Human Gene FGFR3 (uc003gdq.3)
  Description: Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.
RefSeq Summary (NM_000142): 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].
Transcript (Including UTRs)
   Position: hg19 chr4:1,795,039-1,810,599 Size: 15,561 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chr4:1,795,662-1,809,015 Size: 13,354 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:1,795,039-1,810,599)mRNA (may differ from genome)Protein (792 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsGeneNetwork
HGNCLynxMalacardsMGIPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: F8W9L4_HUMAN
DESCRIPTION: RecName: Full=Fibroblast growth factor receptor; EC=2.7.10.1;
CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FGFR3
CDC HuGE Published Literature: FGFR3
Positive Disease Associations: bladder cancer , craniosynostosis , multiple myeloma , thanatophoric dysplasia
Related Studies:
  1. bladder cancer
    Hernandez, S. et al. 2006, Prospective study of FGFR3 mutations as a prognostic factor in nonmuscle invasive urothelial bladder carcinomas, J Clin Oncol 2006 24(22) 3664-71. [PubMed 16877735]
    The findings of this large study strongly support the notion that FGFR3 mutations characterize a subgroup of bladder cancers with good prognosis; patients with mutant TaG1 tumors have a higher risk of recurrence; and the F386L variant is selectively associated with low-grade tumors.
  2. craniosynostosis
    Moko SB et al. 2001, New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis., Journal of cranio-maxillo-facial surgery. 2001 Feb;29(1):22-4. [PubMed 11467490]
    Our data and those of other investigators suggest that we should begin integrating molecular diagnosis with phenotypic diagnosis of craniosynostoses.
  3. multiple myeloma
    Fracchiolla NS et al. 1998, FGFR3 gene mutations associated with human skeletal disorders occur rarely in multiple myeloma., Blood. 1998 Oct;92(8):2987-9. [PubMed 9763594]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: FGFR3
Diseases sorted by gene-association score: thanatophoric dysplasia, type i* (1790), achondroplasia* (1723), hypochondroplasia* (1711), ladd syndrome* (1673), catshl syndrome* (1668), muenke syndrome* (1558), crouzon syndrome with acanthosis nigricans* (1291), saddan* (1288), thanatophoric dysplasia, type ii* (1269), epidermal nevus, somatic* (1200), cervical cancer, somatic* (812), bladder cancer, somatic* (661), testicular germ cell tumor* (479), colorectal cancer* (362), craniosynostosis* (324), multiple myeloma* (257), saethre-chotzen syndrome* (252), keratosis, seborrheic, somatic* (229), schimmelpenning-feuerstein-mims syndrome, somatic mosaic* (200), fgfr3-related isolated coronal synostosis* (200), isolated brachycephaly* (175), isolated plagiocephaly* (175), giant cell glioblastoma* (143), gliosarcoma* (132), colonic benign neoplasm* (111), fgfr-related craniosynostosis syndromes* (100), fgfr3-related lacrimo-auriculo-dento-digital syndrome* (100), acanthosis nigricans (59), dwarfism (49), skeletal dysplasia (29), crouzon syndrome (29), plagiocephaly (28), dermatosis papulosa nigra (24), keratosis (22), pfeiffer syndrome (20), chiari malformation (19), skeletal dysplasia, san diego type (18), cherubism (16), skeletal dysplasias (16), bladder papillary transitional cell neoplasm (16), urinary tract papillary transitional cell benign neoplasm (16), non-invasive bladder papillary urothelial neoplasm (15), adenocarcinoma (15), synostosis (15), urinary bladder cancer (14), apert syndrome (14), osteochondroma (13), luteoma (12), jackson-weiss syndrome (12), leri-weill dyschondrosteosis (12), bone development disease (11), plasma cell leukemia (11), osteoglophonic dysplasia (10), osteochondrodysplasia (10), wolf-hirschhorn syndrome (10), bladder urothelial carcinoma (10), synovial chondromatosis (9), deafness, autosomal recessive 51 (9), beare-stevenson cutis gyrata syndrome (8), osteogenesis imperfecta, type ii (8), spondyloepiphyseal dysplasia with congenital joint dislocations (8), hydrocephalus (8), scoliosis (8), chondromyxoid fibroma (7), sed congenita (7), chromosome 2q35 duplication syndrome (7), chondroblastoma (7), chorioangioma (6), pigmentation disease (6), smoldering myeloma (6), acromesomelic dysplasia, maroteaux type (6), autosomal dominant disease (6), alcohol-related birth defect (5), polyhydramnios (5), hypertropia (5), porokeratosis (5), hemangioma of intra-abdominal structure (5), atelosteogenesis (4), adenosquamous cell lung carcinoma (4), metaphyseal chondrodysplasia, murk jansen type (4), transitional cell carcinoma (4), osteogenesis imperfecta, type i (4), acromesomelic dysplasia (4), autosomal dominant nonsyndromic deafness 6 (4), dowling-degos disease 1 (3), papilloma (3), lung cancer (2), strabismus (2), kabuki syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 153.44 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 1191.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -161.60256-0.631 Picture PostScript Text
3' UTR -654.431584-0.413 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2
IPR013151 - Immunoglobulin
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom
IPR008266 - Tyr_kinase_AS
IPR016248 - Tyr_kinase_fibroblast_GF_rcpt

Pfam Domains:
PF00047 - Immunoglobulin domain
PF00069 - Protein kinase domain
PF07679 - Immunoglobulin I-set domain
PF07714 - Protein tyrosine kinase
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin
56112 - Protein kinase-like (PK-like)

