Human Gene FGFR3 (ENST00000412135.7) from GENCODE V44
  Description: fibroblast growth factor receptor 3 (from HGNC FGFR3)
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].
Gencode Transcript: ENST00000412135.7
Gencode Gene: ENSG00000068078.20
Transcript (Including UTRs)
   Position: hg38 chr4:1,793,293-1,808,872 Size: 15,580 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg38 chr4:1,793,935-1,807,262 Size: 13,328 Coding Exon Count: 17 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
GeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:1,793,293-1,808,872)mRNA (may differ from genome)Protein (802 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIPubMedUniProtKBWikipedia

-  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


-  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

-  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 -185.80275-0.676 Picture PostScript Text
3' UTR -646.501610-0.402 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.

-  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
Genome BrowserGenome BrowserNo orthologGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGD EnsemblWormBase 
Protein SequenceProtein Sequence Protein SequenceProtein Sequence 
AlignmentAlignment AlignmentAlignment 

-  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.
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: A0A7I2RW32, AB209441, ENST00000412135.1, ENST00000412135.2, ENST00000412135.3, ENST00000412135.4, ENST00000412135.5, ENST00000412135.6, uc003gds.1, uc003gds.2, uc003gds.3, uc003gds.4
UCSC ID: ENST00000412135.7
RefSeq Accession: NM_000142
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)

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