UniProtKB - P21802 (FGFR2_HUMAN)
Fibroblast growth factor receptor 2
FGFR2
Functioni
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.
13 PublicationsCatalytic activityi
- ATP + L-tyrosyl-[protein] = ADP + H+ + O-phospho-L-tyrosyl-[protein]PROSITE-ProRule annotation4 PublicationsEC:2.7.10.1PROSITE-ProRule annotation4 Publications
Activity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 517 | ATPPROSITE-ProRule annotation1 Publication | 1 | |
Binding sitei | 571 | ATPPROSITE-ProRule annotation1 Publication | 1 | |
Active sitei | 626 | Proton acceptorPROSITE-ProRule annotation1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 487 – 495 | ATPPROSITE-ProRule annotation1 Publication | 9 | |
Nucleotide bindingi | 565 – 567 | ATPPROSITE-ProRule annotation1 Publication | 3 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- fibroblast growth factor-activated receptor activity Source: UniProtKB
- fibroblast growth factor binding Source: UniProtKB
- heparin binding Source: UniProtKB-KW
- identical protein binding Source: IntAct
- protein homodimerization activity Source: UniProtKB
- protein serine/threonine/tyrosine kinase activity Source: RHEA
- protein tyrosine kinase activity Source: UniProtKB
- transmembrane receptor protein tyrosine kinase activity Source: GO_Central
GO - Biological processi
- angiogenesis Source: UniProtKB
- animal organ morphogenesis Source: UniProtKB
- apoptotic process Source: UniProtKB-KW
- axonogenesis Source: UniProtKB
- bone development Source: UniProtKB
- bone mineralization Source: UniProtKB
- bone morphogenesis Source: UniProtKB
- branch elongation involved in salivary gland morphogenesis Source: UniProtKB
- branching involved in labyrinthine layer morphogenesis Source: UniProtKB
- branching involved in prostate gland morphogenesis Source: UniProtKB
- branching involved in salivary gland morphogenesis Source: UniProtKB
- branching morphogenesis of a nerve Source: UniProtKB
- bud elongation involved in lung branching Source: UniProtKB
- cell-cell signaling Source: UniProtKB
- cell fate commitment Source: UniProtKB
- cellular response to retinoic acid Source: Ensembl
- cellular response to transforming growth factor beta stimulus Source: Ensembl
- digestive tract development Source: UniProtKB
- embryonic cranial skeleton morphogenesis Source: BHF-UCL
- embryonic digestive tract morphogenesis Source: UniProtKB
- embryonic organ development Source: UniProtKB
- embryonic organ morphogenesis Source: UniProtKB
- embryonic pattern specification Source: UniProtKB
- endochondral bone growth Source: Ensembl
- epidermis morphogenesis Source: UniProtKB
- epithelial cell differentiation Source: UniProtKB
- epithelial cell proliferation involved in salivary gland morphogenesis Source: UniProtKB
- epithelial to mesenchymal transition Source: Ensembl
- fibroblast growth factor receptor signaling pathway Source: UniProtKB
- fibroblast growth factor receptor signaling pathway involved in hemopoiesis Source: UniProtKB
- fibroblast growth factor receptor signaling pathway involved in mammary gland specification Source: UniProtKB
- fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell Source: UniProtKB
- fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development Source: UniProtKB
- fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow Source: UniProtKB
- gland morphogenesis Source: UniProtKB
- hair follicle morphogenesis Source: UniProtKB
- inner ear morphogenesis Source: UniProtKB
- in utero embryonic development Source: UniProtKB
- lacrimal gland development Source: UniProtKB
- lateral sprouting from an epithelium Source: UniProtKB
- limb bud formation Source: UniProtKB
- lung alveolus development Source: UniProtKB
- lung-associated mesenchyme development Source: UniProtKB
- lung development Source: UniProtKB
- lung lobe morphogenesis Source: UniProtKB
- mammary gland bud formation Source: UniProtKB
- membranous septum morphogenesis Source: UniProtKB
- mesenchymal cell differentiation Source: UniProtKB
- mesenchymal cell differentiation involved in lung development Source: UniProtKB
- mesenchymal cell proliferation involved in lung development Source: UniProtKB
- mesodermal cell differentiation Source: Ensembl
- midbrain development Source: UniProtKB
- morphogenesis of embryonic epithelium Source: UniProtKB
