FGFR2
Fibroblast growth factor receptor 2
Also known as: BEK, CD332, CEK3, CFD1, ECT1, FGFR2_HUMAN, JWS, K-SAM, KGFR, TK14, TK25
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P21802
- Gene
- FGFR2
- Ensembl
- ENSG00000066468
- Chromosome
- 10
- Canonical length
- 821 aa
- Protein class
- Cancer-related genes, CD markers, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Predicted secreted proteins, RAS pathway related proteins
- Subcellular location
- Nucleoplasm,Vesicles,Cell Junctions
- Secretome location
- Secreted - unknown location
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
821 residues, UniProt reviewed canonical sequence.
>P21802|FGFR2
1 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
61 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
121 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
181 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
241 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
301 YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL
361 PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
421 RIPLRRQVTV SAESSSSMNS NTPLVRITTR LSSTADTPML AGVSEYELPE DPKWEFPRDK
481 LTLGKPLGEG CFGQVVMAEA VGIDKDKPKE AVTVAVKMLK DDATEKDLSD LVSEMEMMKM
541 IGKHKNIINL LGACTQDGPL YVIVEYASKG NLREYLRARR PPGMEYSYDI NRVPEEQMTF
601 KDLVSCTYQL ARGMEYLASQ KCIHRDLAAR NVLVTENNVM KIADFGLARD INNIDYYKKT
661 TNGRLPVKWM APEALFDRVY THQSDVWSFG VLMWEIFTLG GSPYPGIPVE ELFKLLKEGH
721 RMDKPANCTN ELYMMMRDCW HAVPSQRPTF KQLVEDLDRI LTLTTNEEYL DLSQPLEQYS
781 PSYPDTRSSC SSGDDSVFSP DPMPYEPCLP QYPHINGSVK TLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FGFR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 549 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 549 nTPM
- midbrain: 162 nTPM
- choroid plexus: 102 nTPM
- hippocampal formation: 77 nTPM
- basal ganglia: 59 nTPM
- hypothalamus: 50 nTPM
Single-cell type
- choroid plexus epithelial cells: 1,987 nCPM
- bergmann glia: 1,332 nCPM
- gastric progenitor cells: 856 nCPM
- cholangiocytes: 631 nCPM
- oligodendrocytes: 629 nCPM
- pituitary stem cells: 272 nCPM
Immune cell
- basophil: 3 nTPM
- eosinophil: 2 nTPM
- neutrophil: 0.3 nTPM
- memory CD4 T-cell: 0.1 nTPM
- naive B-cell: 0.1 nTPM
- classical monocyte: 0 nTPM
Brain region
- white matter: 453 nTPM
- medulla oblongata: 395 nTPM
- midbrain: 262 nTPM
- choroid plexus: 256 nTPM
- basal ganglia: 256 nTPM
- cerebellum: 255 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FGFR2.
Disease | AllUniProt
Conditions FGFR2 is implicated in, by any mechanism.
- Crouzon syndrome (CS) MIM:123500
- Jackson-Weiss syndrome (JWS) MIM:123150
- Apert syndrome (APRS) MIM:101200
- Pfeiffer syndrome (PS) MIM:101600
- Beare-Stevenson cutis gyrata syndrome (BSTVS) MIM:123790
- Familial scaphocephaly syndrome (FSPC) MIM:609579
- Lacrimo-auriculo-dento-digital syndrome 1 (LADD1) MIM:149730
- Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2) MIM:207410
- Bent bone dysplasia syndrome 1 (BBDS1) MIM:614592
- Saethre-Chotzen syndrome (SCS) MIM:101400
Disease | GeneticClinVar
130 pathogenic / likely-pathogenic of 950 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- FGFR2-related craniosynostosis
- Crouzon syndrome
- Pfeiffer syndrome
- FGFR2-related disorder
- 11 conditions
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.27
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.4
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- animal organ morphogenesis
- apoptotic process
- axonogenesis
- bone development
- bone mineralization
- bone morphogenesis
- branch elongation involved in salivary gland morphogenesis
- branching involved in labyrinthine layer morphogenesis
- branching involved in prostate gland morphogenesis
- branching involved in salivary gland morphogenesis
- branching morphogenesis of a nerve
- bud elongation involved in lung branching
- cell fate commitment
- cell-cell signaling
- cellular response to hypoxia
- cellular response to retinoic acid
- cellular response to transforming growth factor beta stimulus
- digestive tract development
- embryonic cranial skeleton morphogenesis
- embryonic digestive tract morphogenesis
- embryonic organ development
- embryonic organ morphogenesis
- embryonic pattern specification
- endochondral bone growth
- epidermis morphogenesis
- epithelial cell differentiation
- epithelial cell proliferation involved in salivary gland morphogenesis
- epithelial to mesenchymal transition
- fibroblast growth factor receptor signaling pathway
- fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development
