Details for: FGFR3

Gene ID: 2261

Symbol: FGFR3

Ensembl ID: ENSG00000068078

Description: fibroblast growth factor receptor 3

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 3.25
    Marker Score: 2136
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.48
    Marker Score: 52902
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.16
    Marker Score: 2450
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.99
    Marker Score: 14805
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.91
    Marker Score: 2006
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.89
    Marker Score: 2292
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.77
    Marker Score: 1957
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.69
    Marker Score: 2186
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.66
    Marker Score: 970
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.62
    Marker Score: 709
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.61
    Marker Score: 1670
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.47
    Marker Score: 1276
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.36
    Marker Score: 1996
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.31
    Marker Score: 371
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.18
    Marker Score: 2787
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.17
    Marker Score: 4881
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.1
    Marker Score: 9512
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.09
    Marker Score: 8518.5
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.08
    Marker Score: 593
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.05
    Marker Score: 665.5
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.05
    Marker Score: 839
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251778
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.03
    Marker Score: 787
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.02
    Marker Score: 685
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71796
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48021
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.98
    Marker Score: 847
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 504
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.96
    Marker Score: 2582
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.96
    Marker Score: 3409
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.94
    Marker Score: 1525
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.94
    Marker Score: 503
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.93
    Marker Score: 267
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.92
    Marker Score: 1232
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2739
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.91
    Marker Score: 308
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5186
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.86
    Marker Score: 571
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.83
    Marker Score: 167
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.81
    Marker Score: 12699
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.8
    Marker Score: 1004
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.78
    Marker Score: 2550
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.76
    Marker Score: 1553
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 303
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 469
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.71
    Marker Score: 267
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2990
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 650
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.67
    Marker Score: 970
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.67
    Marker Score: 131
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.63
    Marker Score: 165
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.63
    Marker Score: 147
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.62
    Marker Score: 180
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.62
    Marker Score: 1934
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.61
    Marker Score: 290
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.6
    Marker Score: 652
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.59
    Marker Score: 390
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.58
    Marker Score: 263
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.57
    Marker Score: 479
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.57
    Marker Score: 7624
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.56
    Marker Score: 656
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.56
    Marker Score: 692
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.55
    Marker Score: 226
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.53
    Marker Score: 321
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.52
    Marker Score: 2262
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.52
    Marker Score: 137
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.51
    Marker Score: 190.5
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.51
    Marker Score: 503.5
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.49
    Marker Score: 337
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.49
    Marker Score: 2341
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.49
    Marker Score: 2611
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.46
    Marker Score: 113
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.45
    Marker Score: 454
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.44
    Marker Score: 405
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.44
    Marker Score: 991
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.43
    Marker Score: 1091
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.43
    Marker Score: 121.5
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.42
    Marker Score: 101.5
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.42
    Marker Score: 295
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.41
    Marker Score: 2629
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.41
    Marker Score: 279
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.41
    Marker Score: 390
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.41
    Marker Score: 150
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.4
    Marker Score: 111
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.4
    Marker Score: 280
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.39
    Marker Score: 193
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.37
    Marker Score: 1970
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.37
    Marker Score: 117
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.37
    Marker Score: 217
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.37
    Marker Score: 2401
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.36
    Marker Score: 173
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.36
    Marker Score: 157

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Other Information

**Key characteristics:** - FGFR3 is a transmembrane protein with a single extracellular domain and three intracellular domains. - It is a member of the FGFR family of cell surface receptors that are known for their role in cell growth and differentiation. - FGFR3 is a receptor for FGF, a cytokine that is highly expressed in the central nervous system. - It is a key regulator of neural development and survival, as well as the development of cancer. **Pathways and functions:** - FGFR3 signaling is involved in multiple cellular processes, including cell growth, differentiation, and migration. - In the central nervous system, FGFR3 signaling is essential for the survival and differentiation of neurons. - It is also involved in the development and maintenance of the blood-brain barrier. - In cancer, FGFR3 signaling is often overexpressed, which can lead to the growth and survival of cancer cells. **Clinical significance:** - FGFR3 mutations are found in a significant percentage of human cancers, including gliomas, brain tumors, and breast cancer. - Targeting FGFR3 with antibodies or small molecules is a promising therapeutic strategy for cancer treatment. - Clinical trials are currently evaluating the use of FGFR3 inhibitors as a treatment for cancer. **Additional notes:** - FGFR3 is a highly conserved protein, with homologs found in other mammals. - It is a well-documented target for cancer therapy. - FGFR3 signaling is a complex and multifaceted process that is still not fully understood.

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 11 DrugCentral 1 EC 2 EMBL 14 EMDB 1 EPD 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 34 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 13 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 13 PDBsum 7 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 4 PROSITE-ProRule 3 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 SAM 1 SASBDB 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 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 13 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 8 ChiTaRS 1 DNASU 1 EC 1 EMBL 3 GO 3 Gene3D 3 GenomeRNAi 1 InterPro 8 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 2 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. For the full schema, download it here.