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Aliases for FGFR3 Gene

Aliases for FGFR3 Gene

  • Fibroblast Growth Factor Receptor 3 2 3
  • EC 2.7.10.1 4 64
  • FGFR-3 3 4
  • JTK4 3 4
  • ACH 3 6
  • Fibroblast Growth Factor Receptor 3 Variant 4 3
  • Achondroplasia, Thanatophoric Dwarfism 2
  • Hydroxyaryl-Protein Kinase 3
  • Tyrosine Kinase JTK4 3
  • CD333 Antigen 4
  • HSFGFR3EX 3
  • EC 2.7.10 64
  • CD333 3
  • CEK2 3

External Ids for FGFR3 Gene

Previous Symbols for FGFR3 Gene

  • ACH

Summaries for FGFR3 Gene

Entrez Gene Summary for FGFR3 Gene

  • 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. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009]

GeneCards Summary for FGFR3 Gene

FGFR3 (Fibroblast Growth Factor Receptor 3) is a Protein Coding gene. Diseases associated with FGFR3 include skeletal dysplasia, san diego type and fgfr3-related craniosynostosis. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include protein tyrosine kinase activity and fibroblast growth factor-activated receptor activity. An important paralog of this gene is FGFR1.

UniProtKB/Swiss-Prot for FGFR3 Gene

  • 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.

Tocris Summary for FGFR3 Gene

  • Fibroblast growth factors (FGFs) (FGF1 - 10 and 16 - 23) are mitogenic signaling molecules that have roles in angiogenesis, wound healing, cell migration, neural outgrowth and embryonic development. FGFs bind heparan sulfate glycosaminoglycans (HSGAGs), which facilitates dimerization (activation) of FGF receptors (FGFRs). FGFRs are transmembrane catalytic receptors that have intracellular tyrosine kinase activity. There are four human genes encoding FGFRs, which produce seven different receptors (FGFR1b, FGFR1c, FGFR2b, FGFR2c, FGFR3b, FGFR3c and FGFR4) due to alternative splicing events occurring both in the extracellular and intracellular regions. The alternative splice isoforms are generally tissue specific: the b isoform is expressed in epithelial tissue, whereas the c isoform is expressed in mesenchymal tissue. HSGAG-FGF-FGFR binding initiates FGFR dimerization, enabling the cytoplasmic kinase domains to transphosphorylate tyrosine residues and become activated. HSGAGs also function to stabilize FGF-FGFR binding and prevent FGF degradation. FGFRs couple to the PLCgamma, MAPK and PI3-K/Akt intracellular signaling cascades and there is evidence of cross talk with the Notch signaling pathway. In addition, some activated FGF-FGFR complexes are endocytosed and function directly in the cytosol and/or nucleus of the cell. Mutations in FGFR genes are the cause of several human developmental disorders characterized by skeletal abnormalities such as achondroplasia, and upregulation of FGFR expression may lead to cell transformation and cancer.

Gene Wiki entry for FGFR3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGFR3 Gene

Genomics for FGFR3 Gene

Genomic Location for FGFR3 Gene

Start:
1,793,299 bp from pter
End:
1,808,872 bp from pter
Size:
15,574 bases
Orientation:
Plus strand

Genomic View for FGFR3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FGFR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGFR3 Gene

Regulatory Elements for FGFR3 Gene

Proteins for FGFR3 Gene

  • Protein details for FGFR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22607-FGFR3_HUMAN
    Recommended name:
    Fibroblast growth factor receptor 3
    Protein Accession:
    P22607
    Secondary Accessions:
    • D3DVP9
    • D3DVQ0
    • Q14308
    • Q16294
    • Q16608
    • Q59FL9

    Protein attributes for FGFR3 Gene

    Size:
    806 amino acids
    Molecular mass:
    87710 Da
    Quaternary structure:
    • Monomer. Homodimer after ligand binding. Interacts with FGF1, FGF2, FGF4, FGF6; FGF8, FGF9, FGF10, FGF17, FGF18, FGF19, FGF20 and FGF23 (in vitro). Interacts with KLB. Affinity for fibroblast growth factors (FGFs) is increased by heparan sulfate glycosaminoglycans that function as coreceptors. Likewise, KLB increases the affinity for FGF19 and FGF21. Interacts with PIK3R1, PLCG1, SOCS1 and SOCS3. Isoform 3 forms disulfide-linked dimers.
    SequenceCaution:
    • Sequence=BAD92678.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FGFR3 Gene