- gland morphogenesis
- hair follicle morphogenesis
- in utero embryonic development
- inner ear morphogenesis
- lacrimal gland development
- limb bud formation
- lung alveolus development
- lung development
- lung lobe morphogenesis
- lung-associated mesenchyme development
- mammary gland bud formation
- membranous septum morphogenesis
- mesenchymal cell differentiation
- mesenchymal cell differentiation involved in lung development
- mesenchymal cell proliferation involved in lung development
- mesodermal cell differentiation
- midbrain development
- morphogenesis of embryonic epithelium
- negative regulation of keratinocyte proliferation
- negative regulation of transcription by RNA polymerase II
- odontogenesis
- orbitofrontal cortex development
- organ growth
- otic vesicle formation
- outflow tract septum morphogenesis
- peptidyl-tyrosine phosphorylation
- positive regulation of canonical Wnt signaling pathway
- positive regulation of cardiac muscle cell proliferation
- positive regulation of cell cycle
- positive regulation of cell division
- positive regulation of cell population proliferation
- positive regulation of epithelial cell proliferation
- positive regulation of epithelial cell proliferation involved in lung morphogenesis
- positive regulation of ERK1 and ERK2 cascade
- positive regulation of MAPK cascade
- positive regulation of mesenchymal cell proliferation
- positive regulation of phospholipase activity
- positive regulation of transcription by RNA polymerase II
- positive regulation of vascular associated smooth muscle cell proliferation
- positive regulation of Wnt signaling pathway
- post-embryonic development
- prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
- prostate epithelial cord elongation
- prostate gland morphogenesis
- protein autophosphorylation
- pyramidal neuron development
- regulation of ERK1 and ERK2 cascade
- regulation of morphogenesis of a branching structure
- regulation of osteoblast differentiation
- regulation of osteoblast proliferation
- regulation of smooth muscle cell differentiation
- regulation of smoothened signaling pathway
- reproductive structure development
- response to ethanol
- response to lipopolysaccharide
- skeletal system morphogenesis
- squamous basal epithelial stem cell differentiation involved in prostate gland acinus development
- ureteric bud development
- ventricular cardiac muscle tissue morphogenesis
- ventricular zone neuroblast division
- fibroblast growth factor receptor signaling pathway involved in hemopoiesis
- fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell
- fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow
- lateral sprouting from an epithelium
Molecular functions
- ATP binding
- fibroblast growth factor binding
- fibroblast growth factor receptor activity
- heparin binding
- identical protein binding
- protein homodimerization activity
- protein tyrosine kinase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Protein kinase domain
- Serine-threonine/tyrosine-protein kinase, catalytic domain
- Immunoglobulin subtype 2
- Immunoglobulin domain subtype
- Immunoglobulin-like domain
- Tyrosine-protein kinase, active site
- Protein kinase-like domain superfamily
- Immunoglobulin I-set
- Immunoglobulin-like fold
- Fibroblast growth factor receptor family
- Protein kinase, ATP binding site
- Tyrosine-protein kinase, catalytic domain
- Immunoglobulin-like domain superfamily
- Receptor Tyrosine Kinase
- Immunoglobulin I-set domain
- Protein tyrosine and serine/threonine kinase
- Immunoglobulin domain
KeywordsUniProt
- Apoptosis
- ATP-binding
- Cell membrane
- Craniosynostosis
- Cytoplasmic vesicle
- Disulfide bond
- Ectodermal dysplasia
- Glycoprotein
- Golgi apparatus
- Heparin-binding
- Immunoglobulin domain
- Intellectual disability
- Kinase
- Lacrimo-auriculo-dento-digital syndrome
- Membrane
- Nucleotide-binding
- Phosphoprotein
- Proto-oncogene
- Receptor
- Repeat
- Secreted
- Signal
- Transferase
- Transmembrane
- Transmembrane helix
- Tyrosine-protein kinase
- Ubl conjugation
InteractionsUniProt · HPA
Protein binding partners of FGFR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FGFR2 as an antibody target. Whether an autoantibody or antibody against FGFR2 could matter depends on whether native FGFR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FGFR2 is annotated at the cell surface, where native FGFR2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label FGFR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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