Details for: FGFR3

Gene ID: 2261

Symbol: FGFR3

Ensembl ID: ENSG00000068078

Description: fibroblast growth factor receptor 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 114.6933
    Cell Significance Index: -17.8400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 71.6360
    Cell Significance Index: -18.1700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 14.6964
    Cell Significance Index: -18.1200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 10.9985
    Cell Significance Index: 150.0600
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 10.7031
    Cell Significance Index: 24.1300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.7678
    Cell Significance Index: -18.1300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.5919
    Cell Significance Index: -18.1200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 3.6616
    Cell Significance Index: 102.3300
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 3.5256
    Cell Significance Index: 49.3000
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 3.2725
    Cell Significance Index: 36.3700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.6406
    Cell Significance Index: 137.1700
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.5788
    Cell Significance Index: 36.7100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.4788
    Cell Significance Index: -5.4300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.0761
    Cell Significance Index: 48.7800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.8408
    Cell Significance Index: 18.2200
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.8366
    Cell Significance Index: 6.6800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8343
    Cell Significance Index: 165.5600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8137
    Cell Significance Index: 23.4500
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.8010
    Cell Significance Index: 13.8500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6638
    Cell Significance Index: 81.6300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6229
    Cell Significance Index: 101.3100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6050
    Cell Significance Index: 65.8100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5587
    Cell Significance Index: 33.5400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5405
    Cell Significance Index: 53.4700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4821
    Cell Significance Index: 86.9100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3706
    Cell Significance Index: 334.6300
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.3438
    Cell Significance Index: 3.1200
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.3425
    Cell Significance Index: 1.2900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3262
    Cell Significance Index: 22.5600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2292
    Cell Significance Index: 101.3200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1676
    Cell Significance Index: 258.0900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1669
    Cell Significance Index: 21.3900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1481
    Cell Significance Index: 5.2100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1351
    Cell Significance Index: 25.7100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1164
    Cell Significance Index: 63.5600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0826
    Cell Significance Index: 112.2500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0463
    Cell Significance Index: 85.4700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0390
    Cell Significance Index: 0.8100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0336
    Cell Significance Index: 0.8400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.0118
    Cell Significance Index: 0.0700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0089
    Cell Significance Index: 16.7600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0077
    Cell Significance Index: 5.6800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0036
    Cell Significance Index: -0.6200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0089
    Cell Significance Index: -5.5500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0124
    Cell Significance Index: -9.1900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0141
    Cell Significance Index: -10.7000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0229
    Cell Significance Index: -12.9000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0256
    Cell Significance Index: -16.2800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0257
    Cell Significance Index: -9.2300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0283
    Cell Significance Index: -8.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0295
    Cell Significance Index: -3.3800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0382
    Cell Significance Index: -0.5800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0397
    Cell Significance Index: -18.0000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0512
    Cell Significance Index: -1.0900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0551
    Cell Significance Index: -11.6000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0664
    Cell Significance Index: -13.3200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0733
    Cell Significance Index: -8.5400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0802
    Cell Significance Index: -0.8300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0832
    Cell Significance Index: -9.5000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1017
    Cell Significance Index: -14.7900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.1129
    Cell Significance Index: -1.0400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1149
    Cell Significance Index: -3.6800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1168
    Cell Significance Index: -11.9300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1214
    Cell Significance Index: -16.6700
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.1346
    Cell Significance Index: -0.8500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1379
