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Aliases for FGFR2 Gene

Aliases for FGFR2 Gene

  • Fibroblast Growth Factor Receptor 2 2 3 5
  • Keratinocyte Growth Factor Receptor 2 3 4
  • Bacteria-Expressed Kinase 2 3
  • EC 2.7.10.1 4 63
  • K-SAM 3 4
  • KGFR 3 4
  • BEK 3 4
  • Protein Tyrosine Kinase, Receptor Like 14 3
  • BEK Fibroblast Growth Factor Receptor 3
  • Craniofacial Dysostosis 1 2
  • Jackson-Weiss Syndrome 2
  • Pfeiffer Syndrome 2
  • Crouzon Syndrome 2
  • CD332 Antigen 4
  • EC 2.7.10 63
  • FGFR-2 4
  • BFR-1 3
  • CD332 3
  • BBDS 3
  • CEK3 3
  • ECT1 3
  • TK14 3
  • TK25 3
  • CFD1 3
  • KSAM 4
  • JWS 3

External Ids for FGFR2 Gene

Previous HGNC Symbols for FGFR2 Gene

  • KGFR
  • BEK
  • CFD1
  • JWS

Previous GeneCards Identifiers for FGFR2 Gene

  • GC10M122481
  • GC10M123369
  • GC10M122902
  • GC10M122147
  • GC10M122473
  • GC10M123223
  • GC10M116868

Summaries for FGFR2 Gene

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 jackson-weiss syndrome and beare-stevenson cutis gyrata syndrome. Among its related pathways are Central carbon metabolism in cancer and Endocytosis. GO annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is FGFR1.

UniProtKB/Swiss-Prot for FGFR2 Gene

  • 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.

Tocris Summary for FGFR2 Gene

  • Fibroblast growth factors (FGFs) are mitogenic signaling molecules that have roles in angiogenesis, wound healing, cell migration, neural outgrowth and embryonic development. FGF receptors (FGFRs) are transmembrane catalytic receptors with intracellular tyrosine kinase activity.

Gene Wiki entry for FGFR2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGFR2 Gene

Genomics for FGFR2 Gene

Regulatory Elements for FGFR2 Gene

Enhancers for FGFR2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FGFR2 on UCSC Golden Path with GeneCards custom track

Promoters for FGFR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FGFR2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the FGFR2 gene promoter:

Genomic Location for FGFR2 Gene

Chromosome:
10
Start:
121,478,330 bp from pter
End:
121,598,656 bp from pter
Size:
120,327 bases
Orientation:
Minus strand

Genomic View for FGFR2 Gene

Genes around FGFR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGFR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGFR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGFR2 Gene

Proteins for FGFR2 Gene

  • Protein details for FGFR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21802-FGFR2_HUMAN
    Recommended name:
    Fibroblast growth factor receptor 2
    Protein Accession:
    P21802
    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

    Protein attributes for FGFR2 Gene

    Size:
    821 amino acids
    Molecular mass:
    92025 Da
    Quaternary structure:
    • 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. Interacts with FLRT2 (By similarity).
    SequenceCaution:
    • Sequence=BAG57383.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FGFR2 Gene

neXtProt entry for FGFR2 Gene

Proteomics data for FGFR2 Gene at MOPED

Post-translational modifications for FGFR2 Gene

  • 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.
  • N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.
  • Ubiquitinated. FGFR2 is rapidly ubiquitinated after autophosphorylation, leading to internalization and degradation. Subject to degradation both in lysosomes and by the proteasome.
  • Glycosylation at Asn 83, Asn 123, Asn 228, Asn 241, Asn 265, Asn 297, Asn 318, and Asn 331
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FGFR2 (FGFR2)

Protein Products

Domains & Families for FGFR2 Gene

Graphical View of Domain Structure for InterPro Entry

P21802

UniProtKB/Swiss-Prot:

FGFR2_HUMAN :
  • 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.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.
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.
  • Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.
genes like me logo Genes that share domains with FGFR2: view

Function for FGFR2 Gene

Molecular function for FGFR2 Gene

GENATLAS Biochemistry:
fibroblast growth factor receptor 2,involved in vertebral development
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for FGFR2 Gene

Gene Ontology (GO) - Molecular Function for FGFR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity IEA,TAS --
GO:0005007 fibroblast growth factor-activated receptor activity IEA,NAS 1400433
GO:0042803 protein homodimerization activity IPI 16844695
genes like me logo Genes that share ontologies with FGFR2: view
genes like me logo Genes that share phenotypes with FGFR2: view

Human Phenotype Ontology for FGFR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGFR2 Gene

MGI Knock Outs for FGFR2:

miRNA for FGFR2 Gene

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for FGFR2 Gene

Localization for FGFR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGFR2 Gene

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.
Isoform 1: Cell membrane; Single-pass type I membrane protein. Note=After ligand binding, the activated receptor is rapidly internalized and degraded.
Isoform 3: Cell membrane; Single-pass type I membrane protein. Note=After ligand binding, the activated receptor is rapidly internalized and degraded.
Isoform 14: Secreted.
Isoform 19: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FGFR2 Gene COMPARTMENTS Subcellular localization image for FGFR2 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
nucleus 5
plasma membrane 5
cytoskeleton 2
endoplasmic reticulum 2
cytosol 1
endosome 1
lysosome 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for FGFR2 Gene