- negative regulation of keratinocyte proliferation Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- odontogenesis Source: UniProtKB
- orbitofrontal cortex development Source: UniProtKB
- organ growth Source: UniProtKB
- otic vesicle formation Source: UniProtKB
- outflow tract septum morphogenesis Source: UniProtKB
- peptidyl-tyrosine phosphorylation Source: UniProtKB
- positive regulation of canonical Wnt signaling pathway Source: UniProtKB
- positive regulation of cardiac muscle cell proliferation Source: UniProtKB
- positive regulation of cell cycle Source: UniProtKB
- positive regulation of cell division Source: UniProtKB
- positive regulation of cell population proliferation Source: UniProtKB
- positive regulation of epithelial cell proliferation Source: UniProtKB
- positive regulation of epithelial cell proliferation involved in lung morphogenesis Source: UniProtKB
- positive regulation of ERK1 and ERK2 cascade Source: UniProtKB
- positive regulation of kinase activity Source: GO_Central
- positive regulation of MAPK cascade Source: UniProtKB
- positive regulation of mesenchymal cell proliferation Source: UniProtKB
- positive regulation of phospholipase activity Source: UniProtKB
- positive regulation of smooth muscle cell proliferation Source: Ensembl
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- positive regulation of Wnt signaling pathway Source: UniProtKB
- post-embryonic development Source: UniProtKB
- prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis Source: UniProtKB
- prostate epithelial cord elongation Source: UniProtKB
- prostate gland morphogenesis Source: UniProtKB
- protein autophosphorylation Source: UniProtKB
- pyramidal neuron development Source: UniProtKB
- regulation of ERK1 and ERK2 cascade Source: UniProtKB
- regulation of morphogenesis of a branching structure Source: UniProtKB
- regulation of osteoblast differentiation Source: UniProtKB
- regulation of osteoblast proliferation Source: UniProtKB
- regulation of smoothened signaling pathway Source: UniProtKB
- regulation of smooth muscle cell differentiation Source: UniProtKB
- reproductive structure development Source: UniProtKB
- response to ethanol Source: Ensembl
- response to lipopolysaccharide Source: Ensembl
- skeletal system morphogenesis Source: UniProtKB
- squamous basal epithelial stem cell differentiation involved in prostate gland acinus development Source: UniProtKB
- transmembrane receptor protein tyrosine kinase signaling pathway Source: GO_Central
- ureteric bud development Source: UniProtKB
- ventricular cardiac muscle tissue morphogenesis Source: UniProtKB
- ventricular zone neuroblast division Source: UniProtKB
- wound healing Source: Ensembl
Keywordsi
Molecular function | Heparin-binding, Kinase, Receptor, Transferase, Tyrosine-protein kinase |
Biological process | Apoptosis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 2.7.10.1, 2681 |
PathwayCommonsi | P21802 |
Reactomei | R-HSA-109704, PI3K Cascade R-HSA-1257604, PIP3 activates AKT signaling R-HSA-190375, FGFR2c ligand binding and activation R-HSA-190377, FGFR2b ligand binding and activation R-HSA-2023837, Signaling by FGFR2 amplification mutants R-HSA-2033519, Activated point mutants of FGFR2 R-HSA-2219530, Constitutive Signaling by Aberrant PI3K in Cancer R-HSA-5654221, Phospholipase C-mediated cascade, FGFR2 R-HSA-5654695, PI-3K cascade:FGFR2 R-HSA-5654699, SHC-mediated cascade:FGFR2 R-HSA-5654700, FRS-mediated FGFR2 signaling R-HSA-5654727, Negative regulation of FGFR2 signaling R-HSA-5655253, Signaling by FGFR2 in disease R-HSA-5673001, RAF/MAP kinase cascade R-HSA-6811558, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling R-HSA-8851708, Signaling by FGFR2 IIIa TM R-HSA-8853333, Signaling by FGFR2 fusions |
SignaLinki | P21802 |
SIGNORi | P21802 |
Names & Taxonomyi
Protein namesi | Recommended name: Fibroblast growth factor receptor 2 (EC:2.7.10.14 Publications)Short name: FGFR-2 Alternative name(s): K-sam Short name: KGFR Keratinocyte growth factor receptor CD_antigen: CD332 |
Gene namesi | Name:FGFR2 Synonyms:BEK, KGFR, KSAM |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3689, FGFR2 |
MIMi | 176943, gene |
neXtProti | NX_P21802 |
VEuPathDBi | HostDB:ENSG00000066468 |
Subcellular locationi
Golgi apparatus
Plasma membrane
Other locations
Note: Detected on osteoblast plasma membrane lipid rafts. After ligand binding, the activated receptor is rapidly internalized and degraded.
