FGFR3
Sign in to saveAlso known as ACH, CD333, CEK2, HSFGFR3EX, JTK4, fibroblast growth factor receptor 3
protein-coding gene in the species Homo sapiens
Gene data
FGFR3- Name
- fibroblast growth factor receptor 3
- Type
- protein-coding
- Position
- 1,793,286–1,808,873 (+)
- Aliases
- ACH, CD333, CEK2, HSFGFR3EX, JTK4
- Ensembl
- ENSG00000068078
- RefSeq RNA
- NM_000142.5, NM_001163213.2, NM_001354809.2, NM_001354810.2, NM_022965.4
- RefSeq protein
- NP_000133.1, NP_001156685.1, NP_001341738.1, NP_001341739.1, NP_075254.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
fibroblast growth factor receptor 3
- Symbol
- FGFR3
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 4:1,793,286-1,808,873
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Research
4,117 papers- Role of FGFR3 in bladder cancer: Treatment landscape and future challenges.Cancer treatment reviews · 2023
- FGFR3 alterations in bladder cancer: Sensitivity and resistance to targeted therapies.Cancer communications (London, England) · 2024
- FGFR3-TACCs3 Fusions and Their Clinical Relevance in Human Glioblastoma.International journal of molecular sciences · 2022
- Discovery of TYRA-300: First Oral Selective FGFR3 Inhibitor for the Treatment of Urothelial Cancers and Achondroplasia.Journal of medicinal chemistry · 2024
- FGFR3 autoantibodies in sensory neuronopathy.Journal of neurology, neurosurgery, and psychiatry · 2020
via PubMed
Wikidata facts
Show 6 more facts
- HomoloGene ID
- 55437
- exact match
- identifiers.org/ncbigene/2261
- genomic end
- 1810599
- genomic start
- 1793293
- cytogenetic location
- 4p16.3
- Commons category
- Fibroblast growth factor receptor 3
via Wikidata · CC0