FGFR2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | FGFR2 |
| Official Name | fibroblast growth factor receptor 2 [Source:HGNC Symbol;Acc:HGNC:3689] |
| Ensembl ID | ENSG00000066468 |
| Bio databases IDs | |
| Aliases | fibroblast growth factor receptor 2, Crouzon syndrome, Pfeiffer syndrome |
| Synonyms | BBDS, CD332, CEK3, CFD1, ECT1, Fgfr2 3c, Fgfr2b isoform, Fgfr2c isoform, Fgfr-7, fibroblast growth factor receptor 2, JWS, KGFRTr, K-SAM, svs, TK14, TK25 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FGFR2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein-tyrosine kinase
- Protein kinase domain
- identical protein binding
- cytoplasmic domain
- ligand-binding domain
- Immunoglobulin like
- intracellular domain
- immunoglobulin-like protein domain
- membrane-proximal domain
- Tyrosine kinase, catalytic domain
- transmembrane receptor
- acid box domain
- extracellular domain
- type I intracellular domain
- Protein kinase (unclassified specificity)
- dimerization domain
- Protein tyrosine and serine/threonine kinase
- immunoglobulin domain
- ectodomain
- Immunoglobulin I-set domain
- autophosphorylation site
- protein binding
- acidic domain
- kinase
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- fibroblast growth factor receptor
- Protein Kinases, catalytic domain
- fibroblast growth factor binding
- transmembrane domain
- tyrosine kinase domain
- protein homodimerization
- glycosylation site
Pathways
Biological processes and signaling networks where the FGFR2 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Adipogenesis pathway
- CREB Signaling in Neurons
- FGF Signaling
- Hepatic Fibrosis / Hepatic Stellate Cell Activation
- Human Embryonic Stem Cell Pluripotency
- IL-15 Production
- NF-κB Signaling
- PTEN Signaling
- Regulation of the Epithelial-Mesenchymal Transition Pathway
- Sperm Motility
- STAT3 Pathway
- Transcriptional Regulatory Network in Embryonic Stem Cells
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- atopic dermatitis
- tumorigenesis
- adenoma formation
- epithelial neoplasia
- head and neck neoplasia
- benign neoplasia
- growth failure
- pervasive developmental disorder
- glioblastoma
role in cell
- phosphorylation in
- cell viability
- proliferation
- expression in
- morphology
- survival
- growth
- degradation in
- cell death
- apoptosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cell surface
- Extracellular Space
- cellular membrane
- cell cortex
- Nucleus
- vesicles
- Endoplasmic Reticulum
- trans Golgi network
- nuclear scaffolds
- extracellular matrix
- excitatory synapses
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FGFR2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lung-associated mesenchyme development
- post-embryonic development
- branching morphogenesis of a nerve
- prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
- prostate epithelial cord elongation
- regulation of smoothened signaling pathway
- squamous basal epithelial stem cell differentiation involved in prostate gland acinus development
- in utero embryonic development
- axonogenesis
- mesenchymal cell differentiation
- positive regulation of epithelial cell proliferation
- fibroblast growth factor receptor signaling pathway involved in mammary gland specification
- cell-cell signaling
- prostate gland morphogenesis
- mesenchymal cell differentiation involved in lung development
- mesenchymal cell proliferation involved in lung development
- hair follicle morphogenesis
- epithelial to mesenchymal transition
- organ growth
- positive regulation of cell proliferation
- regulation of smooth muscle cell differentiation
- positive regulation of cell cycle
- positive regulation of transcription from RNA polymerase II promoter
- epithelial cell proliferation involved in salivary gland morphogenesis
- regulation of osteoblast differentiation
- branch elongation involved in salivary gland morphogenesis
- outflow tract septum morphogenesis
- membranous septum morphogenesis
- positive regulation of cell division
- angiogenesis
- positive regulation of phospholipase activity
- orbitofrontal cortex development
- embryonic cranial skeleton morphogenesis
- gland morphogenesis
- positive regulation of MAPK cascade
- skeletal system morphogenesis
- ureteric bud development
- cellular response to retinoic acid
- otic vesicle formation
- cell fate commitment
- response to lipopolysaccharide
- peptidyl-tyrosine phosphorylation
- positive regulation of cardiac muscle cell proliferation
- branching involved in prostate gland morphogenesis
- ventricular cardiac muscle tissue morphogenesis
- bud elongation involved in lung branching
- protein autophosphorylation
- fibroblast growth factor receptor signaling pathway
- embryonic digestive tract morphogenesis
- branching involved in salivary gland morphogenesis
- regulation of morphogenesis of a branching structure
- lateral sprouting from an epithelium
- embryonic organ morphogenesis
- lung alveolus development
- midbrain development
- digestive tract development
- lacrimal gland development
- apoptotic process
- morphogenesis of embryonic epithelium
- cellular response to hypoxia
- reproductive structure development
- embryonic pattern specification
- branching involved in labyrinthine layer morphogenesis
- positive regulation of canonical Wnt receptor signaling pathway
- embryonic organ development
- positive regulation of mesenchymal cell proliferation
- pyramidal neuron development
- organ morphogenesis
- epithelial cell differentiation
- cellular response to transforming growth factor beta stimulus
- endochondral bone growth
- epidermis morphogenesis
- mesodermal cell differentiation
- inner ear morphogenesis
- positive regulation of Wnt receptor signaling pathway
- regulation of osteoblast proliferation
- lung lobe morphogenesis
- multicellular organismal development
- bone morphogenesis
- odontogenesis
- positive regulation of epithelial cell proliferation involved in lung morphogenesis
- bone development
- negative regulation of keratinocyte proliferation
- negative regulation of transcription from RNA polymerase II promoter
- response to ethanol
- positive regulation of kinase activity
- lung development
- bone mineralization
- limb bud formation
- ventricular zone neuroblast division
- transmembrane receptor protein tyrosine kinase signaling pathway
- mammary gland bud formation
- regulation of ERK1 and ERK2 cascade
- fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development
- positive regulation of ERK1 and ERK2 cascade
- fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow
- fibroblast growth factor receptor signaling pathway involved in hemopoiesis
- fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cell cortex
- membrane
- excitatory synapse
- cytoplasmic vesicle
- Golgi apparatus
- receptor complex
- extracellular region
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- fibroblast growth factor-activated receptor activity
- ATP binding
- protein tyrosine kinase activity
- protein homodimerization activity
- protein binding
- heparin binding
- fibroblast growth factor binding