Plasma membrane
Note: After ligand binding, the activated receptor is rapidly internalized and degraded.
Plasma membrane
Note: After ligand binding, the activated receptor is rapidly internalized and degraded.
Extracellular region or secreted
Extracellular region or secreted
Extracellular region or secreted
- extracellular region Source: UniProtKB-SubCell
Golgi apparatus
- Golgi apparatus Source: UniProtKB-SubCell
Nucleus
- nucleus Source: UniProtKB
Plasma Membrane
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: Reactome
Other locations
- cell cortex Source: UniProtKB
- cell surface Source: UniProtKB
- cytoplasm Source: UniProtKB
- cytoplasmic vesicle Source: UniProtKB-KW
- excitatory synapse Source: UniProtKB
- integral component of membrane Source: UniProtKB
- membrane Source: UniProtKB
- receptor complex Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 22 – 377 | ExtracellularSequence analysisAdd BLAST | 356 | |
Transmembranei | 378 – 398 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 399 – 821 | CytoplasmicSequence analysisAdd BLAST | 423 |
Keywords - Cellular componenti
Cell membrane, Cytoplasmic vesicle, Golgi apparatus, Membrane, SecretedPathology & Biotechi
Involvement in diseasei
Crouzon syndrome (CS)17 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004112 | 105 | Y → C in CS. 2 PublicationsCorresponds to variant dbSNP:rs1434545235EnsemblClinVar. | 1 | |
Natural variantiVAR_017261 | 263 | P → L in CS. 1 PublicationCorresponds to variant dbSNP:rs779326224EnsemblClinVar. | 1 | |
Natural variantiVAR_004118 | 267 | S → P in CS. 1 PublicationCorresponds to variant dbSNP:rs121918505EnsemblClinVar. | 1 | |
Natural variantiVAR_004119 | 268 | T → TG in CS. 1 Publication | 1 | |
Natural variantiVAR_004120 | 276 | F → V in CS. 3 PublicationsCorresponds to variant dbSNP:rs1057519036EnsemblClinVar. | 1 | |
Natural variantiVAR_004121 | 278 | C → F in CS, JWS and PS; forms disulfide-linked dimers with constitutive kinase activity, is retained in an intracellular compartment and not detected at the cell surface. 5 PublicationsCorresponds to variant dbSNP:rs776587763EnsemblClinVar. | 1 | |
Natural variantiVAR_017263 | 278 | C → Y in CS. 1 PublicationCorresponds to variant dbSNP:rs776587763EnsemblClinVar. | 1 | |
Natural variantiVAR_017264 | 281 | Y → C in CS. 2 PublicationsCorresponds to variant dbSNP:rs1057519038EnsemblClinVar. | 1 | |
Natural variantiVAR_004122 | 287 – 289 | Missing in CS. | 3 | |
Natural variantiVAR_017265 | 288 | I → S in CS. 1 Publication | 1 | |
Natural variantiVAR_004123 | 289 | Q → P in CS and JWS. 5 PublicationsCorresponds to variant dbSNP:rs121918497EnsemblClinVar. | 1 | |
Natural variantiVAR_017266 | 290 | W → G in CS. 1 PublicationCorresponds to variant dbSNP:rs121918501EnsemblClinVar. | 1 | |
Natural variantiVAR_004125 | 290 | W → R in CS. Corresponds to variant dbSNP:rs121918501EnsemblClinVar. | 1 | |
Natural variantiVAR_004126 | 292 | K → E in CS. 1 PublicationCorresponds to variant dbSNP:rs121918500EnsemblClinVar. | 1 | |
Natural variantiVAR_004127 | 301 | Y → C in CS. 1 PublicationCorresponds to variant dbSNP:rs1554930684EnsemblClinVar. | 1 | |
Natural variantiVAR_004130 | 328 | Y → C in CS. 1 PublicationCorresponds to variant dbSNP:rs121918493EnsemblClinVar. | 1 | |
Natural variantiVAR_004131 | 331 | N → I in CS. 1 Publication | 1 | |
Natural variantiVAR_004132 | 337 | A → ANA in CS. | 1 | |
