Version: 8.0.0Date: Tue Jan 28 2025
Gene
FGFR2
- Species
- Homo sapiens
- Symbol
- FGFR2
- Name
- fibroblast growth factor receptor 2
- Synonyms
- bacteria-expressed kinase
- BBDS
- Biotype
- protein coding gene
- Automated Description
- Enables fibroblast growth factor binding activity; fibroblast growth factor receptor activity; and protein homodimerization activity. Involved in several processes, including embryonic cranial skeleton morphogenesis; negative regulation of keratinocyte proliferation; and protein phosphorylation. Located in several cellular components, including cell cortex; cell surface; and collagen-containing extracellular matrix. Implicated in several diseases, including Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; breast cancer (multiple); gastrointestinal system cancer (multiple); and synostosis (multiple). Biomarker of several diseases, including Kaposi's sarcoma; carcinoma (multiple); idiopathic pulmonary fibrosis; primary pulmonary hypertension; and prostate cancer.
- RGD Description
- The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists 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 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR44170
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
- Chr10:121478330...121598458 - (120.13 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.