ModBase Predicted Comparative 3D Structure on F8W9L4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0005007 fibroblast growth factor-activated receptor activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity

Biological Process:
GO:0006468 protein phosphorylation
GO:0008284 positive regulation of cell proliferation
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0016310 phosphorylation
GO:0018108 peptidyl-tyrosine phosphorylation

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AB209441 - Homo sapiens mRNA for fibroblast growth factor receptor 3 isoform 1 precursor variant protein.
AF245114 - Homo sapiens fibroblast growth factor receptor 3 (FGFR3) mRNA, complete cds, alternatively spliced.
M58051 - Human fibroblast growth factor receptor (FGFR3) mRNA, complete cds.
JA667064 - Sequence 1 from Patent WO2011139842.
JA667065 - Sequence 2 from Patent WO2011139842.
JD124719 - Sequence 105743 from Patent EP1572962.
BC166684 - Synthetic construct Homo sapiens clone IMAGE:100066410, MGC:195547 fibroblast growth factor receptor 3 (FGFR3) mRNA, encodes complete protein.
AB527285 - Synthetic construct DNA, clone: pF1KB7015, Homo sapiens FGFR3 gene for fibroblast growth factor receptor 3, without stop codon, in Flexi system.
AB527276 - Synthetic construct DNA, clone: pF1KB4456, Homo sapiens FGFR3 gene for fibroblast growth factor receptor 3, without stop codon, in Flexi system.
KJ534834 - Homo sapiens clone FGFR3_iso-A_adult-A07 fibroblast growth factor receptor 3 isoform A (FGFR3) mRNA, partial cds, alternatively spliced.
KJ534974 - Homo sapiens clone FGFR3_iso-C_fetal-F09 fibroblast growth factor receptor 3 isoform C (FGFR3) mRNA, partial cds, alternatively spliced.
KJ535004 - Homo sapiens clone FGFR3_iso-B_adult-A12 fibroblast growth factor receptor 3 isoform B (FGFR3) mRNA, complete cds, alternatively spliced.
HM244683 - Homo sapiens fibroblast growth factor receptor 3 variant 4 (FGFR3) mRNA, complete cds, alternatively spliced.
M64347 - Human novel growth factor receptor mRNA, 3' cds.
AF369211 - Homo sapiens fibroblast growth factor receptor 3 IIIc isoform (FGFR3) mRNA, partial cds.
AF369212 - Homo sapiens fibroblast growth factor receptor 3 IIIc isoform (FGFR3) mRNA, partial cds.
AF369213 - Homo sapiens fibroblast growth factor receptor 3 IIIc isoform (FGFR3) mRNA, partial cds.
BC121175 - Homo sapiens fibroblast growth factor receptor 3, mRNA (cDNA clone IMAGE:40122515), partial cds.
BC128610 - Homo sapiens fibroblast growth factor receptor 3, mRNA (cDNA clone IMAGE:40122516), partial cds.
BC153824 - Homo sapiens fibroblast growth factor receptor 3, mRNA (cDNA clone IMAGE:40122517), partial cds.
M59374 - Human tyrosine kinase (JTK4) mRNA, partial cds.
AK308936 - Homo sapiens cDNA, FLJ98977.
AF238374 - Homo sapiens mutant fibroblast growth factor receptor 3 (FGFR3) mRNA, partial cds.
JD486078 - Sequence 467102 from Patent EP1572962.
JD127150 - Sequence 108174 from Patent EP1572962.
JD150736 - Sequence 131760 from Patent EP1572962.
JD543536 - Sequence 524560 from Patent EP1572962.
JD199327 - Sequence 180351 from Patent EP1572962.
JD108269 - Sequence 89293 from Patent EP1572962.
JD243662 - Sequence 224686 from Patent EP1572962.
JD451938 - Sequence 432962 from Patent EP1572962.
JD163504 - Sequence 144528 from Patent EP1572962.
JD347380 - Sequence 328404 from Patent EP1572962.
JD141711 - Sequence 122735 from Patent EP1572962.
JD537737 - Sequence 518761 from Patent EP1572962.
JD451089 - Sequence 432113 from Patent EP1572962.
JD471724 - Sequence 452748 from Patent EP1572962.
JD122711 - Sequence 103735 from Patent EP1572962.
JD142133 - Sequence 123157 from Patent EP1572962.
JD517278 - Sequence 498302 from Patent EP1572962.
JD232468 - Sequence 213492 from Patent EP1572962.
JD549482 - Sequence 530506 from Patent EP1572962.
JD446826 - Sequence 427850 from Patent EP1572962.
JD561836 - Sequence 542860 from Patent EP1572962.
MK542707 - Homo sapiens fibroblast growth factor receptor 3-S variant (FGFR3) mRNA, complete cds, alternatively spliced.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04144 - Endocytosis
hsa04810 - Regulation of actin cytoskeleton
hsa05200 - Pathways in cancer
hsa05219 - Bladder cancer

-  Other Names for This Gene
  Alternate Gene Symbols: AB209441, F8W9L4, F8W9L4_HUMAN
UCSC ID: uc003gdq.3
RefSeq Accession: NM_000142
Protein: F8W9L4 CCDS: CCDS3353.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FGFR3:
achondroplasia (Achondroplasia)
craniosynostosis (FGFR Craniosynostosis Syndromes Overview)
hypochondroplasia (Hypochondroplasia)
muenke (Muenke Syndrome)
td (Thanatophoric Dysplasia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AB209441.1
exon count: 17CDS single in 3' UTR: no RNA size: 4215
ORF size: 2379CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 4847.00frame shift in genome: no % Coverage: 99.88
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.