Natural variantiVAR_017268 | 337 | A → P in CS. 1 PublicationCorresponds to variant dbSNP:rs387906676EnsemblClinVar. | 1 | |
Natural variantiVAR_004133 | 338 | G → E in CS. 1 PublicationCorresponds to variant dbSNP:rs1057519044EnsemblClinVar. | 1 | |
Natural variantiVAR_015011 | 338 | G → R in CS. 3 PublicationsCorresponds to variant dbSNP:rs1057519043EnsemblClinVar. | 1 | |
Natural variantiVAR_004134 | 340 | Y → H in CS. 2 PublicationsCorresponds to variant dbSNP:rs121918489EnsemblClinVar. | 1 | |
Natural variantiVAR_004135 | 341 | T → P in PS and CS. 3 PublicationsCorresponds to variant dbSNP:rs121918495EnsemblClinVar. | 1 | |
Natural variantiVAR_004136 | 342 | C → F in CS. 3 PublicationsCorresponds to variant dbSNP:rs121918487EnsemblClinVar. | 1 | |
Natural variantiVAR_004137 | 342 | C → R in CS, JWS, PS and ABS2. 9 PublicationsCorresponds to variant dbSNP:rs121918488EnsemblClinVar. | 1 | |
Natural variantiVAR_004138 | 342 | C → S in CS, JWS, PS and ABS2. 8 PublicationsCorresponds to variant dbSNP:rs121918488EnsemblClinVar. | 1 | |
Natural variantiVAR_017271 | 342 | C → W in CS. 3 PublicationsCorresponds to variant dbSNP:rs121918496EnsemblClinVar. | 1 | |
Natural variantiVAR_004139 | 342 | C → Y in CS and PS. 8 PublicationsCorresponds to variant dbSNP:rs121918487EnsemblClinVar. | 1 | |
Natural variantiVAR_004140 | 344 | A → G in CS and JWS. 2 PublicationsCorresponds to variant dbSNP:rs121918492EnsemblClinVar. | 1 | |
Natural variantiVAR_004141 | 344 | A → P in CS and PS. 1 Publication | 1 | |
Natural variantiVAR_004142 | 347 | S → C in CS. 2 PublicationsCorresponds to variant dbSNP:rs121918494EnsemblClinVar. | 1 | |
Natural variantiVAR_004143 | 351 | S → C in CS, PS and ABS2. 3 PublicationsCorresponds to variant dbSNP:rs121918502EnsemblClinVar. | 1 | |
Natural variantiVAR_004144 | 354 | S → C in CS. 5 PublicationsCorresponds to variant dbSNP:rs121918490EnsemblClinVar. | 1 | |
Natural variantiVAR_017272 | 354 | S → Y in CS. 1 Publication | 1 | |
Natural variantiVAR_004145 | 356 – 358 | Missing in CS. 1 Publication | 3 | |
Natural variantiVAR_004146 | 359 | V → F in CS and PS. 2 Publications | 1 | |
Natural variantiVAR_017273 | 362 | A → S in CS. 1 Publication | 1 | |
Natural variantiVAR_004147 | 384 | G → R in CS. 1 PublicationCorresponds to variant dbSNP:rs1554927408EnsemblClinVar. | 1 | |
Natural variantiVAR_017276 | 549 | N → H in CS; constitutive kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs1057519045EnsemblClinVar. | 1 | |
Natural variantiVAR_017281 | 678 | R → G in CS. 1 Publication | 1 |
Jackson-Weiss syndrome (JWS)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004123 | 289 | Q → P in CS and JWS. 5 PublicationsCorresponds to variant dbSNP:rs121918497EnsemblClinVar. | 1 | |
Natural variantiVAR_004140 | 344 | A → G in CS and JWS. 2 PublicationsCorresponds to variant dbSNP:rs121918492EnsemblClinVar. | 1 |
Apert syndrome (APRS)8 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004114 | 252 | S → F in APRS; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs121918498EnsemblClinVar. | 1 | |
Natural variantiVAR_004115 | 252 | S → W in APRS and PS; common mutation. 7 PublicationsCorresponds to variant dbSNP:rs79184941EnsemblClinVar. | 1 | |
Natural variantiVAR_004117 | 253 | P → R in APRS; common mutation. 5 PublicationsCorresponds to variant dbSNP:rs77543610EnsemblClinVar. | 1 |