    Cell Significance Index: -17.8200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1492
    Cell Significance Index: -4.0600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1724
    Cell Significance Index: -17.9500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1729
    Cell Significance Index: -10.6000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2004
    Cell Significance Index: -15.8700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2004
    Cell Significance Index: -5.1500
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.2045
    Cell Significance Index: -2.3400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2252
    Cell Significance Index: -13.8400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2260
    Cell Significance Index: -16.8400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2323
    Cell Significance Index: -3.5000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2427
    Cell Significance Index: -16.3200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2480
    Cell Significance Index: -12.9200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2502
    Cell Significance Index: -19.2000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2545
    Cell Significance Index: -16.0400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2655
    Cell Significance Index: -14.9000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2787
    Cell Significance Index: -17.9800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2961
    Cell Significance Index: -20.9400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3008
    Cell Significance Index: -8.8600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3122
    Cell Significance Index: -12.7900
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.3348
    Cell Significance Index: -5.1800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3418
    Cell Significance Index: -16.0700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.3454
    Cell Significance Index: -5.8100
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.3479
    Cell Significance Index: -8.6900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3724
    Cell Significance Index: -13.6700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3784
    Cell Significance Index: -5.6700
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.3801
    Cell Significance Index: -2.8700
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.3880
    Cell Significance Index: -5.5600
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.3881
    Cell Significance Index: -5.4400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4176
    Cell Significance Index: -18.4700
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.4278
    Cell Significance Index: -3.2700
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: -0.4288
    Cell Significance Index: -4.9900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4363
    Cell Significance Index: -15.1600
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: -0.4372
    Cell Significance Index: -4.5100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.4732
    Cell Significance Index: -10.1200
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: -0.4752
    Cell Significance Index: -2.9400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Receptor Tyrosine Kinase**: FGFR3 is a receptor tyrosine kinase, a type of enzyme that phosphorylates and activates downstream signaling proteins upon binding to its ligands. 2. **High Expression in Skeletal System**: FGFR3 is highly expressed in the skeletal system, particularly in chondrocytes, osteoblasts, and osteoclasts, where it regulates bone growth, development, and remodeling. 3. **Critical Role in Development**: FGFR3 plays a crucial role in embryonic development, particularly in the formation of cartilage, bone, and nervous system tissues. 4. **Mutations Implicated in Diseases**: Mutations in FGFR3 have been linked to various diseases, including achondroplasia (a form of short-limbed dwarfism), craniosynostosis, and certain types of cancer. 5. **Signaling Pathways**: FGFR3 activates multiple signaling pathways, including the PI3K/AKT, MAPK/ERK, and JAK/STAT pathways, which regulate various cellular processes. **Pathways and Functions** 1. **Cell Growth and Proliferation**: FGFR3 regulates cell growth and proliferation by activating the PI3K/AKT pathway, which promotes cell survival and proliferation. 2. **Differentiation and Morphogenesis**: FGFR3 is involved in the differentiation and morphogenesis of chondrocytes, osteoblasts, and other cell types, regulating the formation of cartilage, bone, and other tissues. 3. **Apoptosis and Cell Survival**: FGFR3 can regulate apoptosis (programmed cell death) and cell survival by activating the PI3K/AKT pathway and other signaling pathways. 4. **Bone Remodeling**: FGFR3 plays a critical role in bone remodeling, regulating the activity of osteoblasts and osteoclasts, which are responsible for bone resorption and formation. 5. **Cancer Development**: Mutations in FGFR3 have been implicated in the development of certain types of cancer, including osteosarcoma, chondrosarcoma, and soft tissue sarcomas. **Clinical Significance** 1. **Achondroplasia**: FGFR3 mutations are responsible for achondroplasia, a form of short-limbed dwarfism. 2. **Craniosynostosis**: FGFR3 mutations can cause craniosynostosis, a condition characterized by premature fusion of the bones of the skull. 3. **Osteosarcoma**: FGFR3 mutations have been implicated in the development of osteosarcoma, a type of bone cancer. 4. **Chondrosarcoma**: FGFR3 mutations can cause chondrosarcoma, a type of cartilage cancer. 5. **Soft Tissue Sarcomas**: FGFR3 mutations have been implicated in the development of soft tissue sarcomas, including liposarcomas and leiomyosarcomas. In conclusion, FGFR3 is a critical receptor tyrosine kinase involved in various cellular processes, including cell growth, differentiation, and survival. Mutations in FGFR3 have been implicated in several diseases, including bone disorders, cancer, and developmental abnormalities. Understanding the signaling pathways and functions of FGFR3 is essential for the development of novel therapies for these diseases.

