    Novus Biologicals FGFR2 Proteins
    Novus Biologicals FGFR2 Lysates
    Sino Biological Recombinant Protein for FGFR2
    ProSpec Recombinant Protein for FGFR2
    Uscn 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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    Cell Signaling Technology (CST) Antibodies for FGFR2 
    OriGene Antibodies (see all 11): FGFR2
    OriGene Custom Antibody Services for FGFR2 
    GenScript Custom Superior Antibodies Services for FGFR2
    Novus Biologicals FGFR2 Antibodies
    Abcam antibodies for FGFR2 
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    ThermoFisher Antibody for FGFR2

    Assay Products for FGFR2: 
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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for FGFR2

    Protein Domains /
    Families
    for FGFR2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FGFR2 for domains           About GeneDecksing

    5/11 InterPro domains/families (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 families:
    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


    Function
    for FGFR2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 9): FGFR2
    Browse MicroRNA Expression Plasmids
    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 plasmid: FGFR2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FGFR2 (see all 7)
    OriGene shRNA RFP: FGFR2
    OriGene siRNA: FGFR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FGFR2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for FGFR2

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FGFR2 (see all 19)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FGFR2 (see all 13)
    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)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FGFR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FGFR2 

    Cell Line
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    Search LifeMap BioReagents cell lines for FGFR2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGFR2

    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004713protein tyrosine kinase activity NAS1697263
    GO:0005007fibroblast growth factor-activated receptor activity NAS1400433
    GO:0005515protein binding IPI1309608
    GO:0005524ATP binding IEA--
    GO:0008201heparin binding IEA--


    FGFR2 for ontologies           About GeneDecksing


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

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


    Pathways & Interactions
    for FGFR2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/45 super-pathways (see all 45) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptotic Pathways in Synovial Fibroblasts
    8/13 pathways (see all 13)
    		Apoptotic Pathways in Synovial Fibroblasts1.00
    		ERK5 Signaling0.61
    		p53 Mediated Apoptosis0.84
    		eIF2 Pathway0.60
    		Mitochondrial Apoptosis0.73
    		Rac1 Pathway0.58
    		Telomerase Components in Cell Signaling0.72
    		Nuclear Receptor Activation by Vitamin-A0.57
    2Signaling by FGFR
    8/12 pathways (see all 12)
    		Signaling by FGFR1.00
    		DAP12 signaling0.83
    		Downstream signaling of activated FGFR0.92
    		Signaling by EGFR in Cancer0.83
    		Signaling by FGFR in disease0.91
    		DAP12 interactions0.76
    		Signaling by ERBB20.89
    		Signaling by PDGF0.72
    3PIP3 activates AKT signaling
    8/10 pathways (see all 10)
    		PIP3 activates AKT signaling1.00
    		PI3K/AKT activation0.97
    		PI3K/AKT Signaling in Cancer1.00
    		GAB1 signalosome0.96
    		PI3K events in ERBB2 signaling1.00
    		Constitutive PI3K/AKT Signaling in Cancer0.88
    		PI3K events in ERBB4 signaling1.00
    		Signaling by SCF-KIT0.72
    4FGFR2c binds to FGF
    8/9 pathways (see all 9)
    		FGFR2c binds to FGF1.00
    		FGFR ligand binding and activation0.57
    		FGFR2c ligand binding and activation1.00
    		SHC-mediated cascade0.45
    		FGFR2 ligand binding and activation0.76
    		FRS2-mediated cascade0.34
    		Signaling by FGFR2 mutants0.76
    		Negative regulation of FGFR signaling0.33
    5IRS-related events
    		IRS-related events1.00
    		Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.90
    		IRS-mediated signalling0.98
    		IGF1R signaling cascade0.90
    		Insulin receptor signalling cascade0.94
    		PI3K Cascade0.84
    		IRS-related events triggered by IGF1R0.93
    		Signaling by Insulin receptor0.74

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    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
    Neural Crest Differentiation
    Signaling Pathways in Glioblastoma
    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

    1 PharmGKB Pathway for FGFR2
        Vemurafenib Pathway, Pharmacodynamics

    5         Kegg Pathways  (Kegg details for FGFR2):
        MAPK signaling pathway
    Endocytosis
    Regulation of actin cytoskeleton
    Pathways in cancer
    Prostate 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)
    FGF4P086202, 3, ENSP000001687124MINT-8400532 I2D: score=1 STRING: ENSP00000168712
    FGF1P052301, 2, 3, ENSP000003385484EBI-1028658,EBI-698068 MINT-25002 I2D: score=4 STRING: ENSP00000338548
    FGF2P090381, 2, 3, ENSP000002644984EBI-1028658,EBI-977447 MINT-8400514 I2D: score=2 STRING: ENSP00000264498
    FGF7P217811, 3, ENSP000002678434EBI-6354683,EBI-3937699 I2D: score=1 STRING: ENSP00000267843
    FGF10O155202, 3, ENSP000002646644MINT-24798 I2D: score=4 STRING: ENSP00000264664
    About this table

