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FGFR3 Gene(Protein Coding)

Fibroblast Growth Factor Receptor 3

GCID:
GC04P001795
GIFtS:
63
Genes Participants
UDN Logo

Aliases for FGFR3 Gene

Aliases for FGFR3 Gene

  • Fibroblast Growth Factor Receptor 3 2 3 3 5
  • FGFR-3 3 4
  • JTK4 3 4
  • Fibroblast Growth Factor Receptor 3 Variant 4 3
  • Achondroplasia, Thanatophoric Dwarfism 2
  • Hydroxyaryl-Protein Kinase 3
  • Tyrosine Kinase JTK4 3
  • CD333 Antigen 4
  • EC 2.7.10.1 4
  • HSFGFR3EX 3
  • CD333 3
  • CEK2 3
  • ACH 3

External Ids for FGFR3 Gene

Previous HGNC Symbols for FGFR3 Gene

  • ACH

Previous GeneCards Identifiers for FGFR3 Gene

  • GC04P001787
  • GC04P001757
  • GC04P001762
  • GC04P001725

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. [provided by RefSeq, Aug 2017]

CIViC summary for FGFR3 Gene

  • The FGFR proteins are involved in a wide array of pathways known to play a signficant role in cancer. Activation of these receptors can lead to activation of the RAS-MAPK pathway and the PI3K-AKT pathway, among others. The mechanisms by which FGFR can be misregulated vary between cancers. Amplification of the receptors has been observed in lung and breast cancers, coding mutations and deletions have been seen in many cancers, and more recently, FGFR fusions that lead to pathway actiation have been demonstrated to have oncogenic potential across multiple cancer types. The targeted therapeutics ponatinib, dovitinib and pazopanib have seen success in treating over-active FGFR signalling, prompting use of diagnostic sequencing targeting the FGFR genes, especially in lung cancer patients.

GeneCards Summary for FGFR3 Gene

FGFR3 (Fibroblast Growth Factor Receptor 3) is a Protein Coding gene. Diseases associated with FGFR3 include Achondroplasia and Thanatophoric Dysplasia, Type I. Among its related pathways are ERK Signaling and Akt Signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is FGFR2.

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) are mitogenic signaling molecules that have roles in angiogenesis, wound healing, cell migration, neural outgrowth and embryonic development. FGF receptors (FGFRs) are transmembrane catalytic receptors with intracellular tyrosine kinase activity.

Gene Wiki entry for FGFR3 Gene

Additional gene information for FGFR3 Gene

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

Genomics for FGFR3 Gene

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GeneHancer (GH) Regulatory Elements for FGFR3 Gene

Promoters and enhancers for FGFR3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J001792 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 661.7 +4.6 4597 10.4 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 PAF1 ZNF263 FGFR3 RNF4 FAM193A ENSG00000270195 NELFA GAK IDUA HAUS3 MAEA CRIPAK
GH04J001775 Enhancer 1.4 Ensembl ENCODE dbSUPER 8.5 -15.1 -15098 4.4 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 SLC30A9 GLIS2 ZNF143 TMEM129 FGFR3 ENSG00000270195 GC04M001751
GH04J001784 Enhancer 1.2 ENCODE dbSUPER 8.4 -8.3 -8296 1.3 HDGF PKNOX1 ATF1 FOXA2 MLX ARNT ARID4B DMAP1 ZNF48 TCF12 FGFR3 TMEM129 ENSG00000270195 FAM53A GC04M001751
GH04J001757 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5.5 -32.5 -32541 7 HDGF PKNOX1 ARID4B RAD21 ZNF48 GLIS2 EGR2 SP5 KAT8 ZNF148 ENSG00000270195 TMEM129 FAM53A SLBP FGFR3 GC04M001751
GH04J001816 Enhancer 0.5 dbSUPER 13.3 +23.4 23392 0.4 SP1 HNF4A RAD21 EGR2 FGFR3 TACC3 TMEM129 GC04M001809 GC04M001823 LETM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FGFR3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FGFR3 gene promoter:

Genomic Locations for FGFR3 Gene

Genomic Locations for FGFR3 Gene
chr4:1,793,293-1,808,872
(GRCh38/hg38)
Size:
15,580 bases
Orientation:
Plus strand
chr4:1,795,034-1,810,599
(GRCh37/hg19)

Genomic View for FGFR3 Gene

Genes around FGFR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGFR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGFR3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FGFR3 Gene

Proteins for FGFR3 Gene

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  • 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

Protein Expression for FGFR3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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.
  • Ubiquitinated. Is rapidly ubiquitinated after ligand binding and autophosphorylation, leading to receptor internalization and degradation. Subject to both proteasomal and lysosomal degradation.
  • N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.
  • Glycosylation at isoforms=4328, isoforms=4315, Asn294, isoforms=2, 3, 4262, isoforms=2, 3, 4225, and Asn98
  • Modification sites at PhosphoSitePlus

Other Protein References for FGFR3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FGFR3 Gene