    Alternative splice isoforms for FGFR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FGFR3 Gene

Proteomics data for FGFR3 Gene at MOPED

Post-translational modifications for FGFR3 Gene

  • Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer. Phosphorylation at Tyr-724 is essential for stimulation of cell proliferation and activation of PIK3R1, STAT1 and MAP kinase signaling. Phosphorylation at Tyr-760 is required for interaction with PIK3R1 and PLCG1.
  • N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.
  • Ubiquitinated. Is rapidly ubiquitinated after ligand binding and autophosphorylation, leading to receptor internalization and degradation. Subject to both proteasomal and lysosomal degradation.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn98, Asn225, Asn262, Asn294, Asn315, and Asn328

Other Protein References for FGFR3 Gene

Domains for FGFR3 Gene

Gene Families for FGFR3 Gene

UniProtKB/Swiss-Prot:

FGFR3_HUMAN
Domain:
  • The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan sulfate proteoglycans.:
    • P22607
  • Contains 3 Ig-like C2-type (immunoglobulin-like) domains.:
    • P22607
  • Contains 1 protein kinase domain.:
    • P22607
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.:
    • P22607
genes like me logo Genes that share domains with FGFR3: view

Function for FGFR3 Gene

Molecular function for FGFR3 Gene

GENATLAS Biochemistry: fibroblast growth factor receptor 3,with two isoforms FGFRIIIb,FGFRIIIc,chicken embryo kinase (CEK) homolog,negative regulator of bone growth playing oncogenic role in bladder and cervix carcinomas
UniProtKB/Swiss-Prot CatalyticActivity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation: Present in an inactive conformation in the absence of bound ligand. Ligand binding leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by SU5402.
UniProtKB/Swiss-Prot Function: 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.

Enzyme Numbers (IUBMB) for FGFR3 Gene

Gene Ontology (GO) - Molecular Function for FGFR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004713 protein tyrosine kinase activity IDA 11294897
GO:0005007 fibroblast growth factor-activated receptor activity IMP 8663044
GO:0005515 protein binding IPI 14732692
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with FGFR3: view
genes like me logo Genes that share phenotypes with FGFR3: view

Animal Models for FGFR3 Gene

MGI Knock Outs for FGFR3:

miRNA for FGFR3 Gene

miRTarBase miRNAs that target FGFR3

No data available for Transcription Factor Targeting and HOMER Transcription for FGFR3 Gene

Localization for FGFR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGFR3 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle. Endoplasmic reticulum. Note=The activated receptor is rapidly internalized and degraded. Detected in intracellular vesicles after internalization of the autophosphorylated receptor.
Isoform 2: Cell membrane; Single-pass type I membrane protein.
Isoform 3: Secreted.
Isoform 4: Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FGFR3 Gene COMPARTMENTS Subcellular localization image for FGFR3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
extracellular 2
lysosome 2
nucleus 2
vacuole 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FGFR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm --
GO:0005764 lysosome IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with FGFR3: view

Pathways for FGFR3 Gene

SuperPathways for FGFR3 Gene

Superpath Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
2 PI-3K cascade
3 Signaling by FGFR
4 GPCR Pathway
5 Insulin receptor signalling cascade
genes like me logo Genes that share pathways with FGFR3: view

Pathways by source for FGFR3 Gene

Gene Ontology (GO) - Biological Process for FGFR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000165 MAPK cascade IEA --
GO:0001501 skeletal system development TAS 8601314
GO:0001938 positive regulation of endothelial cell proliferation IEA --
GO:0001958 endochondral ossification TAS 15748888
genes like me logo Genes that share ontologies with FGFR3: view