Genular Protein ID: 306155767

Symbol: FGFR3_HUMAN

Name: Fibroblast growth factor receptor 3

UniProtKB Accession Codes:

P22607 D3DVP9 D3DVQ0 Q14308 Q16294 Q16608 Q59FL9

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CPTAC 2 CTD 1 ChEBI 7 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 12 DrugCentral 1 EC 2 EMBL 14 EMDB 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 32 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 14 KEGG 1 MANE-Select 1 MIM 31 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 13 OrthoDB 1 PANTHER 2 PDB 10 PDBsum 10 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 16 RefSeq 3 Rhea 3 SASBDB 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1847508

Title: Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3.

PubMed ID: 1847508

DOI: 10.1073/pnas.88.4.1095

PubMed ID: 11703096

Title: Fibroblast growth factor receptor 3 lacking the Ig IIIb and transmembrane domains secreted from human squamous cell carcinoma DJM-1 binds to FGFs.

PubMed ID: 11703096

DOI: 10.1006/mcbr.2001.0306

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 1664411

Title: A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

PubMed ID: 1664411

DOI: 10.1016/0888-7543(91)90041-c

PubMed ID: 2247464

Title: Putative tyrosine kinases expressed in K-562 human leukemia cells.

PubMed ID: 2247464

DOI: 10.1073/pnas.87.22.8913

PubMed ID: 7923141

Title: Identification of a novel variant form of fibroblast growth factor receptor 3 (FGFR3 IIIb) in human colonic epithelium.

PubMed ID: 7923141

PubMed ID: 7495869

Title: The choice between alternative IIIb and IIIc exons of the FGFR-3 gene is not strictly tissue-specific.

PubMed ID: 7495869

DOI: 10.1016/0167-4781(95)00156-b

PubMed ID: 8663044

Title: Receptor specificity of the fibroblast growth factor family.

PubMed ID: 8663044

DOI: 10.1074/jbc.271.25.15292

PubMed ID: 10053006

Title: A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

PubMed ID: 10053006

DOI: 10.1086/302275

PubMed ID: 10611230

Title: The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.

PubMed ID: 10611230

DOI: 10.1128/mcb.20.2.516-522.2000

PubMed ID: 11294897

Title: Identification of tyrosine residues in constitutively activated fibroblast growth factor receptor 3 involved in mitogenesis, Stat activation, and phosphatidylinositol 3-kinase activation.

PubMed ID: 11294897

DOI: 10.1091/mbc.12.4.931

PubMed ID: 12297284

Title: FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.

PubMed ID: 12297284

DOI: 10.1016/s0014-5793(02)03255-6

PubMed ID: 14534538

Title: The phosphotyrosine phosphatase SHP2 is a critical mediator of transformation induced by the oncogenic fibroblast growth factor receptor 3.

PubMed ID: 14534538

DOI: 10.1038/sj.onc.1206798

PubMed ID: 16597617

Title: Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family.

PubMed ID: 16597617

DOI: 10.1074/jbc.m601252200

PubMed ID: 16410555

Title: Suppressors of cytokine signaling (SOCS) 1 and SOCS3 interact with and modulate fibroblast growth factor receptor signaling.

PubMed ID: 16410555

DOI: 10.1242/jcs.02740

PubMed ID: 17561467

Title: Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1.

PubMed ID: 17561467

DOI: 10.1016/j.bone.2006.11.030

PubMed ID: 17509076

Title: The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor.

PubMed ID: 17509076

DOI: 10.1111/j.1742-4658.2007.05835.x

PubMed ID: 17145761

Title: Bisindolylmaleimide I suppresses fibroblast growth factor-mediated activation of Erk MAP kinase in chondrocytes by preventing Shp2 association with the Frs2 and Gab1 adaptor proteins.

PubMed ID: 17145761

DOI: 10.1074/jbc.m606144200

PubMed ID: 17623664

Title: Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21.

