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 immunog... See more...

Aliases for FGFR3 Gene

Aliases for FGFR3 Gene

  • Fibroblast Growth Factor Receptor 3 2 3 4 5
  • JTK4 2 3 4
  • EC 2.7.10.1 4 51
  • FGFR-3 3 4
  • CD333 2 3
  • CEK2 2 3
  • Fibroblast Growth Factor Receptor 3 Variant 4 3
  • Achondroplasia, Thanatophoric Dwarfism 2
  • Fibroblast Growth Factor Receptor 3-S 3
  • Hydroxyaryl-Protein Kinase 3
  • Tyrosine Kinase JTK4 3
  • CD333 Antigen 4
  • HSFGFR3EX 3
  • EC 2.7.10 51
  • FGFR3 5
  • 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 Hypochondroplasia. Among its related pathways are RET signaling and Signaling by GPCR. 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 Summary 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

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FGFR3 Gene

Genomics for FGFR3 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 611.6 +4.6 4597 10.4 HNRNPL GATAD2A TEAD4 SOX13 KDM1A FOXA1 MTA2 ZIC2 RBFOX2 RXRB FGFR3 RNF4 IDUA UVSSA HAUS3 NELFA GAK CTBP1-DT MAEA ENSG00000270195
GH04J001784 Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 8.5 -8.3 -8296 1.3 HNRNPL GATAD2A LEF1 IKZF1 JUND DDX20 MTA2 RBFOX2 PKNOX1 RXRB FGFR3 TMEM129 ENSG00000207009 FAM53A HSALNG0032320
GH04J001775 Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 8.5 -15.1 -15098 4.4 HNRNPL GATAD2A ZBTB33 TEAD4 TFE3 NFKBIZ KDM1A RCOR2 RBFOX2 RXRB HSALNG0032320 TMEM129 FGFR3 ENSG00000207009
GH04J001782 Enhancer 0.7 Ensembl 8.5 -10.8 -10835 0.5 HNRNPL GATAD2A RCOR2 IRF2 PBX2 TGIF2 PKNOX1 BCOR SAP130 POLR2A FGFR3 ENSG00000207009 HSALNG0032320 TMEM129
GH04J001816 Enhancer 0.4 dbSUPER 13.3 +23.4 23392 0.4 SP1 RAD21 HNF4A EGR2 FGFR3 TMEM129 TACC3 RF00017-4246 lnc-TMEM129-2 LETM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FGFR3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FGFR3

Top Transcription factor binding sites by QIAGEN in the FGFR3 gene promoter:
  • AP-1
  • NF-1
  • NF-1/L
  • STAT1
  • STAT3

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)
Size:
15,566 bases
Orientation:
Plus strand

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 StructureGene Density

RefSeq DNA sequence 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=Extended N-terminus.; 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

Selected DME Specific Peptides for FGFR3 Gene

P22607:
  • SHHSAWL
  • WEIFTLGGSP
  • QVARGME
  • RDLAARN
  • GPLYVLVEYA
  • NIINLLG
  • WSLVMES
  • MRECWHA
  • LGKPLGEGCFGQV
  • NVSELELP
  • VAVKMLK
  • PFEQYSP
  • LPVKWMA
  • EDAGEYTCLAGNSIG
  • PVEELFKLLKEGHRMD
  • TFKDLVSC
  • EGHRMDKP
  • LVEDLDR
  • EALFDRVYT
  • VMKIADFGLAR
  • SSGDDED
  • PSQRPTFKQLVE
  • LRARRPP
  • MESVVPSD
  • AARNVLV
  • SGDDSVF
  • NTVRFRC
  • PHIQWLK
  • GEHRIGGI
  • SEMEMMK
  • CIHRDLAARNVLV
  • AVPAANT
  • DYSFDTCK
  • CKVYSDAQPH
  • PVKWMAPE
  • PILQAGLPAN
  • YTHQSDVWS
  • LDVLERS
  • ERSPHRPILQAGLP
  • ARGMEYLAS

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 Asn98, Asn225, Asn262, Asn294, Asn315, and Asn328
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for FGFR3

