Gene: FGFR2

Basic information

Tag Content
Uniprot ID P21802; 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;
Entrez ID 2263
Genbank protein ID AAC41937.1; BAC45037.1; AAK94206.1; AAH39243.2; AAC41936.1; AAD31565.1; CAA37014.1; AAK94208.1; BAA89301.1; AAD14392.1; AAC41933.1; AAA52449.1; AAA68514.1; AAM74056.1; AAA59471.1; AAC41934.1; BAA89297.1; AAD31561.1; CAA76643.1; AAA59472.1; AAK94209.1; AAD31562.1; BAA89300.1; AAA36152.1; AAA36147.1; ABE96832.1; CAA39654.1; AAA61188.1; CAA96492.1; BAA89298.1; BAA89299.1; AAK94205.1; AAD31567.1; AAF43273.1; BAA89296.1; AAC41938.1; AAD31560.1; AAF43274.1; AAC41935.1; AAK94207.1; BAG57383.1; AAA59470.1;
Genbank nucleotide ID NM_001320658.1; NM_023029.2; NM_001144917.1; NM_001144914.1; NM_001144916.1; NM_001144918.1; NM_001320654.1; NM_022970.3; NM_001144919.1; NM_001144915.1; NM_000141.4; NM_001144913.1;
Ensembl protein ID ENSP00000358052; ENSP00000358057; ENSP00000351276; ENSP00000263451; ENSP00000348559; ENSP00000353262; ENSP00000350166; ENSP00000352309; ENSP00000358056; ENSP00000410294;
Ensembl nucleotide ID ENSG00000066468
Gene name Fibroblast growth factor receptor 2
Gene symbol FGFR2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 25704602
Functional description 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.
Sequence
MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 60
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 120
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 180
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 240
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 300
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL 360
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK 420
RIPLRRQVTV SAESSSSMNS NTPLVRITTR LSSTADTPML AGVSEYELPE DPKWEFPRDK 480
LTLGKPLGEG CFGQVVMAEA VGIDKDKPKE AVTVAVKMLK DDATEKDLSD LVSEMEMMKM 540
IGKHKNIINL LGACTQDGPL YVIVEYASKG NLREYLRARR PPGMEYSYDI NRVPEEQMTF 600
KDLVSCTYQL ARGMEYLASQ KCIHRDLAAR NVLVTENNVM KIADFGLARD INNIDYYKKT 660
TNGRLPVKWM APEALFDRVY THQSDVWSFG VLMWEIFTLG GSPYPGIPVE ELFKLLKEGH 720
RMDKPANCTN ELYMMMRDCW HAVPSQRPTF KQLVEDLDRI LTLTTNEEYL DLSQPLEQYS 780
PSYPDTRSSC SSGDDSVFSP DPMPYEPCLP QYPHINGSVK T 821

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologFGFR2102170938A0A452F370Capra hircusPredictionMore>>
1:1 orthologFGFR22263P21802Homo sapiensPublicationMore>>
1:1 orthologFgfr214183P21803CPOE13.5, E14.0, E14.5, E16.0, E16.5Mus musculusPublicationMore>>
1:1 orthologFGFR2A0A2I3S3S0Pan troglodytesPredictionMore>>
1:1 orthologA0A480U9V2Sus scrofaPredictionMore>>
1:1 orthologFGFR2100009417G1SSB0Oryctolagus cuniculusPredictionMore>>
1:1 orthologFgfr225022F1LSG7Rattus norvegicusPredictionMore>>
1:1 orthologfgfr2A4JYI8Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
FGFR2g.123099960G>AGWAS and Sanger sequencing25704602
FGFR2c.212T>C; p.M71TWES and Sanger sequencing26449438