PubMed ID: 17623664

DOI: 10.1074/jbc.m704165200

PubMed ID: 17311277

Title: Fibroblast growth factor receptor-induced phosphorylation of STAT1 at the Golgi apparatus without translocation to the nucleus.

PubMed ID: 17311277

DOI: 10.1002/jcp.21014

PubMed ID: 19088846

Title: Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage.

PubMed ID: 19088846

DOI: 10.1371/journal.pone.0003961

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19286672

Title: A novel interaction between fibroblast growth factor receptor 3 and the p85 subunit of phosphoinositide 3-kinase: activation-dependent regulation of ERK by p85 in multiple myeloma cells.

PubMed ID: 19286672

DOI: 10.1093/hmg/ddp116

PubMed ID: 15863030

Title: Cellular signaling by fibroblast growth factor receptors.

PubMed ID: 15863030

DOI: 10.1016/j.cytogfr.2005.01.001

PubMed ID: 15748888

Title: Cell responses to FGFR3 signalling: growth, differentiation and apoptosis.

PubMed ID: 15748888

DOI: 10.1016/j.yexcr.2004.11.012

PubMed ID: 19066716

Title: FGFR3-related dwarfism and cell signaling.

PubMed ID: 19066716

DOI: 10.1007/s00774-008-0009-7

PubMed ID: 20094046

Title: Fibroblast growth factor signalling: from development to cancer.

PubMed ID: 20094046

DOI: 10.1038/nrc2780

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 14732692

Title: Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity.

PubMed ID: 14732692

DOI: 10.1073/pnas.0307287101

PubMed ID: 8078586

Title: Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

PubMed ID: 8078586

DOI: 10.1038/371252a0

PubMed ID: 7847369

Title: Achondroplasia is defined by recurrent G380R mutations of FGFR3.

PubMed ID: 7847369

PubMed ID: 7758520

Title: A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.

PubMed ID: 7758520

DOI: 10.1007/bf01954274

PubMed ID: 8589699

Title: Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

PubMed ID: 8589699

DOI: 10.1093/hmg/4.11.2175

PubMed ID: 7773297

Title: Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

PubMed ID: 7773297

DOI: 10.1038/ng0395-321

PubMed ID: 7670477

Title: A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

PubMed ID: 7670477

DOI: 10.1038/ng0795-357

PubMed ID: 7493034

Title: Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

PubMed ID: 7493034

DOI: 10.1038/ng1295-462

PubMed ID: 8599935

Title: Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.

PubMed ID: 8599935

DOI: 10.1002/j.1460-2075.1996.tb00384.x

PubMed ID: 8845844

Title: Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

PubMed ID: 8845844

DOI: 10.1093/hmg/5.4.509

PubMed ID: 8754806

Title: Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II.

PubMed ID: 8754806

DOI: 10.1128/mcb.16.8.4081

PubMed ID: 9042914

Title: A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

PubMed ID: 9042914

PubMed ID: 9207791

Title: Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3.

PubMed ID: 9207791

DOI: 10.1038/ng0797-260

PubMed ID: 9790257

Title: G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.

PubMed ID: 9790257

DOI: 10.1507/endocrj.45.suppl_s171

PubMed ID: 10215410

Title: A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia.

PubMed ID: 10215410

DOI: 10.1002/(sici)1098-1004(1998)11:4<333::aid-humu18>3.0.co;2-g

PubMed ID: 9452043

Title: Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.

PubMed ID: 9452043

DOI: 10.1002/humu.1380110122

PubMed ID: 10671061

Title: Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I.

PubMed ID: 10671061

PubMed ID: 9525367

Title: Deafness due to Pro250Arg mutation of FGFR3.

PubMed ID: 9525367

DOI: 10.1016/s0140-6736(98)24012-8

PubMed ID: 10360402

Title: Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.

PubMed ID: 10360402

DOI: 10.1002/(sici)1096-8628(19990611)84:5<476::aid-ajmg12>3.3.co;2-o

PubMed ID: 9950359

Title: Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

PubMed ID: 9950359

PubMed ID: 10471491

Title: Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.