Pathways & Interactions for FGFR2 Gene

SuperPathways for FGFR2 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 PI3K events in ERBB4 signaling
4 GPCR Pathway
5 Akt Signaling Pathway
genes like me logo Genes that share pathways with FGFR2: view

SIGNOR curated interactions for FGFR2 Gene

Activates:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for FGFR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0001525 angiogenesis ISS --
GO:0001657 ureteric bud development ISS --
genes like me logo Genes that share ontologies with FGFR2: view

Drugs & Compounds for FGFR2 Gene

(74) Drugs for FGFR2 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palifermin Approved Pharma binder, Target 0
Lenvatinib Approved Pharma inhibitor, Target Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 46
Nintedanib Approved Pharma inhibitor, Target VEGFR, FGFR, PDGFR, and FLT3 inhibitor, Kinase Inhibitors 106
ponatinib Approved Pharma inhibitor, Target Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors 30
regorafenib Approved Pharma inhibitor, Target Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0

(41) Additional Compounds for FGFR2 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
cis,trans-5'-Hydroxythalidomide
PD 161570
192705-80-9
PD 166285 dihydrochloride
212391-63-4
SU 5402
215543-92-3

(5) Tocris Compounds for FGFR2 Gene

Compound Action Cas Number
PD 161570 Selective FGFR inhibitor 192705-80-9
PD 166285 dihydrochloride Potent Src inhibitor; also inhibits FGFR1, PDGFRbeta and Wee1 212391-63-4
PD 173074 FGFR1 and -3 inhibitor 219580-11-7
SU 5402 Potent FGFR and VEGFR inhibitor 215543-92-3
SU 6668 PDGFR, VEGFR and FGFR inhibitor 252916-29-3

(3) ApexBio Compounds for FGFR2 Gene

Compound Action Cas Number
AZD4547 FGFR inhibitor 1035270-39-3
BGJ398 FGFR inhibitor ,potent and selective 872511-34-7
LY2874455 FGF/FGFR Inhibitor 1254473-64-7
genes like me logo Genes that share compounds with FGFR2: view

Drug Products

Transcripts for FGFR2 Gene

Unigene Clusters for FGFR2 Gene

Fibroblast growth factor receptor 2:
Representative Sequences:

CRISPR Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGFR2 Gene

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: - - - - - - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for FGFR2 Gene

GeneLoc Exon Structure for
FGFR2
ECgene alternative splicing isoforms for
FGFR2

Expression for FGFR2 Gene

mRNA expression in normal human tissues for FGFR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGFR2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.9).

Protein differential expression in normal tissues from HIPED for FGFR2 Gene

This gene is overexpressed in Heart (54.2) and Pancreatic juice (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FGFR2 Gene



SOURCE GeneReport for Unigene cluster for FGFR2 Gene Hs.533683

genes like me logo Genes that share expression patterns with FGFR2: view

Protein tissue co-expression partners for FGFR2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for FGFR2 Gene

Orthologs for FGFR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FGFR2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FGFR2 35
  • 91.38 (n)
  • 96.22 (a)
FGFR2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FGFR2 35
  • 92.04 (n)
  • 98.96 (a)
FGFR2IIIC 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fgfr2 35
  • 89.38 (n)
  • 94.87 (a)
Fgfr2 16
Fgfr2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FGFR2 35
  • 95.79 (n)
  • 95.34 (a)
FGFR2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fgfr2 35
  • 89.21 (n)
  • 94.51 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia FGFR2 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FGFR2 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves FGFR2 35
  • 81.66 (n)
  • 90.46 (a)
FGFR2 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FGFR2 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgfr2 35
  • 70.92 (n)
  • 75.84 (a)
Str.1655 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1182 35
zebrafish
(Danio rerio)
Actinopterygii fgfr2 35
  • 70.89 (n)
  • 76.65 (a)
fgfr2 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta btl 37
  • 38 (a)
htl 37
  • 41 (a)
tor 37
  • 45 (a)
btl 35
  • 49.26 (n)
  • 42.06 (a)
btl 36
  • 28 (a)
ManyToMany
htl 36
  • 37 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003108 35
  • 54.22 (n)
  • 48.54 (a)
worm
(Caenorhabditis elegans)
Secernentea C24G6.2a 37
  • 36 (a)
C24G6.2b 37
  • 36 (a)
egl-15 37
  • 37 (a)
F09A5.2 37
  • 30 (a)
F09G2.1 37
  • 32 (a)
F59A3.8 37
  • 34 (a)
kin-16 37
  • 34 (a)
old-1 37
  • 34 (a)
old-2 37
  • 36 (a)
R09D1.12 37
  • 31 (a)
R09D1.13 37
  • 31 (a)
R151.4 37
  • 37 (a)
ver-2 37
  • 27 (a)
ver-4 37
  • 27 (a)
W04G5.10 37
  • 34 (a)
Y38H6C.20 37
  • 31 (a)
Y50D4B.6 37
  • 31 (a)
egl-15 36
  • 25 (a)
OneToMany
kin-9 37
  • 36 (a)
kin-23 37
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2511 35
Species with no ortholog for FGFR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FGFR2 Gene