Domains & Families for FGFR3 Gene

Gene Families for FGFR3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for FGFR3 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FGFR3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22607

UniProtKB/Swiss-Prot:

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

Function for FGFR3 Gene

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Molecular function for FGFR3 Gene

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.
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.
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

Enzyme Numbers (IUBMB) for FGFR3 Gene

Gene Ontology (GO) - Molecular Function for FGFR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004709 MAP kinase kinase kinase activity IBA --
GO:0004713 protein tyrosine kinase activity TAS --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IBA,IEA --
genes like me logo Genes that share ontologies with FGFR3: view
genes like me logo Genes that share phenotypes with FGFR3: view

Human Phenotype Ontology for FGFR3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGFR3 Gene

MGI Knock Outs for FGFR3:

Animal Model Products

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No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGFR3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
nucleus 3
cytoskeleton 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

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 IEA,IBA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005794 Golgi apparatus IDA 18061161
genes like me logo Genes that share ontologies with FGFR3: view

Pathways & Interactions for FGFR3 Gene

SuperPathways for FGFR3 Gene

PathCards logo More details on SuperPathways for FGFR3
SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Apoptotic Pathways in Synovial Fibroblasts
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
Rac1 Pathway
.65
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
3 GPCR Pathway
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
4 PI3K/AKT activation
Negative regulation of the PI3K/AKT network
.93
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
.93
PIP3 activates AKT signaling
.91
Role of LAT2/NTAL/LAB on calcium mobilization
.91
GAB1 signalosome
.89
PI3K/AKT activation
.89
Constitutive Signaling by Aberrant PI3K in Cancer
.75
PI3K/AKT Signaling in Cancer
.72
5 Downstream signaling of activated FGFR2
Downstream signaling of activated FGFR3
.88
Signaling by FGFR3 in disease
.88
Signaling by FGFR3 point mutants in cancer
.88
FRS-mediated FGFR3 signaling
.01
Phospholipase C-mediated cascade; FGFR3
.01
PI-3K cascade-FGFR3
.01
SHC-mediated cascade-FGFR3
.01
Signaling by FGFR3 fusions in cancer
.01
genes like me logo Genes that share pathways with FGFR3: view

SIGNOR curated interactions for FGFR3 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for FGFR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001501 skeletal system development TAS 8601314
GO:0001958 endochondral ossification TAS 15748888
GO:0002062 chondrocyte differentiation TAS 15748888
GO:0003416 endochondral bone growth TAS 15748888
genes like me logo Genes that share ontologies with FGFR3: view

Drugs & Compounds for FGFR3 Gene

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(68) Drugs for FGFR3 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pazopanib Approved Pharma Target, inhibitor VEFGR, c-Kit, and PDGFR inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
Nintedanib Approved Pharma inhibitor, Target VEGFR, FGFR, PDGFR, and FLT3 inhibitor, Kinase Inhibitors 126
Palifermin Approved Pharma binder, Target 0
Ponatinib Approved, Investigational Pharma inhibitor, Target Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors 36
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0

(9) Additional Compounds for FGFR3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0

(3) Tocris Compounds for FGFR3 Gene

Compound Action Cas Number
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

(17) ApexBio Compounds for FGFR3 Gene

Compound Action Cas Number
ACTB-1003 939805-30-8
AZD4547 FGFR inhibitor 1035270-39-3
BGJ398 FGFR inhibitor ,potent and selective 872511-34-7
BIBF 1120 VEGFR/PDGF/FGFR inhibitor 656247-17-5
CH5183284 (Debio-1347) 1265229-25-1
Danusertib (PHA-739358) Pan-aurora kinase inhibitor 827318-97-8
Dovitinib (TKI258) Lactate Oral tyrosine kinase inhibitor (TKI) against FGFR1–3, VEGFR1–3, and platelet-derived growth factor receptor (PDGFR) 915769-50-5
Dovitinib (TKI-258, CHIR-258) Multitargeted RTK inhibitor 405169-16-6
LY2874455 FGF/FGFR Inhibitor 1254473-64-7
Nintedanib (BIBF 1120) VEGFR/PDGFR/FGFR inhibitor 928326-83-4
NVP-BGJ398 phosphate FGFR inhibitor 1310746-10-1
Pazopanib (GW-786034) VEGFR/PDGFR/FGFR inhibitor 635702-64-6
Pazopanib Hydrochloride VEGFR/PDGFR/FGFR/c-Kit/ c-Fms inhibitor 635702-64-6
PD 161570 192705-80-9
PD 173074 FGFR inhibitor 219580-11-7
Regorafenib Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1 755037-03-7
Vandetanib (ZD6474) VEGFR2/EGFR antagonist 443913-73-3
genes like me logo Genes that share compounds with FGFR3: view

Drug Products

Transcripts for FGFR3 Gene

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mRNA/cDNA for FGFR3 Gene

(132) Selected AceView cDNA sequences:
(15) Additional mRNA sequences :
(12) REFSEQ mRNAs :
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FGFR3 Gene

Fibroblast growth factor receptor 3:
Representative Sequences:

Clone Products

  • Addgene plasmids for FGFR3

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

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FGFR3 Gene

mRNA expression in normal human tissues for FGFR3 Gene
mRNA expression by GTEx for FGFR3 GenemRNA expression by BioGPS 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) (x6.2), Skin - Sun Exposed (Lower leg) (x6.2), and Esophagus - Mucosa (x4.4).