Compounds for FGFR3 Gene

(13) ApexBio Compounds for FGFR3 Gene

Compound Action Cas Number
AP26113 Dual inhibitor of anaplastic lymphoma kinase (ALK) and epidermal growth factor receptor (EGFR). [1197958-12-5]
AZD4547 Potent, selective, and ATP-competitive FGFR inhibitor [1035270-39-3]
BGJ398 FGFR inhibitor [872511-34-7]
Danusertib (PHA-739358) Pan-aurora kinase inhibitor [827318-97-8]
Dovitinib (TKI-258, CHIR-258) novel multitargeted growth factor receptor kinase inhibitor of FLT3, c-KIT, FGFR1/3, VEGFR1/2/3 [405169-16-6]
E-3810 novel dual inhibitor targeting VEGFRs and FGFRs [1058137-23-7]
Fenretinide synthetic retinoid deriverative. [65646-68-6]
LY2874455 novel and potent FGF/FGFR Inhibitor. [1254473-64-7]
Nintedanib (BIBF 1120) Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR [928326-83-4]
Pazopanib (GW-786034) Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR [635702-64-6]
PD 173074 Potent, ATP-competitive, and reversible FGFR inhibitor [219580-11-7]
Ponatinib (AP24534) pan-BCR-ABL inhibitor [943319-70-8]
SKLB610 Potent VEGFR inhibitor [1125780-41-7]

(4) Tocris Compounds for FGFR3 Gene

Compound Action Cas Number
FIIN 1 hydrochloride Potent, irreversible FGFR inhibitor [1256152-35-8]
PD 161570 Selective FGFR inhibitor [192705-80-9]
PD 173074 FGFR1 and -3 inhibitor [219580-11-7]
SU 5402 Potent FGFR and VEGFR inhibitor [215543-92-3]

(2) HMDB Compounds for FGFR3 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(3) Drugbank Compounds for FGFR3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Palifermin
  • FGF-7
162394-19-6 target
Pazopanib
  • GW-786034
444731-52-6 target inhibitor
Ponatinib
943319-70-8 target inhibitor

(24) Novoseek inferred chemical compound relationships for FGFR3 Gene

Compound -log(P) Hits PubMed IDs
pd 173074 86.9 10
su5402 71 7
tyrosine 63.1 79
bortezomib 43.5 1
thalidomide 28.4 10

(1) PharmGKB related drug/compound annotations for FGFR3 Gene

Drug/compound Annotation
pazopanib
genes like me logo Genes that share compounds with FGFR3: view

Transcripts for FGFR3 Gene

Unigene Clusters for FGFR3 Gene

Fibroblast growth factor receptor 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FGFR3 Gene

No ASD Table

Relevant External Links for FGFR3 Gene

GeneLoc Exon Structure for
FGFR3
ECgene alternative splicing isoforms for
FGFR3

Expression for FGFR3 Gene

mRNA expression in normal human tissues for FGFR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGFR3 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (6.2), Skin - Sun Exposed (Lower leg) (6.2), and Esophagus - Mucosa (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FGFR3 Gene

SOURCE GeneReport for Unigene cluster for FGFR3 Gene Hs.1420

mRNA Expression by UniProt/SwissProt for FGFR3 Gene

P22607-FGFR3_HUMAN
Tissue specificity: Expressed in brain, kidney and testis. Very low or no expression in spleen, heart, and muscle. In 20- to 22-week old fetuses it is expressed at high level in kidney, lung, small intestine and brain, and to a lower degree in spleen, liver, and muscle. Isoform 2 is detected in epithelial cells. Isoform 1 is not detected in epithelial cells. Isoform 1 and isoform 2 are detected in fibroblastic cells.
genes like me logo Genes that share expressions with FGFR3: view