    Gene Ontology (GO): 5/101 biological process terms (GO ID links to tree view) (see all 101):    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



    Drugs & Compounds
    for FGFR2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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]
    SU 6668 PDGFR, VEGFR and FGFR inhibitor [252916-29-3]
    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--

    4 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
    SU4984-- --target--11752352
    Thalidomidealpha-phthalimidoglutarimide (see all 5)50-35-1targetantagonist20616958

    10/73 Novoseek 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 

    Transcripts
    for FGFR2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000358487(uc001lfg.4 uc021pzw.1 uc021pzy.1 uc021pzz.1 uc010qtl.2 uc010qtm.2)
    ENST00000478859 ENST00000356226 ENST00000369060 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 ENST00000491111

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 9): FGFR2
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: FGFR2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FGFR2 (see all 7)
    OriGene shRNA RFP: FGFR2
    OriGene siRNA: FGFR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FGFR2
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FGFR2 (see all 19)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FGFR2 (see all 13)
    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 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FGFR2
    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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):

    AA256152 NM_022970 NM_000141 S41878 BE932236 BI035787 AI073906 AI683268 
    Z71929 BM700099 CA440010 CD675930 AI188214 AI142488 CB243667 AA033657 
    BU688516 BQ438964 CA428050 H88160 AI638356 BX499228 CD675167 AA953586 

    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

    Expression
    for FGFR2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCATTGCATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FGFR2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/56 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 56) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneFacial SuturesFacial Fusing Suture CellsBone
    BoneRostral SuturesRostral Fusing Suture CellsBone
    BoneAutopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneAutopod Epiphyseal EndPrechondrocytesBone, Cartilage
    BoneAutopod PeriosteumEndochondral OsteocytesBone
    BoneAutopod PeriosteumImmature Endochondral OsteoblastsBone
    BoneCaudal Endochondral BonesEndochondral OsteocytesBone
    BoneCervical VertebraeImmature Endochondral OsteoblastsBone
    BoneEndochondral Facial BonesEndochondral OsteocytesBone
    BoneLumbar VertebraeImmature Endochondral OsteoblastsBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Trophoblast-like cells (Generation of tropho...)

    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
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FGFR2
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FGFR2
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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
    for FGFR2 gene

    (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 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 87(a)
    		 1 ↔ 1
    		 3(64674121-64804110)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.11822 X.laevis mRNA for fibroblast growth factor receptor-2 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 more3
    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 more    		 37(a)
    (best of 19)    		   X(11051669-11057121)   --


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

    Paralogs
    for FGFR2 gene

    (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  FGFR32  KIT2  PDGFRA2  RET2  
    KDR2  FGFR12  FLT32  FLT12  
    18/85 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
    RET/PTC2    urf-ret    KIT    RET    BTK kinase deficient isoform 6    TIE1

    FGFR2 for paralogs           About GeneDecksing



    Genomic Variants
    for FGFR2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2479 NCBI SNPs in FGFR2 are shown (see all 2479)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs791849411,2
    		Cpathogenic120352740(-) GCGATC/GGCCTC 20 S W mis1 int10--------
    rs775436101,2
    		Cpathogenic120352743(+) GGTGAC/GGCGAT 20 P R mis1 int10--------
    rs1219185011,2
    		Cpathogenic120352853(-) TCCAGC/G/TGGATC 30 R G W mis1 int10--------
    rs1219184991,2
    		Cpathogenic120352855(-) CAGTGC/G/TATCAA 30 C W mis1 int10--------
    rs1219184881,2
    		Cpathogenic120355524(-) ATACGA/C/TGCTTG 22 S R C mis1 int10--------
    rs1219134771,2
    		Cpathogenic120357614(-) AGCTTC/GCCCAG 20 S C mis1 int10--------
    rs1219134781,2
    		Cpathogenic120357623(-) AGACTA/GCCTGG 20 Y C mis1 int10--------
    rs412943651,2
    		C,--116868393(-) CATGAT/CGTATG 9 -- ds50015Minor allele frequency- C:0.00NS 190
    rs412943631,2
    		C,F,--116868431(-) AATCCT/GGGGGA 9 -- ds50016Minor allele frequency- G:0.02NS WA 308
    rs412943611,2
    		C,F,--116868522(-) AAACAA/CAGAGC 9 -- ds50016Minor allele frequency- C:0.03NS WA 306