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

Paralogs for FGFR2 Gene

genes like me logo Genes that share paralogs with FGFR2: view

Variants for FGFR2 Gene

Sequence variations from dbSNP and Humsavar for FGFR2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_004112 Crouzon syndrome (CS)
VAR_004113 Crouzon syndrome (CS)
VAR_004114 Apert syndrome (APRS)
VAR_004115 Apert syndrome (APRS)
VAR_004115 Pfeiffer syndrome (PS)

Structural Variations from Database of Genomic Variants (DGV) for FGFR2 Gene

Variant ID Type Subtype PubMed ID
nsv428239 CNV Gain+Loss 18775914
nsv470972 CNV Gain 18288195
esv2676868 CNV Deletion 23128226
esv1049168 CNV Deletion 17803354

Variation tolerance for FGFR2 Gene

Residual Variation Intolerance Score: 7.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.94; 67.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FGFR2 Gene

HapMap Linkage Disequilibrium report
FGFR2
Human Gene Mutation Database (HGMD)
FGFR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGFR2 Gene

Disorders for FGFR2 Gene

MalaCards: The human disease database

(66) MalaCards diseases for FGFR2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
jackson-weiss syndrome
  • jws
beare-stevenson cutis gyrata syndrome
  • cutis gyrata syndrome of beare-stevenson
crouzon syndrome
  • craniofacial dysostosis
apert syndrome
  • acrocephalosyndactyly
bent bone dysplasia syndrome
  • bent bone dysplasia -fgfr2 type
- elite association - COSMIC cancer census association via MalaCards
Search FGFR2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGFR2_HUMAN
  • 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. {ECO:0000269 PubMed:10633130}. 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. {ECO:0000269 PubMed:11781872, ECO:0000269 PubMed:7668257, ECO:0000269 PubMed:7719344, ECO:0000269 PubMed:9002682, ECO:0000269 PubMed:9452027, ECO:0000269 PubMed:9677057}. 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. {ECO:0000269 PubMed:12000365, ECO:0000269 PubMed:8696350}. 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. {ECO:0000269 PubMed:22387015}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:10574673, ECO:0000269 PubMed:11173845, ECO:0000269 PubMed:11380921, ECO:0000269 PubMed:11781872, ECO:0000269 PubMed:7581378, ECO:0000269 PubMed:7655462, ECO:0000269 PubMed:7874170, ECO:0000269 PubMed:7987400, ECO:0000269 PubMed:8528214, ECO:0000269 PubMed:8644708, ECO:0000269 PubMed:8946174, ECO:0000269 PubMed:8956050, ECO:0000269 PubMed:9002682, ECO:0000269 PubMed:9152842, ECO:0000269 PubMed:9521581, ECO:0000269 PubMed:9677057, ECO:0000269 Ref.10}. 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. {ECO:0000269 PubMed:16061565}. 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. {ECO:0000269 PubMed:7874170, ECO:0000269 PubMed:8528214, ECO:0000269 PubMed:8644708, ECO:0000269 PubMed:9385368, ECO:0000269 PubMed:9677057}. 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. {ECO:0000269 PubMed:16501574}. 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). {ECO:0000269 PubMed:10394936, ECO:0000269 PubMed:10945669, ECO:0000269 PubMed:11173845, ECO:0000269 PubMed:11781872, ECO:0000269 PubMed:7719333, ECO:0000269 PubMed:7719345, ECO:0000269 PubMed:8644708, ECO:0000269 PubMed:9002682, ECO:0000269 PubMed:9150725, ECO:0000269 PubMed:9693549, ECO:0000269 PubMed:9719378}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FGFR2

Genetic Association Database (GAD)
FGFR2
Human Genome Epidemiology (HuGE) Navigator
FGFR2
Tumor Gene Database (TGDB):
FGFR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FGFR2
genes like me logo Genes that share disorders with FGFR2: view

No data available for Genatlas for FGFR2 Gene

Publications for FGFR2 Gene

  1. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. (PMID: 9150725) Tartaglia M. … Battaglia P.A. (Hum. Genet. 1997) 3 4 23 48 67
  2. FGFR2 mutations are rare across histologic subtypes of ovarian cancer. (PMID: 20106510) Byron S.A. … Pollock P.M. (Gynecol. Oncol. 2010) 3 23
  3. Anti-angiogenesis therapies: their potential in cancer management. (PMID: 20616958) Eichholz A. … Gaya A.M. (Onco Targets Ther 2010) 25 26
  4. FGFR2-related pathogenesis and FGFR2-targeted therapeutics (Review). (PMID: 19212647) Katoh Y. … Katoh M. (Int. J. Mol. Med. 2009) 3 23
  5. FGF4 and retinoic acid direct differentiation of hESCs into PDX1-expressing foregut endoderm in a time- and concentration-dependent manner. (PMID: 19277121) Johannesson M. … Semb H. (PLoS ONE 2009) 3 23

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