Orthologs for FGFR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for FGFR3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FGFR3 36
  • 96.4 (n)
  • 95.78 (a)
FGFR3 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FGFR3 36
  • 89.44 (n)
  • 92.52 (a)
FGFR3 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FGFR3 36
  • 87.05 (n)
  • 91.11 (a)
FGFR3 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fgfr3 36
  • 85.63 (n)
  • 93.37 (a)
Fgfr3 16
Fgfr3 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FGFR3 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FGFR3 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fgfr3 36
  • 85.71 (n)
  • 93.12 (a)
chicken
(Gallus gallus)
Aves FGFR3 36
  • 74.74 (n)
  • 81.37 (a)
FGFR3 37
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8760 36
tropical clawed frog
(Silurana tropicalis)
Amphibia fgfr3 36
  • 69.64 (n)
  • 75.16 (a)
zebrafish
(Danio rerio)
Actinopterygii fgfr3 36
  • 71.41 (n)
  • 77.58 (a)
fgfr3 37
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta btl 37
  • 27 (a)
ManyToMany
htl 36
  • 52.96 (n)
  • 45.73 (a)
htl 37
  • 37 (a)
ManyToMany
btl 38
  • 36 (a)
tor 38
  • 52 (a)
htl 38
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-15 36
  • 45.17 (n)
  • 43.74 (a)
egl-15 37
  • 24 (a)
OneToMany
F59A3.8 38
  • 32 (a)
old-2 38
  • 36 (a)
ver-4 38
  • 29 (a)
ver-2 38
  • 36 (a)
R151.4 38
  • 37 (a)
R09D1.13 38
  • 29 (a)
kin-16 38
  • 34 (a)
egl-15 38
  • 39 (a)
kin-9 38
  • 37 (a)
ver-3 38
  • 28 (a)
F09G2.1 38
  • 30 (a)
F09A5.2 38
  • 36 (a)
C24G6.2a 38
  • 37 (a)
Y38H6C.20 38
  • 33 (a)
old-1 38
  • 34 (a)
R09D1.12 38
  • 31 (a)
W04G5.10 38
  • 35 (a)
Y50D4B.6 38
  • 33 (a)
kin-23 38
  • 33 (a)
C24G6.2b 38
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 42 (a)
OneToMany
Species with no ortholog for FGFR3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FGFR3 Gene

ENSEMBL:
Gene Tree for FGFR3 (if available)
TreeFam:
Gene Tree for FGFR3 (if available)

Paralogs for FGFR3 Gene

Paralogs for FGFR3 Gene

genes like me logo Genes that share paralogs with FGFR3: view

Variants for FGFR3 Gene

Sequence variations from dbSNP and Humsavar for FGFR3 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs736436 -- 1,792,461(-) GCTGG(A/G)GGTGC upstream-variant-2KB
rs743682 -- 1,796,125(+) CCTGA(A/G)TGATT intron-variant
rs743683 -- 1,797,005(-) CGGCG(C/G)CCCAA intron-variant
rs746779 -- 1,791,556(+) CCACA(C/T)GCATG upstream-variant-2KB
rs2121456 -- 1,808,623(+) GAGTT(C/T)TATAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FGFR3 Gene

Variant ID Type Subtype PubMed ID
nsv878328 CNV Loss 21882294
nsv878347 CNV Loss 21882294
dgv5408n71 CNV Loss 21882294
nsv822437 CNV Loss 20364138
dgv5414n71 CNV Loss 21882294
dgv1565e1 CNV Complex 17122850
nsv428434 CNV Gain 18775914
nsv508989 CNV Insertion 20534489
dgv5415n71 CNV Loss 21882294
dgv5416n71 CNV Loss 21882294
dgv5417n71 CNV Loss 21882294
nsv878400 CNV Loss 21882294
nsv829836 CNV Loss 17160897
dgv5418n71 CNV Loss 21882294
dgv5419n71 CNV Loss 21882294
nsv878417 CNV Loss 21882294

Relevant External Links for FGFR3 Gene

HapMap Linkage Disequilibrium report
FGFR3
Human Gene Mutation Database (HGMD)
FGFR3

