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Aliases for FGFR2 Gene

Aliases for FGFR2 Gene

  • Fibroblast Growth Factor Receptor 2 2 3
  • Keratinocyte Growth Factor Receptor 2 3 4
  • BEK 3 4 6
  • Bacteria-Expressed Kinase 2 3
  • EC 2.7.10.1 4 63
  • K-SAM 3 4
  • KGFR 3 4
  • BBDS 3 6
  • TK14 3 6
  • CFD1 3 6
  • JWS 3 6
  • Protein Tyrosine Kinase, Receptor Like 14 3
  • BEK Fibroblast Growth Factor Receptor 3
  • FGFR2-AHCYL1 Fusion Kinase Protein 3
  • Hydroxyaryl-Protein Kinase 3
  • Craniofacial Dysostosis 1 2
  • Soluble FGFR4 Variant 4 3
  • Jackson-Weiss Syndrome 2
  • Pfeiffer Syndrome 2
  • Crouzon Syndrome 2
  • CD332 Antigen 4
  • FGF Receptor 3
  • EC 2.7.10 63
  • FGFR-2 4
  • BFR-1 3
  • CD332 3
  • CEK3 3
  • ECT1 3
  • TK25 3
  • KSAM 4

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 pfeiffer syndrome and jackson-weiss syndrome. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include protein homodimerization activity and heparin binding. An important paralog of this gene is FGFR3.

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) (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 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

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FGFR2 Gene

Start:
121,478,330 bp from pter
End:
121,598,458 bp from pter
Size:
120,129 bases
Orientation:
Minus strand

Genomic View for FGFR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.
    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 Asn83, Asn123, Asn228, Asn241, Asn265, Asn297, Asn318, and Asn331
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Protein Products

Domains for FGFR2 Gene

Gene Families for FGFR2 Gene

Graphical View of Domain Structure for InterPro Entry

P21802

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.
  • 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:0004672 protein kinase activity --
GO:0004713 protein tyrosine kinase activity NAS 1697263
GO:0005007 fibroblast growth factor-activated receptor activity NAS 1400433
GO:0005515 protein binding IPI 10618369
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with FGFR2: view
genes like me logo Genes that share phenotypes with FGFR2: view

Animal Models for FGFR2 Gene

MGI Knock Outs for FGFR2:

Animal Model Products

CRISPR Products

miRNA for FGFR2 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FGFR2

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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 1
endosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FGFR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IDA 16597614
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 16597614
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with FGFR2: view

Pathways for FGFR2 Gene

SuperPathways for FGFR2 Gene

Superpath Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
2 PI-3K cascade
3 Signaling by FGFR
4 FGFR ligand binding and activation
5 GPCR Pathway
genes like me logo Genes that share pathways with FGFR2: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0001525 angiogenesis ISS --
GO:0001657 ureteric bud development ISS --
GO:0001701 in utero embryonic development ISS --
GO:0001837 epithelial to mesenchymal transition IEA --
genes like me logo Genes that share ontologies with FGFR2: view

Compounds for FGFR2 Gene

Compound Products

(4) Tocris Compounds for FGFR2 Gene

Compound Action Cas Number
FIIN 1 hydrochloride Potent, irreversible FGFR inhibitor [1256152-35-8]
PD 161570 Selective FGFR inhibitor [192705-80-9]
PD 173074 FGFR1 and -3 inhibitor [219580-11-7]
SUN 11602 Basic fibroblast growth factor (bFGF) mimetic; neuroprotective [704869-38-5]

(13) ApexBio Compounds for FGFR2 Gene

Compound Action Cas Number
AP26113 Dual inhibitor of anaplastic lymphoma kinase (ALK) and epidermal growth factor receptor (EGFR). [1197958-12-5]
AZD4547 Potent, selective, and ATP-competitive FGFR inhibitor [1035270-39-3]
BGJ398 FGFR inhibitor [872511-34-7]
Danusertib (PHA-739358) Pan-aurora kinase inhibitor [827318-97-8]
Dovitinib (TKI-258, CHIR-258) novel multitargeted growth factor receptor kinase inhibitor of FLT3, c-KIT, FGFR1/3, VEGFR1/2/3 [405169-16-6]
E-3810 novel dual inhibitor targeting VEGFRs and FGFRs [1058137-23-7]
Fenretinide synthetic retinoid deriverative. [65646-68-6]
LY2874455 novel and potent FGF/FGFR Inhibitor. [1254473-64-7]
Nintedanib (BIBF 1120) Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR [928326-83-4]
Pazopanib (GW-786034) Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR [635702-64-6]
PD 173074 Potent, ATP-competitive, and reversible FGFR inhibitor [219580-11-7]
Ponatinib (AP24534) pan-BCR-ABL inhibitor [943319-70-8]
SKLB610 Potent VEGFR inhibitor [1125780-41-7]

(2) HMDB Compounds for FGFR2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(6) Drugbank Compounds for FGFR2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
4-[4-(1-Amino-1-Methylethyl)Phenyl]-5-Chloro-N-[4-(2-Morpholin-4-Ylethyl)Phenyl]Pyrimidin-2-Amine
target
Palifermin
  • FGF-7
162394-19-6 target binder
Ponatinib
943319-70-8 target inhibitor
Regorafenib
755037-03-7 target inhibitor
SU4984
target

(73) Novoseek inferred chemical compound relationships for FGFR2 Gene

Compound -log(P) Hits PubMed IDs
pd 173074 89.4 10
su5402 81.2 8
trastuzumab 74.9 34
tyrosine 74.7 108
heparan sulfate 68.7 19
genes like me logo Genes that share compounds with FGFR2: view

Transcripts for FGFR2 Gene

Unigene Clusters for FGFR2 Gene

Fibroblast growth factor receptor 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FGFR2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for FGFR2

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) (6.9).

Integrated Proteomics: protein expression 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 expressions with FGFR2: view

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
chimpanzee
(Pan troglodytes)
Mammalia FGFR2 35
  • 95.79 (n)
  • 95.34 (a)
FGFR2 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia FGFR2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FGFR2 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fgfr2 35
  • 89.21 (n)
  • 94.51 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.1182 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fgfr2 35
  • 70.92 (n)
  • 75.84 (a)
Str.1655 35
zebrafish
(Danio rerio)
Actinopterygii fgfr2 35
  • 70.89 (n)
  • 76.65 (a)
fgfr2 36
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003108 35
  • 54.22 (n)
  • 48.54 (a)
fruit fly
(Drosophila melanogaster)
Insecta btl 35
  • 49.26 (n)
  • 42.06 (a)
btl 36
  • 28 (a)
ManyToMany
htl 36
  • 37 (a)
ManyToMany
btl 37
  • 38 (a)
tor 37
  • 45 (a)
htl 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-15 36
  • 25 (a)
OneToMany
F59A3.8 37
  • 34 (a)
old-2 37
  • 36 (a)
ver-4 37
  • 27 (a)
ver-2 37
  • 27 (a)
R151.4 37
  • 37 (a)
R09D1.13 37
  • 31 (a)
kin-16 37
  • 34 (a)
egl-15 37
  • 37 (a)
kin-9 37
  • 36 (a)
F09G2.1 37
  • 32 (a)
F09A5.2 37
  • 30 (a)
C24G6.2a 37
  • 36 (a)
Y38H6C.20 37
  • 31 (a)
old-1 37
  • 34 (a)
R09D1.12 37
  • 31 (a)
W04G5.10 37
  • 34 (a)
Y50D4B.6 37
  • 31 (a)
kin-23 37
  • 33 (a)
C24G6.2b 37
  • 36 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2511 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
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

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 MAF
rs751783 -- 121,578,959(+) ggtgc(A/G)ggctg intron-variant
rs755793 untested, - 121,551,357(-) CCCAA(C/T)GCCAA missense, reference, nc-transcript-variant
rs1047057 -- 121,479,598(-) GCGTA(C/T)TGGCT utr-variant-3-prime, reference, synonymous-codon, nc-transcript-variant, downstream-variant-500B
rs1047058 -- 121,479,599(-) TGCGT(A/T)CTGGC utr-variant-3-prime, reference, synonymous-codon, nc-transcript-variant, downstream-variant-500B
rs1047074 -- 121,518,710(-) TCTGC(A/C)TGGCT intron-variant, synonymous-codon, reference, nc-transcript-variant

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

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

(11) OMIM Diseases for FGFR2 Gene (176943)

UniProtKB/Swiss-Prot

FGFR2_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

(91) Novoseek inferred disease relationships for FGFR2 Gene

Disease -log(P) Hits PubMed IDs
pfeiffer syndrome 94.5 51
apert syndrome 93.5 103
craniosynostosis 93.1 122
crouzon syndrome 91.7 72
jackson-weiss syndrome 86.9 9

Relevant External Links for FGFR2

GeneTests
FGFR2
GeneReviews
FGFR2
Genetic Association Database (GAD)
FGFR2
Human Genome Epidemiology (HuGE) Navigator
FGFR2
Tumor Gene Database (TGDB):
FGFR2
genes like me logo Genes that share disorders with FGFR2: view

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
  2. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. (PMID: 11781872) Kan S.-H. … Wilkie A.O.M. (Am. J. Hum. Genet. 2002) 3 4 23 48
  3. Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. (PMID: 10945669) Priolo M. … Silengo M. (Clin. Genet. 2000) 3 4 23
  4. Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). (PMID: 11173845) Kress W. … Mueller C.R. (Cytogenet. Cell Genet. 2000) 3 4 23
  5. Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. (PMID: 11390973) Ibrahimi O.A. … Mohammadi M. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 23

Products for FGFR2 Gene

  • Addgene plasmids for FGFR2

Sources for FGFR2 Gene

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