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004713 protein tyrosine kinase activityNAS
GO:0004714 transmembrane receptor protein tyrosine kinase activityIBA
GO:0005007 fibroblast growth factor-activated receptor activityIGI
GO:0005007 fibroblast growth factor-activated receptor activityNAS
GO:0005007 fibroblast growth factor-activated receptor activityIDA
GO:0005007 fibroblast growth factor-activated receptor activityIBA
GO:0005515 protein bindingIPI
GO:0005524 ATP bindingIEA
GO:0008201 heparin bindingIEA
GO:0017134 fibroblast growth factor bindingIBA
GO:0017134 fibroblast growth factor bindingIPI
GO:0017134 fibroblast growth factor bindingIDA
GO:0042803 protein homodimerization activityIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIISS
GO:0000165 MAPK cascadeTAS
GO:0001525 angiogenesisISS
GO:0001657 ureteric bud developmentISS
GO:0001701 in utero embryonic developmentISS
GO:0001837 epithelial to mesenchymal transitionIEA
GO:0002053 positive regulation of mesenchymal cell proliferationISS
GO:0003148 outflow tract septum morphogenesisISS
GO:0003149 membranous septum morphogenesisISS
GO:0003416 endochondral bone growthIEA
GO:0006915 apoptotic processIEA
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathwayIBA
GO:0007267 cell-cell signalingISS
GO:0007275 multicellular organism developmentIBA
GO:0007409 axonogenesisISS
GO:0008284 positive regulation of cell population proliferationIMP
GO:0008284 positive regulation of cell population proliferationIDA
GO:0008284 positive regulation of cell population proliferationIGI
GO:0008543 fibroblast growth factor receptor signaling pathwayIPI
GO:0008543 fibroblast growth factor receptor signaling pathwayIDA
GO:0008543 fibroblast growth factor receptor signaling pathwayIGI
GO:0008543 fibroblast growth factor receptor signaling pathwayTAS
GO:0008589 regulation of smoothened signaling pathwayISS
GO:0009791 post-embryonic developmentISS
GO:0009880 embryonic pattern specificationISS
GO:0009887 animal organ morphogenesisISS
GO:0010518 positive regulation of phospholipase activityIMP
GO:0016331 morphogenesis of embryonic epitheliumISS
GO:0018108 peptidyl-tyrosine phosphorylationIDA
GO:0021769 orbitofrontal cortex developmentISS
GO:0021847 ventricular zone neuroblast divisionISS
GO:0021860 pyramidal neuron developmentISS
GO:0022612 gland morphogenesisISS
GO:0030177 positive regulation of Wnt signaling pathwayISS
GO:0030282 bone mineralizationISS
GO:0030324 lung developmentISS
GO:0030855 epithelial cell differentiationISS
GO:0030901 midbrain developmentISS
GO:0030916 otic vesicle formationISS
GO:0031069 hair follicle morphogenesisISS
GO:0032496 response to lipopolysaccharideIEA
GO:0032808 lacrimal gland developmentISS
GO:0033674 positive regulation of kinase activityIBA
GO:0033688 regulation of osteoblast proliferationTAS
GO:0035265 organ growthISS
GO:0035602 fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cellISS
GO:0035603 fibroblast growth factor receptor signaling pathway involved in hemopoiesisISS
GO:0035604 fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrowISS
GO:0035607 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentISS
GO:0042060 wound healingIEA
GO:0042472 inner ear morphogenesisISS
GO:0042476 odontogenesisISS
GO:0043410 positive regulation of MAPK cascadeIMP
GO:0045165 cell fate commitmentISS
GO:0045471 response to ethanolIEA
GO:0045667 regulation of osteoblast differentiationTAS
GO:0045787 positive regulation of cell cycleISS
GO:0045944 positive regulation of transcription by RNA polymerase IIISS
GO:0046777 protein autophosphorylationIDA
GO:0048286 lung alveolus developmentISS
GO:0048333 mesodermal cell differentiationIEA
GO:0048557 embryonic digestive tract morphogenesisISS
GO:0048562 embryonic organ morphogenesisISS
GO:0048565 digestive tract developmentISS
GO:0048568 embryonic organ developmentISS
GO:0048608 reproductive structure developmentISS
GO:0048661 positive regulation of smooth muscle cell proliferationIEA
GO:0048701 embryonic cranial skeleton morphogenesisIMP
GO:0048705 skeletal system morphogenesisTAS
GO:0048730 epidermis morphogenesisISS
GO:0048755 branching morphogenesis of a nerveISS
GO:0048762 mesenchymal cell differentiationISS
GO:0050679 positive regulation of epithelial cell proliferationISS
GO:0050680 negative regulation of epithelial cell proliferationIEA
GO:0051150 regulation of smooth muscle cell differentiationISS
GO:0051781 positive regulation of cell divisionISS
GO:0051897 positive regulation of protein kinase B signalingTAS
GO:0055010 ventricular cardiac muscle tissue morphogenesisISS
GO:0060045 positive regulation of cardiac muscle cell proliferationISS
GO:0060174 limb bud formationISS
GO:0060348 bone developmentISS
GO:0060349 bone morphogenesisISS
GO:0060442 branching involved in prostate gland morphogenesisISS
GO:0060445 branching involved in salivary gland morphogenesisISS
GO:0060449 bud elongation involved in lung branchingISS
GO:0060463 lung lobe morphogenesisISS
GO:0060484 lung-associated mesenchyme developmentISS
GO:0060501 positive regulation of epithelial cell proliferation involved in lung morphogenesisISS