Pfeiffer syndrome (PS)13 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017259 | 172 | A → F in PS; requires 2 nucleotide substitutions. 1 Publication | 1 | |
Natural variantiVAR_004116 | 252 – 253 | SP → FS in PS. Corresponds to variant dbSNP:rs281865420Ensembl. | 2 | |
Natural variantiVAR_004115 | 252 | S → W in APRS and PS; common mutation. 7 PublicationsCorresponds to variant dbSNP:rs79184941EnsemblClinVar. | 1 | |
Natural variantiVAR_017262 | 273 | Missing in PS; type 2. 1 PublicationCorresponds to variant dbSNP:rs121918503Ensembl. | 1 | |
Natural variantiVAR_004121 | 278 | C → F in CS, JWS and PS; forms disulfide-linked dimers with constitutive kinase activity, is retained in an intracellular compartment and not detected at the cell surface. 5 PublicationsCorresponds to variant dbSNP:rs776587763EnsemblClinVar. | 1 | |
Natural variantiVAR_004124 | 290 | W → C in PS; severe; also in a lung squamous cell carcinoma sample; somatic mutation. 3 PublicationsCorresponds to variant dbSNP:rs121918499EnsemblClinVar. | 1 | |
Natural variantiVAR_004129 | 321 | D → A in PS. 1 PublicationCorresponds to variant dbSNP:rs121918510EnsemblClinVar. | 1 | |
Natural variantiVAR_017269 | 340 | Y → C in PS. 2 PublicationsCorresponds to variant dbSNP:rs1554928884EnsemblClinVar. | 1 | |
Natural variantiVAR_004135 | 341 | T → P in PS and CS. 3 PublicationsCorresponds to variant dbSNP:rs121918495EnsemblClinVar. | 1 | |
Natural variantiVAR_017270 | 342 | C → G in PS. 1 PublicationCorresponds to variant dbSNP:rs121918488EnsemblClinVar. | 1 | |
Natural variantiVAR_004139 | 342 | C → Y in CS and PS. 8 PublicationsCorresponds to variant dbSNP:rs121918487EnsemblClinVar. | 1 | |
Natural variantiVAR_004141 | 344 | A → P in CS and PS. 1 Publication | 1 | |
Natural variantiVAR_004146 | 359 | V → F in CS and PS. 2 Publications | 1 | |
Natural variantiVAR_017275 | 375 | Y → C in PS and BSTVS. 3 PublicationsCorresponds to variant dbSNP:rs121913478EnsemblClinVar. | 1 | |
Natural variantiVAR_017277 | 565 | E → G in PS; constitutive kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs121918506EnsemblClinVar. | 1 | |
Natural variantiVAR_017278 | 641 | K → R in PS; constitutive kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs1057519047EnsemblClinVar. | 1 | |
Natural variantiVAR_017280 | 663 | G → E in PS. 1 Publication | 1 |
Beare-Stevenson cutis gyrata syndrome (BSTVS)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017274 | 372 | S → C in BSTVS. 1 PublicationCorresponds to variant dbSNP:rs121913477EnsemblClinVar. | 1 | |
Natural variantiVAR_017275 | 375 | Y → C in PS and BSTVS. 3 PublicationsCorresponds to variant dbSNP:rs121913478EnsemblClinVar. | 1 |
Familial scaphocephaly syndrome (FSPC)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023788 | 526 | K → E in FSPC; constitutive kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs121918507EnsemblClinVar. | 1 |
Lacrimo-auriculo-dento-digital syndrome (LADDS)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029884 | 628 | A → T in LADDS; strongly reduced kinase activity. 1 PublicationCorresponds to variant dbSNP:rs121918509EnsemblClinVar. | 1 | |
Natural variantiVAR_029885 | 648 | A → T in LADDS. 1 PublicationCorresponds to variant dbSNP:rs121918508EnsemblClinVar. | 1 | |
Natural variantiVAR_029886 | 649 – 650 | RD → S in LADDS. 1 Publication | 2 |
Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004137 | 342 | C → R in CS, JWS, PS and ABS2. 9 PublicationsCorresponds to variant dbSNP:rs121918488EnsemblClinVar. | 1 | |
Natural variantiVAR_004138 | 342 | C → S in CS, JWS, PS and ABS2. 8 PublicationsCorresponds to variant dbSNP:rs121918488EnsemblClinVar. | 1 | |
Natural variantiVAR_004143 | 351 | S → C in CS, PS and ABS2. 3 PublicationsCorresponds to variant dbSNP:rs121918502EnsemblClinVar. | 1 |
Bent bone dysplasia syndrome (BBDS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067977 | 381 | Y → D in BBDS. 1 PublicationCorresponds to variant dbSNP:rs387906678EnsemblClinVar. | 1 | |
Natural variantiVAR_067978 | 391 | M → R in BBDS; the mutation selectively reduces plasma-membrane levels of the protein and markedly diminishes the receptor's responsiveness to extracellular FGF. 1 PublicationCorresponds to variant dbSNP:rs387906677EnsemblClinVar. | 1 |
Saethre-Chotzen syndrome (SCS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075856 | 269 – 270 | Missing in SCS. 1 Publication | 2 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 265 | N → Q: Reduced N-glycosylation. Reduced expression at the cell surface. 1 Publication | 1 | |
Mutagenesisi | 549 | N → T: Constitutive kinase activity. 1 Publication | 1 | |
Mutagenesisi | 565 | E → A: Constitutive kinase activity. 1 Publication | 1 | |
Mutagenesisi | 656 – 657 | Missing : Loss of kinase activity. 1 Publication | 2 | |
Mutagenesisi | 769 | Y → F: Increases fibroblast proliferation. Decreases phosphorylation of PLCG1 and FRS2. Decreases activation of MAP kinases. 2 Publications | 1 |
Keywords - Diseasei
Craniosynostosis, Disease variant, Ectodermal dysplasia, Lacrimo-auriculo-dento-digital syndrome, Mental retardation, Proto-oncogeneOrganism-specific databases
DisGeNETi | 2263 |
GeneReviewsi | FGFR2 |
MalaCardsi | FGFR2 |
MIMi | 101200, phenotype 101400, phenotype 101600, phenotype 123150, phenotype 123500, phenotype 123790, phenotype 149730, phenotype 207410, phenotype 609579, phenotype 614592, phenotype |
OpenTargetsi | ENSG00000066468 |
Orphaneti | 83, Antley-Bixler syndrome 596008, Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis 87, Apert syndrome 207, Crouzon disease 1555, Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome 168624, Familial scaphocephaly syndrome, McGillivray type 313855, FGFR2-related bent bone dysplasia 1540, Jackson-Weiss syndrome 2363, Lacrimoauriculodentodigital syndrome 93258, Pfeiffer syndrome type 1 93259, Pfeiffer syndrome type 2 93260, Pfeiffer syndrome type 3 794, Saethre-Chotzen syndrome |
PharmGKBi | PA28128 |
Miscellaneous databases
Pharosi | P21802, Tclin |
Chemistry databases
ChEMBLi | CHEMBL4142 |
DrugBanki | DB02058, 3-[4-(1-formylpiperazin-4-yl)-benzylidenyl]-2-indolinone DB02491, 4-[4-(1-Amino-1-Methylethyl)Phenyl]-5-Chloro-N-[4-(2-Morpholin-4-Ylethyl)Phenyl]Pyrimidin-2-Amine DB12147, Erdafitinib DB10770, Foreskin fibroblast (neonatal) DB10772, Foreskin keratinocyte (neonatal) DB12010, Fostamatinib DB01109, Heparin DB09078, Lenvatinib DB09079, Nintedanib DB00039, Palifermin DB15102, Pemigatinib DB08901, Ponatinib DB15822, Pralsetinib DB08896, Regorafenib DB15685, Selpercatinib DB01901, Sucrosofate DB01041, Thalidomide |
DrugCentrali | P21802 |
GuidetoPHARMACOLOGYi | 1809 |
Genetic variation databases
BioMutai | FGFR2 |
DMDMi | 120049 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | Sequence analysisAdd BLAST | 21 | |
