Version: 8.0.0Date: Tue Jan 28 2025
Gene
FGFR3
- Species
- Homo sapiens
- Symbol
- FGFR3
- Name
- fibroblast growth factor receptor 3
- Synonyms
- ACH
- achondroplasia, thanatophoric dwarfism
- Biotype
- protein coding gene
- Automated Description
- Enables fibroblast growth factor binding activity; fibroblast growth factor receptor activity; and identical protein binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of intracellular signal transduction; and positive regulation of tyrosine phosphorylation of STAT protein. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and transport vesicle. Implicated in several diseases, including Human papillomavirus infectious disease; SADDAN; acanthosis nigricans; bone disease (multiple); and carcinoma (multiple). Biomarker of several diseases, including Merkel cell carcinoma; chronic myeloid leukemia; gastrointestinal system cancer (multiple); thanatophoric dysplasia; and urinary bladder cancer (multiple).
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24416
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr4:1793293...1808872 + (15.58 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.