    HapMap Linkage Disequilibrium report for FGFR2 (123237844 - 123357972 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FGFR2
         1 Indel: 24351
    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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FGFR2
    DNA2.0 Custom Variant and Variant Library Synthesis for FGFR2

    Disorders / Diseases
    for FGFR2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FGFR2 for disorders           About GeneDecksing

    OMIM gene information: 176943   
    OMIM disorders: 123500  123150  123790  101600  101200  101400  137215  207410  149730  609579  
    UniProtKB/Swiss-Prot: FGFR2_HUMAN, P21802
  • Defects in FGFR2 are the cause of Crouzon syndrome (CS) [MIM:123500]; also called craniofacial dysostosis type
    • I (CFD1). CS is an autosomal dominant syndrome characterized by craniosynostosis (premature fusion of the skull
    sutures), hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic
    maxilla, and a relative mandibular prognathism
  • Defects in FGFR2 are a cause of Jackson-Weiss syndrome (JWS) [MIM:123150]. JWS is an autosomal dominant
    • craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes
    with medial deviation and tarsal-metatarsal coalescence
  • Defects in FGFR2 are a cause of Apert syndrome (APRS) [MIM:101200]; also known as acrocephalosyndactyly type 1
    • (ACS1). APRS is 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
  • Defects in FGFR2 are a cause of Pfeiffer syndrome (PS) [MIM:101600]; also known as acrocephalosyndactyly type
    • V (ACS5). PS is characterized by craniosynostosis (premature fusion of the skull sutures) with deviation and
    enlargement of the thumbs and great toes, brachymesophalangy, with phalangeal ankylosis and a varying degree of soft
    tissue syndactyly. Three subtypes of Pfeiffer syndrome have been described: mild autosomal dominant form (type 1);
    cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3)
  • Defects in FGFR2 are the cause of Beare-Stevenson cutis gyrata syndrome (BSTVS) [MIM:123790]. BSCGS is an
    • autosomal dominant condition is characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans,
    craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death
  • Defects in FGFR2 are the cause of familial scaphocephaly syndrome (FSPC) [MIM:609579]; also known as
    • scaphocephaly with maxillary retrusion and mental retardation. FSPC is 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
  • Defects in FGFR2 are a cause of lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]; also known as
    • Levy-Hollister syndrome. LADDS is a form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal
    development of two or more ectodermal structures. LADDS is an autosomal dominant syndrome 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
  • Defects in FGFR2 are the cause of 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
  • Defects in FGFR2 are the cause of Bent bone dysplasia syndrome (BBDS) [MIM:614592]. BBDS is 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

    20/176 diseases for FGFR2 (see all 176):    About MalaCards
    jackson-weiss syndrome    beare-stevenson cutis gyrata syndrome    saethre-chotzen syndrome    scaphocephaly, maxillary retrusion, and mental retardation
    crouzon syndrome    pfeiffer syndrome    craniosynostosis    scaphocephaly and axenfeld-rieger anomaly
    achondroplasia    antley-bixler syndrome    acanthosis nigricans    dysostosis
    hay-wells syndrome    estrogen-receptor positive breast cancer    crouzon syndrome with acanthosis nigricans    xy sex reversal
    humeroradial synostosis    craniosynostosis, nonspecific    craniofacial anomalies    middle ear cholesteatoma

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

    10/91 Novoseek 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
    FGFR-Related Craniosynostosis

    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

    Publications
    for FGFR2 gene

    (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 1200):
    (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. 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)
    6. Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. (PubMed id 11390973)1, 2, 9 Ibrahimi O.A....Mohammadi M. (2001)
    7. 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)
    8. FGFR2-Cbl interaction in lipid rafts triggers attenuation of PI3K/Akt signaling and osteoblast survival. (PubMed id 18374639)1, 2, 9 Dufour C....Marie P.J. (2008)
    9. Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. (PubMed id 18056630)1, 2, 9 Lew E.D....Schlessinger J. (2007)
    10. Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations. (PubMed id 11856867)1, 2, 9 Ingersoll R.G....Jabs E.W. (2001)

    External Searches for FGFR2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing FGFR2 gene

    (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

    Other Databases showing FGFR2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FGFR2 gene

    (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/

    Intellectual Property
    for FGFR2 gene

    (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:
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