Disorders for FGFR3 Gene

UniProtKB/Swiss-Prot

FGFR3_HUMAN
  • Achondroplasia (ACH) [MIM:100800]: A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. {ECO:0000269 PubMed:7758520, ECO:0000269 PubMed:7847369, ECO:0000269 PubMed:8078586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247]: Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala-391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance. {ECO:0000269 PubMed:17935505, ECO:0000269 PubMed:7493034}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thanatophoric dysplasia 1 (TD1) [MIM:187600]: A neonatal lethal skeletal dysplasia. Affected individuals manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs. {ECO:0000269 PubMed:10360402, ECO:0000269 PubMed:10671061, ECO:0000269 PubMed:7773297, ECO:0000269 PubMed:8589699, ECO:0000269 PubMed:8845844, ECO:0000269 PubMed:9790257}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thanatophoric dysplasia 2 (TD2) [MIM:187601]: A neonatal lethal skeletal dysplasia causing severe shortening of the limbs, narrow thorax and short ribs. Patients with thanatophoric dysplasia type 2 have straight femurs and cloverleaf skull. {ECO:0000269 PubMed:7773297}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypochondroplasia (HCH) [MIM:146000]: Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype. {ECO:0000269 PubMed:10215410, ECO:0000269 PubMed:10777366, ECO:0000269 PubMed:11055896, ECO:0000269 PubMed:12707965, ECO:0000269 PubMed:7670477, ECO:0000269 PubMed:9452043}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Bladder cancer (BLC) [MIM:109800]: A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. {ECO:0000269 PubMed:11314002}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Somatic mutations can constitutively activate FGFR3.
  • Cervical cancer (CERCA) [MIM:603956]: A malignant neoplasm of the cervix, typically originating from a dysplastic or premalignant lesion previously present at the active squamocolumnar junction. The transformation from mild dysplastic to invasive carcinoma generally occurs slowly within several years, although the rate of this process varies widely. Carcinoma in situ is particularly known to precede invasive cervical cancer in most cases. Cervical cancer is strongly associated with infection by oncogenic types of human papillomavirus. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]: Autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and/or mental retardation, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal. {ECO:0000269 PubMed:17033969}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple myeloma (MM) [MIM:254500]: A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. {ECO:0000269 PubMed:11529856, ECO:0000269 PubMed:9207791}. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving FGFR3 is found in multiple myeloma. Translocation t(4;14)(p16.3;q32.3) with the IgH locus.
  • Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]: An autosomal dominant ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Lacrimo-auriculo-dento-digital syndrome is characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. {ECO:0000269 PubMed:16501574}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]: Epidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood. {ECO:0000269 PubMed:16841094}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muenke syndrome (MNKS) [MIM:602849]: A condition characterized by premature closure of coronal suture of skull during development (coronal craniosynostosis), which affects the shape of the head and face. It may be uni- or bilateral. When bilateral, it is characterized by a skull with a small antero-posterior diameter (brachycephaly), often with a decrease in the depth of the orbits and hypoplasia of the maxillae. Unilateral closure of the coronal sutures leads to flattening of the orbit on the involved side (plagiocephaly). The intellect is normal. In addition to coronal craniosynostosis some affected individuals show skeletal abnormalities of hands and feet, sensorineural hearing loss, mental retardation and respiratory insufficiency. {ECO:0000269 PubMed:11746040, ECO:0000269 PubMed:9042914, ECO:0000269 PubMed:9950359}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Keratosis, seborrheic (KERSEB) [MIM:182000]: A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance. {ECO:0000269 PubMed:15772091}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Testicular germ cell tumor (TGCT) [MIM:273300]: A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. {ECO:0000269 PubMed:19855393}. Note=The gene represented in this entry may be involved in disease pathogenesis.

(82) Novoseek inferred disease relationships for FGFR3 Gene

Disease -log(P) Hits PubMed IDs
achondroplasia 97.3 153
thanatophoric dysplasia 97.1 95
hypochondroplasia 96.7 72
muenke syndrome 93.4 11
skeletal dysplasia 92.1 59

Relevant External Links for FGFR3

GeneTests
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GeneReviews
FGFR3
Genetic Association Database (GAD)
FGFR3
Human Genome Epidemiology (HuGE) Navigator
FGFR3
genes like me logo Genes that share disorders with FGFR3: view

Publications for FGFR3 Gene

  1. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. (PMID: 7493034) Meyers G.A. … Jabs E.W. (Nat. Genet. 1995) 3 4 23
  2. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. (PMID: 7670477) Bellus G.A. … Francomano C.A. (Nat. Genet. 1995) 3 4 23
  3. A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. (PMID: 7758520) Superti-Furga A. … Steinmann B. (Eur. J. Pediatr. 1995) 3 4 23
  4. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. (PMID: 7773297) Tavormina P.L. … Wasmuth J.J. (Nat. Genet. 1995) 3 4 23
  5. Achondroplasia is defined by recurrent G380R mutations of FGFR3. (PMID: 7847369) Bellus G.A. … Francomano C.A. (Am. J. Hum. Genet. 1995) 3 4 23

Products for FGFR3 Gene

  • Addgene plasmids for FGFR3

Sources for FGFR3 Gene

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