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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes CD markers Disease related genes Enzymes FDA approved drug targets Human disease related genes RAS pathway related proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
4
Cytoband
p16.3
Chromosome location (bp)
1793293 - 1808872
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. 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. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B. Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 and hence may interfere with FGF signaling....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist 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 binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of male genital organs Cancers of the urinary system Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the musculoskeletal system Congenital malformations of skin Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0000165[MAPK cascade] GO:0000166[nucleotide binding] GO:0001501[skeletal system development] GO:0001958[endochondral ossification] GO:0002062[chondrocyte differentiation] GO:0003416[endochondral bone growth] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005007[fibroblast growth factor receptor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0006468[protein phosphorylation] GO:0006915[apoptotic process] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0008284[positive regulation of cell population proliferation] GO:0008543[fibroblast growth factor receptor signaling pathway] GO:0010518[positive regulation of phospholipase activity] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0017134[fibroblast growth factor binding] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0030133[transport vesicle] GO:0030282[bone mineralization] GO:0031410[cytoplasmic vesicle] GO:0033674[positive regulation of kinase activity] GO:0035988[chondrocyte proliferation] GO:0042531[positive regulation of tyrosine phosphorylation of STAT protein] GO:0042802[identical protein binding] GO:0043235[receptor complex] GO:0043410[positive regulation of MAPK cascade] GO:0043552[positive regulation of phosphatidylinositol 3-kinase activity] GO:0046777[protein autophosphorylation] GO:0048640[negative regulation of developmental growth] GO:0060349[bone morphogenesis] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0070977[bone maturation] GO:1902178[fibroblast growth factor receptor apoptotic signaling pathway]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of male genital organs Cancers of the urinary system Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the musculoskeletal system Congenital malformations of skin Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0000165[MAPK cascade] GO:0000166[nucleotide binding] GO:0001501[skeletal system development] GO:0001958[endochondral ossification] GO:0002062[chondrocyte differentiation] GO:0003416[endochondral bone growth] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005007[fibroblast growth factor receptor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0006468[protein phosphorylation] GO:0006915[apoptotic process] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0008284[positive regulation of cell population proliferation] GO:0008543[fibroblast growth factor receptor signaling pathway] GO:0010518[positive regulation of phospholipase activity] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0017134[fibroblast growth factor binding] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0030133[transport vesicle] GO:0030282[bone mineralization] GO:0031410[cytoplasmic vesicle] GO:0033674[positive regulation of kinase activity] GO:0035988[chondrocyte proliferation] GO:0042531[positive regulation of tyrosine phosphorylation of STAT protein] GO:0042802[identical protein binding] GO:0043235[receptor complex] GO:0043410[positive regulation of MAPK cascade] GO:0043552[positive regulation of phosphatidylinositol 3-kinase activity] GO:0046777[protein autophosphorylation] GO:0048640[negative regulation of developmental growth] GO:0060349[bone morphogenesis] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0070977[bone maturation] GO:1902178[fibroblast growth factor receptor apoptotic signaling pathway]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of male genital organs Cancers of the urinary system Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the musculoskeletal system Congenital malformations of skin Other congenital malformations Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of male genital organs Cancers of the urinary system Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the musculoskeletal system Congenital malformations of skin Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000165[MAPK cascade] GO:0000166[nucleotide binding] GO:0001501[skeletal system development] GO:0001958[endochondral ossification] GO:0002062[chondrocyte differentiation] GO:0003416[endochondral bone growth] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005007[fibroblast growth factor receptor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0006468[protein phosphorylation] GO:0006915[apoptotic process] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007267[cell-cell signaling] GO:0008284[positive regulation of cell population proliferation] GO:0008543[fibroblast growth factor receptor signaling pathway] GO:0009986[cell surface] GO:0010518[positive regulation of phospholipase activity] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0017134[fibroblast growth factor binding] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0030133[transport vesicle] GO:0030282[bone mineralization] GO:0031410[cytoplasmic vesicle] GO:0033674[positive regulation of kinase activity] GO:0035988[chondrocyte proliferation] GO:0042531[positive regulation of tyrosine phosphorylation of STAT protein] GO:0042802[identical protein binding] GO:0043235[receptor complex] GO:0043410[positive regulation of MAPK cascade] GO:0043552[positive regulation of phosphatidylinositol 3-kinase activity] GO:0046777[protein autophosphorylation] GO:0048640[negative regulation of developmental growth] GO:0060349[bone morphogenesis] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0070977[bone maturation] GO:1902178[fibroblast growth factor receptor apoptotic signaling pathway]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of male genital organs Cancers of the urinary system Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the musculoskeletal system Congenital malformations of skin Other congenital malformations Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of male genital organs Cancers of the urinary system Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the musculoskeletal system Congenital malformations of skin Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