Protein differential expression in normal tissues from HIPED for FGFR3 Gene

This gene is overexpressed in Frontal cortex (39.5), Testis (16.2), and Fetal ovary (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FGFR3 Gene



Protein tissue co-expression partners for FGFR3 Gene

NURSA nuclear receptor signaling pathways regulating expression of FGFR3 Gene:

FGFR3

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.

Evidence on tissue expression from TISSUES for FGFR3 Gene

  • Skin(4.6)
  • Nervous system(4.5)
  • Bone(2.5)
  • Bone marrow(2.2)
  • Kidney(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FGFR3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lacrimal apparatus
  • larynx
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • salivary gland
  • scalp
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns 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 34 33
  • 96.4 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia FGFR3 34 33
  • 89.44 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia FGFR3 34 33
  • 87.05 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Fgfr3 33
  • 85.71 (n)
mouse
(Mus musculus)
 Mammalia Fgfr3 16 34 33
  • 85.63 (n)
oppossum
(Monodelphis domestica)
 Mammalia FGFR3 34
  • 84 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia FGFR3 34
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FGFR3 34 33
  • 74.74 (n)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fgfr3 33
  • 69.64 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.8760 33
zebrafish
(Danio rerio)
 Actinopterygii fgfr3 34 33 33
  • 71.41 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta htl 34 35 33
  • 52.96 (n)
 ManyToMany
tor 35
  • 52 (a)
btl 34 35
  • 27 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea egl-15 34 35 33
  • 45.17 (n)
 OneToMany
kin-9 35
  • 37 (a)
C24G6.2a 35
  • 37 (a)
R151.4 35
  • 37 (a)
C24G6.2b 35
  • 37 (a)
old-2 35
  • 36 (a)
ver-2 35
  • 36 (a)
F09A5.2 35
  • 36 (a)
W04G5.10 35
  • 35 (a)
old-1 35
  • 34 (a)
kin-16 35
  • 34 (a)
Y50D4B.6 35
  • 33 (a)
Y38H6C.20 35
  • 33 (a)
kin-23 35
  • 33 (a)
F59A3.8 35
  • 32 (a)
R09D1.12 35
  • 31 (a)
F09G2.1 35
  • 30 (a)
ver-4 35
  • 29 (a)
R09D1.13 35
  • 29 (a)
ver-3 35
  • 28 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 42 (a)
 OneToMany
Species where no ortholog for FGFR3 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FGFR3: view image

Paralogs for FGFR3 Gene

Paralogs for FGFR3 Gene

(94) SIMAP similar genes for FGFR3 Gene using alignment to 12 proteins:

  • FGFR3_HUMAN
  • A0N9W0_HUMAN
  • A8E633_HUMAN
  • F8W9L4_HUMAN
  • I6LM06_HUMAN
  • Q0IJ44_HUMAN
  • Q8NI15_HUMAN
  • Q8NI16_HUMAN
  • Q96T34_HUMAN
  • Q96T35_HUMAN
  • Q96T36_HUMAN
  • Q9NRB6_HUMAN

Pseudogenes.org Pseudogenes for FGFR3 Gene

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

Variants for FGFR3 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for FGFR3 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs104886004 not-provided, Sarcoma 1,806,101(+) C/T coding_sequence_variant, synonymous_variant
rs104886005 not-provided, Sarcoma 1,806,122(+) C/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs104886006 not-provided, Sarcoma 1,806,149(+) C/G/T coding_sequence_variant, synonymous_variant
rs104886023 not-provided, Neoplasm of ovary 1,806,644(+) G/T coding_sequence_variant, missense_variant
rs104886024 not-provided, Sarcoma 1,806,650(+) G/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv8901n54 CNV loss 21841781
dgv8902n54 CNV loss 21841781
esv2759218 CNV gain 17122850
nsv1074132 CNV deletion 25765185
nsv1112845 CNV deletion 24896259
nsv428434 CNV gain 18775914
nsv508989 CNV insertion 20534489
nsv593339 CNV loss 21841781
nsv829836 CNV loss 17160897
nsv949756 CNV deletion 24416366

Variation tolerance for FGFR3 Gene

Residual Variation Intolerance Score: 21.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FGFR3 Gene

Human Gene Mutation Database (HGMD)
FGFR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGFR3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGFR3 Gene

Disorders for FGFR3 Gene

MalaCards: The human disease database

(99) MalaCards diseases for FGFR3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards