FGFR3 [The Human Chemical-Genetic Interaction Map Project]

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======= FGFR3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: FGFR3
  * **<color #00a2e8>Official Name</color>**: fibroblast growth factor receptor 3
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2261|2261]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P22607|P22607]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FGFR3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FGFR3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/134934|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Tyrosine-protein kinase that acts as 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. {ECO:0000269|PubMed:10611230, ECO:0000269|PubMed:11294897, ECO:0000269|PubMed:11703096, ECO:0000269|PubMed:14534538, ECO:0000269|PubMed:16410555, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17145761, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17509076, ECO:0000269|PubMed:17561467, ECO:0000269|PubMed:19088846, ECO:0000269|PubMed:19286672, ECO:0000269|PubMed:8663044}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|I-set|
|Pkinase Tyr|
|Pkinase|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|fibroblast growth factor receptor apoptotic signaling pathway|
|fibroblast growth factor-activated receptor activity|
|chondrocyte proliferation|
|bone maturation|
|animal organ maturation|
|fibroblast growth factor binding|
|replacement ossification|
|endochondral ossification|
|positive regulation of phosphatidylinositol 3-kinase activity|
|positive regulation of lipid kinase activity|
|endochondral bone growth|
|bone growth|
|positive regulation of phospholipid metabolic process|
|bone mineralization|
|regulation of phosphatidylinositol 3-kinase activity|
|transmembrane receptor protein tyrosine kinase activity|
|positive regulation of phospholipase activity|
|regulation of lipid kinase activity|
|positive regulation of tyrosine phosphorylation of STAT protein|
|regulation of phospholipase activity|
|positive regulation of lipase activity|
|endochondral bone morphogenesis|
|regulation of tyrosine phosphorylation of STAT protein|
|fibroblast growth factor receptor signaling pathway|
|chondrocyte differentiation|
|regulation of phospholipid metabolic process|
|positive regulation of receptor signaling pathway via JAK-STAT|
|protein tyrosine kinase activity|
|positive regulation of receptor signaling pathway via STAT|
|transport vesicle|
|biomineral tissue development|
|biomineralization|
|organ growth|
|extrinsic apoptotic signaling pathway|
|regulation of lipase activity|
|negative regulation of developmental growth|
|cellular response to fibroblast growth factor stimulus|
|bone morphogenesis|
|response to fibroblast growth factor|
|regulation of receptor signaling pathway via JAK-STAT|
|regulation of receptor signaling pathway via STAT|
|anatomical structure maturation|
|positive regulation of lipid metabolic process|
|peptidyl-tyrosine phosphorylation|
|peptidyl-tyrosine modification|
|positive regulation of protein kinase B signaling|
|cartilage development|
|positive regulation of peptidyl-tyrosine phosphorylation|
|protein autophosphorylation|
|bone development|
|receptor complex|
|positive regulation of ERK1 and ERK2 cascade|
|regulation of protein kinase B signaling|
|connective tissue development|
|skeletal system morphogenesis|
|developmental maturation|
|negative regulation of growth|
|regulation of peptidyl-tyrosine phosphorylation|
|ossification|
|apoptotic signaling pathway|
|regulation of ERK1 and ERK2 cascade|
|regulation of developmental growth|
|MAPK cascade|
|developmental growth|
|growth|
|signal transduction by protein phosphorylation|
|regulation of lipid metabolic process|
|focal adhesion|
|skeletal system development|
|cellular response to growth factor stimulus|
|transmembrane receptor protein tyrosine kinase signaling pathway|
|response to growth factor|
|positive regulation of MAPK cascade|
|cell population proliferation|
|positive regulation of kinase activity|
|cell surface|
|positive regulation of transferase activity|
|regulation of growth|
|enzyme linked receptor protein signaling pathway|
|regulation of MAPK cascade|
|positive regulation of hydrolase activity|
|regulation of kinase activity|
|peptidyl-amino acid modification|
|positive regulation of cell population proliferation|
|apoptotic process|
|negative regulation of developmental process|
|animal organ morphogenesis|
|protein phosphorylation|
|regulation of transferase activity|
|Golgi apparatus|
|endoplasmic reticulum|
|positive regulation of protein phosphorylation|
|positive regulation of intracellular signal transduction|
|programmed cell death|
|positive regulation of phosphorylation|
|identical protein binding|
|cell death|
|cell-cell signaling|
|positive regulation of phosphate metabolic process|
|positive regulation of phosphorus metabolic process|
|cellular response to endogenous stimulus|
|positive regulation of protein modification process|
|regulation of hydrolase activity|
|phosphorylation|
|integral component of plasma membrane|
|positive regulation of catalytic activity|
|regulation of protein phosphorylation|
|response to endogenous stimulus|
|ATP binding|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|regulation of cell population proliferation|
|positive regulation of signal transduction|
|intracellular signal transduction|
|positive regulation of protein metabolic process|
|tissue development|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|extracellular region|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp288|HMS-I2 10μM R06 exp288]]|-1.81|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 3/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|2/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|1/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 15385
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.1 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='FGFR3 Expression in NALM6 Cells: -0.1'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>