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

Protein Domains for FGFR3 Gene

Suggested Antigen Peptide Sequences for FGFR3 Gene

GenScript: Design optimal peptide antigens:
  • Fibroblast growth factor receptor (A0N9W0_HUMAN)
  • FGFR3 protein (A8E633_HUMAN)
  • Fibroblast growth factor receptor 3 (FGFR3_HUMAN)
  • FGFR3 protein (Q0IJ44_HUMAN)
  • Fibroblast growth factor receptor 3 (Q8NI15_HUMAN)

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

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:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10028, ECO:0000269|PubMed:12297284, ECO:0000269|PubMed:17145761};.
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

Phenotypes From GWAS Catalog 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:0004713 protein tyrosine kinase activity IDA 11294897
GO:0004714 transmembrane receptor protein tyrosine kinase activity IBA 21873635
GO:0005007 fibroblast growth factor-activated receptor activity IBA,IMP 8663044
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGFR3

Clone Products

  • Addgene plasmids for FGFR3

No data available for 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 4
cytoskeleton 2
mitochondrion 2
cytosol 2
lysosome 2
peroxisome 1
endosome 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 --
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

PathCards logo

SuperPathways for FGFR3 Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.62
.61
.60
.57
.57
3 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
.38
4 GAB1 signalosome
5 Downstream signaling of activated FGFR2
genes like me logo Genes that share pathways with FGFR3: view

Pathways by source for FGFR3 Gene

60 Qiagen pathways for FGFR3 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
2 Cell Signaling Technology pathways for FGFR3 Gene

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
erdafitinib Approved, Investigational Pharma Target, inhibitor 0
Nintedanib Approved Pharma Target, inhibitor VEGFR, FGFR, PDGFR, and FLT3 inhibitor, Kinase Inhibitors 145
Palifermin Approved Pharma Target, binder 0
Ponatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors 57
Tyrosine Approved, Investigational Nutra 1044

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

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

(16) 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
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

Transcripts for FGFR3 Gene

mRNA/cDNA for FGFR3 Gene

5 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGFR3

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

Expression for FGFR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Nervous system(4.7)
  • Kidney(2.9)
  • Bone(2.7)
  • Blood(2.7)
  • Intestine(2.7)
  • Bone marrow(2.6)
  • Pancreas(2.6)
  • Liver(2.5)
  • Muscle(2.5)
  • Eye(2.5)
  • Heart(2.4)
  • Lung(2.4)
  • Urine(2.2)
  • Stomach(2.1)
  • Thyroid gland(2.1)

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 30 31
  • 96.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FGFR3 30 31
  • 89.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FGFR3 30 31
  • 87.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fgfr3 30
  • 85.71 (n)
Mouse
(Mus musculus)
Mammalia Fgfr3 30 17 31
  • 85.63 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FGFR3 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FGFR3 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FGFR3 30 31
  • 74.74 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fgfr3 30
  • 69.64 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8760 30
Zebrafish
(Danio rerio)
Actinopterygii fgfr3 30 31
  • 71.41 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta htl 30 31 32
  • 52.96 (n)
ManyToMany
tor 32
  • 52 (a)
btl 31 32
  • 27 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea egl-15 30 31 32
  • 45.17 (n)
OneToMany
kin-9 32
  • 37 (a)
C24G6.2a 32
  • 37 (a)
C24G6.2b 32
  • 37 (a)
R151.4 32
  • 37 (a)
F09A5.2 32
  • 36 (a)
old-2 32
  • 36 (a)
ver-2 32
  • 36 (a)
W04G5.10 32
  • 35 (a)
old-1 32
  • 34 (a)
kin-16 32
  • 34 (a)
Y38H6C.20 32
  • 33 (a)
Y50D4B.6 32
  • 33 (a)
kin-23 32
  • 33 (a)
F59A3.8 32
  • 32 (a)
R09D1.12 32
  • 31 (a)
F09G2.1 32
  • 30 (a)
ver-4 32
  • 29 (a)
R09D1.13 32
  • 29 (a)
ver-3 32
  • 28 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToMany
Species where no ortholog for FGFR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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

Variants for FGFR3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FGFR3 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
643460 Uncertain Significance: Craniosynostosis 1,806,665(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
649812 Pathogenic: Craniosynostosis 1,803,813(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
651478 Uncertain Significance: Craniosynostosis 1,807,254(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
667904 Benign: not provided 1,802,650(+) G/A INTRON_VARIANT
668209 Likely Benign: not provided 1,801,602(+) G/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for FGFR3 Gene

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

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