FGFR2 Antibody – Rabbit Polyclonal

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]

FGFR2: a receptor tyrosine kinase of the highly-conserved FGFR family that binds fibroblast growth factor (FGF). Mutations are associated with many craniosynostotic syndromes and bone malformations. Mutations cause syndromes with defects in facial and limb development, including Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Apert syndrome, and Jackson-Weiss syndrome. Somatic mutations seen in gastric cancer. Amplified in gastric, breast and some B cell cancers, but deleted in glioblastoma Twenty splice-variant isoforms have been described.

Protein type: Kinase, protein; EC 2.7.10.1; Protein kinase, tyrosine (receptor); Oncoprotein; Membrane protein, integral; Protein kinase, TK; TK group; FGFR family

Chromosomal Location of Human Ortholog: 10q26

Cellular Component: Golgi apparatus; cell surface; intracellular membrane-bound organelle; integral to plasma membrane; cytoplasmic membrane-bound vesicle; integral to membrane; extracellular region; excitatory synapse; cell cortex; nucleoplasm; extracellular matrix; membrane; cytoplasm; plasma membrane; nucleus

Molecular Function: heparin binding; protein binding; protein homodimerization activity; fibroblast growth factor binding; fibroblast growth factor receptor activity; protein-tyrosine kinase activity; ATP binding

Biological Process: nerve growth factor receptor signaling pathway; mesodermal cell differentiation; embryonic pattern specification; post-embryonic development; embryonic organ morphogenesis; morphogenesis of embryonic epithelium; cell-cell signaling; embryonic digestive tract morphogenesis; positive regulation of mesenchymal cell proliferation; midbrain development; ventricular cardiac muscle morphogenesis; neuromuscular junction development; positive regulation of cardiac muscle cell proliferation; inner ear morphogenesis; cell fate commitment; fibroblast growth factor receptor signaling pathway; regulation of osteoblast differentiation; regulation of fibroblast growth factor receptor signaling pathway; positive regulation of cell cycle; embryonic cranial skeleton morphogenesis; neuroblast division in the ventricular zone; organ growth; organ morphogenesis; mesenchymal cell differentiation; positive regulation of cell division; negative regulation of mitosis; embryonic organ development; positive regulation of transcription from RNA polymerase II promoter; gland morphogenesis; alveolus development; positive regulation of epithelial cell proliferation; peptidyl-tyrosine phosphorylation; branching morphogenesis of a nerve; apoptosis; positive regulation of smooth muscle cell proliferation; protein amino acid autophosphorylation; pyramidal neuron development; negative regulation of transcription from RNA polymerase II promoter; orbitofrontal cortex development; bone mineralization; odontogenesis; regulation of osteoblast proliferation; epithelial cell differentiation; positive regulation of MAPKKK cascade; ureteric bud development; epidermis morphogenesis; regulation of smooth muscle cell differentiation; positive regulation of cell proliferation; lacrimal gland development; angiogenesis; otic vesicle formation; positive regulation of Wnt receptor signaling pathway; negative regulation of epithelial cell proliferation; epidermal growth factor receptor signaling pathway; phosphoinositide-mediated signaling; hair follicle morphogenesis; in utero embryonic development; multicellular organism growth; synaptic vesicle transport; regulation of multicellular organism growth; limb bud formation; gut development; axonogenesis; skeletal morphogenesis; regulation of cell fate commitment; insulin receptor signaling pathway; epithelial to mesenchymal transition; innate immune response; reproductive structure development; lung development; regulation of smoothened signaling pathway

Disease: Pfeiffer Syndrome; Lacrimoauriculodentodigital Syndrome; Scaphocephaly, Maxillary Retrusion, And Mental Retardation; Apert Syndrome; Gastric Cancer; Jackson-weiss Syndrome; Beare-stevenson Cutis Gyrata Syndrome; Crouzon Syndrome; Antley-bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis; Bent Bone Dysplasia Syndrome; Saethre-chotzen Syndrome