GO:0060512 prostate gland morphogenesisISS
GO:0060523 prostate epithelial cord elongationISS
GO:0060527 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisISS
GO:0060529 squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentISS
GO:0060595 fibroblast growth factor receptor signaling pathway involved in mammary gland specificationISS
GO:0060601 lateral sprouting from an epitheliumISS
GO:0060615 mammary gland bud formationISS
GO:0060664 epithelial cell proliferation involved in salivary gland morphogenesisISS
GO:0060667 branch elongation involved in salivary gland morphogenesisISS
GO:0060670 branching involved in labyrinthine layer morphogenesisISS
GO:0060688 regulation of morphogenesis of a branching structureISS
GO:0060915 mesenchymal cell differentiation involved in lung developmentISS
GO:0060916 mesenchymal cell proliferation involved in lung developmentISS
GO:0070372 regulation of ERK1 and ERK2 cascadeISS
GO:0070374 positive regulation of ERK1 and ERK2 cascadeISS
GO:0071300 cellular response to retinoic acidIEA
GO:0071560 cellular response to transforming growth factor beta stimulusIEA
GO:0090263 positive regulation of canonical Wnt signaling pathwayISS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIDA
GO:0005737 cytoplasmIDA
GO:0005794 Golgi apparatusIEA
GO:0005886 plasma membraneTAS
GO:0005887 integral component of plasma membraneIDA
GO:0005887 integral component of plasma membraneIBA
GO:0005938 cell cortexIDA
GO:0009986 cell surfaceIDA
GO:0016020 membraneNAS
GO:0016021 integral component of membraneNAS
GO:0031410 cytoplasmic vesicleIEA
GO:0043235 receptor complexIBA
GO:0060076 excitatory synapseISS
GO:0062023 collagen-containing extracellular matrixIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109704 PI3K CascadeTAS
R-HSA-112399 IRS-mediated signallingTAS
R-HSA-1226099 Signaling by FGFR in diseaseTAS
R-HSA-1226099 Signaling by FGFR in diseaseIEA
R-HSA-1257604 PIP3 activates AKT signalingTAS
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-1643685 DiseaseTAS
R-HSA-1643685 DiseaseIEA
R-HSA-168256 Immune SystemTAS
R-HSA-1839126 FGFR2 mutant receptor activationTAS
R-HSA-1839126 FGFR2 mutant receptor activationIEA
R-HSA-190236 Signaling by FGFRTAS
R-HSA-190241 FGFR2 ligand binding and activationTAS
R-HSA-190375 FGFR2c ligand binding and activationTAS
R-HSA-190377 FGFR2b ligand binding and activationTAS
R-HSA-199418 Negative regulation of the PI3K/AKT networkTAS
R-HSA-2023837 Signaling by FGFR2 amplification mutantsTAS
R-HSA-2033519 Activated point mutants of FGFR2TAS
R-HSA-2219528 PI3K/AKT Signaling in CancerTAS
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in CancerTAS
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)TAS
R-HSA-2428924 IGF1R signaling cascadeTAS
R-HSA-2428928 IRS-related events triggered by IGF1RTAS
R-HSA-5654221 Phospholipase C-mediated cascade; FGFR2TAS
R-HSA-5654695 PI-3K cascade:FGFR2TAS
R-HSA-5654696 Downstream signaling of activated FGFR2TAS
R-HSA-5654699 SHC-mediated cascade:FGFR2TAS
R-HSA-5654700 FRS-mediated FGFR2 signalingTAS
R-HSA-5654727 Negative regulation of FGFR2 signalingTAS
R-HSA-5654738 Signaling by FGFR2TAS
R-HSA-5655253 Signaling by FGFR2 in diseaseTAS
R-HSA-5655253 Signaling by FGFR2 in diseaseIEA
R-HSA-5663202 Diseases of signal transductionTAS
R-HSA-5663202 Diseases of signal transductionIEA
R-HSA-5673001 RAF/MAP kinase cascadeTAS
R-HSA-5683057 MAPK family signaling cascadesTAS
R-HSA-5684996 MAPK1/MAPK3 signalingTAS
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingTAS
R-HSA-74751 Insulin receptor signalling cascadeTAS
R-HSA-74752 Signaling by Insulin receptorTAS
R-HSA-8851708 Signaling by FGFR2 IIIa TMIEA
R-HSA-8853333 Signaling by FGFR2 fusionsTAS
R-HSA-9006925 Intracellular signaling by second messengersTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesTAS
R-HSA-9607240 FLT3 SignalingTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0053 Apoptosis
KW-0067 ATP-binding
KW-1003 Cell membrane
KW-0989 Craniosynostosis
KW-0968 Cytoplasmic vesicle
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0038 Ectodermal dysplasia
KW-0325 Glycoprotein
KW-0333 Golgi apparatus
KW-0358 Heparin-binding
KW-0393 Immunoglobulin domain
KW-0418 Kinase
KW-0953 Lacrimo-auriculo-dento-digital syndrome
KW-0472 Membrane
KW-0991 Mental retardation
KW-0547 Nucleotide-binding
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-0656 Proto-oncogene
KW-0675 Receptor
KW-1185 Reference proteome
KW-0677 Repeat
KW-0964 Secreted
KW-0732 Signal
KW-0808 Transferase
KW-0812 Transmembrane
KW-1133 Transmembrane helix
KW-0829 Tyrosine-protein kinase
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR016248 FGF_rcpt_fam
IPR041159 FGFR_TM
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR008266 Tyr_kinase_AS
IPR020635 Tyr_kinase_cat_dom

PROSITE

PROSITE ID PROSITE Term
PS50835 IG_LIKE
PS00107 PROTEIN_KINASE_ATP
PS50011 PROTEIN_KINASE_DOM
PS00109 PROTEIN_KINASE_TYR

Pfam

Pfam ID Pfam Term
PF18123 FGFR3_TM
PF07679 I-set
PF07714 Pkinase_Tyr

Protein-protein interaction

Protein-miRNA interaction