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Details on Person UniProt:P21802-1 FGFR2

Class:IdReferenceIsoform:54816
_chainChangeLogsignal peptide:1-21 added on Sat February 7 2015;chain:22-821 added on Sat February 7 2015
_displayNameUniProt:P21802-1 FGFR2
_timestamp2025-02-21 19:06:39
chainsignal peptide:1-21
chain:22-821
checksum6CD5001C960ED82F
commentFUNCTION Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1.CATALYTIC ACTIVITY L-tyrosyl-[protein] + ATP = O-phospho-L-tyrosyl-[protein] + ADP + H(+)ACTIVITY REGULATION Present in an inactive conformation in the absence of bound ligand. Ligand binding leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by ARQ 523 and ARQ 069; these compounds maintain the kinase in an inactive conformation and inhibit autophosphorylation.SUBUNIT Monomer. Homodimer after ligand binding. Interacts predominantly with FGF1 and FGF2, but can also interact with FGF3, FGF4, FGF6, FGF7, FGF8, FGF9, FGF10, FGF17, FGF18 and FGF22 (in vitro). Ligand specificity is determined by tissue-specific expression of isoforms, and differences in the third Ig-like domain are crucial for ligand specificity. Isoform 1 has high affinity for FGF1 and FGF2, but low affinity for FGF7. Isoform 3 has high affinity for FGF1 and FGF7, and has much higher affinity for FGF7 than isoform 1 (in vitro). Affinity for fibroblast growth factors (FGFs) is increased by heparan sulfate glycosaminoglycans that function as coreceptors. Likewise, KLB increases the affinity for FGF19 and FGF21. Interacts with PLCG1, GRB2 and PAK4. Interacts with FLRT2 (By similarity).INTERACTION Detected on osteoblast plasma membrane lipid rafts. After ligand binding, the activated receptor is rapidly internalized and degraded.SUBCELLULAR LOCATION After ligand binding, the activated receptor is rapidly internalized and degraded.SUBCELLULAR LOCATION After ligand binding, the activated receptor is rapidly internalized and degraded.SUBCELLULAR LOCATION 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.PTM 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.PTM N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.PTM Ubiquitinated. FGFR2 is rapidly ubiquitinated after autophosphorylation, leading to internalization and degradation. Subject to degradation both in lysosomes and by the proteasome.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.SEQUENCE CAUTION Contaminating sequence. Somatic variant that appeared in a cancer cell line as a result of genome instability.SEQUENCE CAUTION Contaminating sequence. Somatic variant that appeared in a cancer cell line as a result of genome instability.SEQUENCE CAUTION Contaminating sequence. Somatic variant that appeared in a cancer cell line as a result of genome instability.SEQUENCE CAUTION Contaminating sequence. Somatic variant that appeared in a cancer cell line as a result of genome instability.SEQUENCE CAUTION Contaminating sequence. Somatic variant that appeared in a cancer cell line as a result of genome instability.SEQUENCE CAUTION Contaminating sequence. Somatic variant that appeared in a cancer cell line as a result of genome instability.SEQUENCE CAUTION Extended N-terminus.
descriptionrecommendedName: Fibroblast growth factor receptor 2 shortName: FGFR-2 ecNumber evidence="31 37 42 43"2.7.10.1 alternativeName: K-sam shortName: KGFR alternativeName: Keratinocyte growth factor receptor cdAntigenNameCD332/cdAntigenName
geneNameFGFR2
BEK
KGFR
KSAM
identifierP21802
isoformParent
isSequenceChangedFALSE
keyword3D-structure
Alternative splicing
Apoptosis
ATP-binding
Cell membrane
Craniosynostosis
Cytoplasmic vesicle
Disease variant
Disulfide bond
Ectodermal dysplasia
Glycoprotein
Golgi apparatus
Heparin-binding
Immunoglobulin domain
Intellectual disability
Kinase
Lacrimo-auriculo-dento-digital syndrome
Membrane
Nucleotide-binding
Phosphoprotein
Proteomics identification
Proto-oncogene
Receptor
Reference proteome
Repeat
Secreted
Signal
Transferase
Transmembrane
Transmembrane helix
Tyrosine-protein kinase
Ubl conjugation
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9862192] Weiser, Joel, 2024-02-26
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
nameFGFR2
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:2023822] ENSEMBL:ENSG00000066468 FGFR2 [Homo sapiens]
secondaryIdentifierFGFR2_HUMAN
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
sequenceLength821
species[Species:48887] Homo sapiens
variantIdentifierP21802-1
(referenceEntity)[EntityWithAccessionedSequence:189920] FGFR2c long [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:190416] p-8Y-FGFR2c long [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:1637888] FGFR2c A314D [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:1637889] FGFR2c A315T [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:1637916] FGFR2c P253R [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:2011852] FGFR2c S252W [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:2011879] p-8Y-FGFR2c S252W [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:2011880] p-8Y-FGFR2c P253R [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:2029861] p-8Y-FGFR2c Y375C [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:2029862] p-8Y-FGFR2c W290G [plasma membrane] [Homo sapiens]
List all 20 refering instances
(referenceSequence)[ModifiedResidue:190414] O4'-phospho-L-tyrosine at unknown position
[ModifiedResidue:1307864] O4'-phospho-L-tyrosine at 466
[ModifiedResidue:1307872] O4'-phospho-L-tyrosine at 586
[ModifiedResidue:1307873] O4'-phospho-L-tyrosine at 588
[ModifiedResidue:1307882] O4'-phospho-L-tyrosine at 656
[ModifiedResidue:1307883] O4'-phospho-L-tyrosine at 657
[ModifiedResidue:1307889] O4'-phospho-L-tyrosine at 733
[ModifiedResidue:1307900] O4'-phospho-L-tyrosine at 769
[ModifiedResidue:1307907] O4'-phospho-L-tyrosine at 779
[ReplacedResidue:2029818] L-serine 372 replaced with L-cysteine
List all 15 refering instances
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No pathways have been reviewed or authored by UniProt:P21802-1 FGFR2 (54816)