PubMed ID: 10471491

DOI: 10.1038/12615

PubMed ID: 11055896

Title: Distinct missense mutations of the FGFR3 Lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

PubMed ID: 11055896

DOI: 10.1086/316892

PubMed ID: 10777366

Title: Clinical and radiographic features of a family with hypochondroplasia owing to a novel asn540ser mutation in the fibroblast growth factor receptor 3 gene.

PubMed ID: 10777366

DOI: 10.1136/jmg.37.3.220

PubMed ID: 11746040

Title: Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.

PubMed ID: 11746040

DOI: 10.1002/ajmg.10049

PubMed ID: 11529856

Title: Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14).

PubMed ID: 11529856

DOI: 10.1046/j.1365-2141.2001.02957.x

PubMed ID: 11325814

Title: Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers.

PubMed ID: 11325814

PubMed ID: 11314002

Title: Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.

PubMed ID: 11314002

DOI: 10.1038/sj.onc.1204110

PubMed ID: 12707965

Title: Hypochondroplasia and stature within normal limits: another family with an Asn540-to-Ser mutation in the fibroblast growth factor receptor 3 gene.

PubMed ID: 12707965

DOI: 10.1002/ajmg.a.10238

PubMed ID: 15772091

Title: Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.

PubMed ID: 15772091

DOI: 10.1093/hmg/ddi127

PubMed ID: 17033969

Title: A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

PubMed ID: 17033969

DOI: 10.1086/508433

PubMed ID: 16841094

Title: Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

PubMed ID: 16841094

DOI: 10.1172/jci28163

PubMed ID: 16501574

Title: Mutations in different components of FGF signaling in LADD syndrome.

PubMed ID: 16501574

DOI: 10.1038/ng1757

PubMed ID: 17935505

Title: Crouzon with acanthosis nigricans. Further delineation of the syndrome.

PubMed ID: 17935505

DOI: 10.1111/j.1399-0004.2007.00884.x

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 19855393

Title: Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

PubMed ID: 19855393

DOI: 10.1038/ng.470

Sequence Information:

  • Length: 806
  • Mass: 87710
  • Checksum: BC5EA75EA46F447E
  • Sequence:
    • MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS 
CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH 
FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG 
NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT 
YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP 
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE 
EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK 
RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE 
GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN 
LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ 
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW 
MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT 
HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS 
SSSGDDSVFA HDLLPPAPPS SGGSRT

Genular Protein ID: 3143133149

Symbol: Q0IJ44_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q0IJ44

Database IDs:

ARBA 11 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 10 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 3 GO 7 Gene3D 3 InterPro 9 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 4 PRINTS 1 PROSITE 4 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 3 Rhea 3 SAM 2 SMART 1 SMR 1 SUPFAM 2

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 480
  • Mass: 52772
  • Checksum: 76D658CFF5765DFA
  • Sequence:
    • TRALPEDAGE YTCLAGNSIG FSHHSAWLVV LPAEEELVEA DEAGSVYAGI LSYGVGFFLF 
ILVVAAVTLC RLRSPPKKGL GSPTVHKISR FPLKRQVSLE SNASMSSNTP LVRIARLSSG 
EGPTLANVSE LELPADPKWE LSRARLTLGK PLGEGCFGQV VMAEAIGIDK DRAAKPVTVA 
VKMLKDDATD KDLSDLVSEM EMMKMIGKHK NIINLLGACT QGGPLYVLVE YAAKGNLREF 
LRARRPPGLD YSFDTCKPPE EQLTFKDLVS CAYQVARGME YLASQKCIHR DLAARNVLVT 
EDNVMKIADF GLARDVHNLD YYKKTTNGRL PVKWMAPEAL FDRVYTHQSD VWSFGVLLWE 
IFTLGGSPYP GIPVEELFKL LKEGHRMDKP ANCTHDLYMI MRECWHAAPS QRPTFKQLVE 
DLDRVLTVTS TDEYLDLSAP FEQYSPGGQD TPSSSSSGDD SVFAHDLLPP APPSSGGSRT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.