ChainiPRO_0000016783 | 22 – 821 | Fibroblast growth factor receptor 2Add BLAST | 800 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 62 ↔ 107 | PROSITE-ProRule annotation | ||
Glycosylationi | 83 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 123 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 179 ↔ 231 | PROSITE-ProRule annotation1 Publication | ||
Glycosylationi | 228 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 241 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 265 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 278 ↔ 342 | PROSITE-ProRule annotation1 Publication | ||
Glycosylationi | 297 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 318 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 331 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 466 | Phosphotyrosine; by autocatalysis2 Publications | 1 | |
Modified residuei | 586 | Phosphotyrosine; by autocatalysis3 Publications | 1 | |
Modified residuei | 588 | Phosphotyrosine; by autocatalysis2 Publications | 1 | |
Modified residuei | 656 | Phosphotyrosine; by autocatalysis3 Publications | 1 | |
Modified residuei | 657 | Phosphotyrosine; by autocatalysis3 Publications | 1 | |
Modified residuei | 769 | Phosphotyrosine; by autocatalysis2 Publications | 1 | |
Modified residuei | 780 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugationProteomic databases
jPOSTi | P21802 |
MassIVEi | P21802 |
MaxQBi | P21802 |
PaxDbi | P21802 |
PeptideAtlasi | P21802 |
PRIDEi | P21802 |
ProteomicsDBi | 53905 [P21802-1] 53910 [P21802-14] 53911 [P21802-15] 53912 [P21802-16] 53913 [P21802-17] 53914 [P21802-18] 53915 [P21802-19] 53916 [P21802-2] 53917 [P21802-20] 53918 [P21802-21] 53919 [P21802-22] 53920 [P21802-23] 53921 [P21802-3] 53922 [P21802-4] 53923 [P21802-5] 53924 [P21802-6] 53926 [P21802-8] |
TopDownProteomicsi | P21802-8 [P21802-8] |
PTM databases
GlyConnecti | 1997, 1 N-Linked glycan (1 site) |
GlyGeni | P21802, 9 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site) |
iPTMneti | P21802 |
PhosphoSitePlusi | P21802 |
Expressioni
Gene expression databases
Bgeei | ENSG00000066468, Expressed in C1 segment of cervical spinal cord and 236 other tissues |
ExpressionAtlasi | P21802, baseline and differential |
Genevisiblei | P21802, HS |
Organism-specific databases
HPAi | ENSG00000066468, Tissue enhanced (brain, choroid plexus) |
Interactioni
Subunit structurei
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).
By similarity21 PublicationsBinary interactionsi
P21802
FGFR2 - isoform 1 [P21802-1]
With | #Exp. | IntAct |
---|---|---|
FGF1 - isoform 1 [P05230-1] | 2 | EBI-15489960,EBI-15489950 |
FGF2 [P09038] | 2 | EBI-15489960,EBI-977447 |
itself | 3 | EBI-15489960,EBI-15489960 |
PLCG1 [P19174] | 9 | EBI-15489960,EBI-79387 |
Isoform 3 [P21802-3]
With | #Exp. | IntAct |
---|---|---|
FGF7 [P21781] | 2 | EBI-6354683,EBI-3937699 |
FGF1 [P03968] from Bos taurus. | 2 | EBI-6354683,EBI-6358090 |
GO - Molecular functioni
- fibroblast growth factor binding Source: UniProtKB
- identical protein binding Source: IntAct
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 108554, 116 interactors |
CORUMi | P21802 |
DIPi | DIP-3788N |
IntActi | P21802, 89 interactors |
MINTi | P21802 |
STRINGi | 9606.ENSP00000410294 |
Chemistry databases
BindingDBi | P21802 |
Miscellaneous databases
RNActi | P21802, protein |