FGFRL1
Fibroblast Growth Factor Receptor Like 1
Gene Information Card
| Symbol | FGFRL1 |
|---|---|
| Full Name | Fibroblast Growth Factor Receptor Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 53834 ncbi.nlm.nih.gov/gene/53834 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q8N441 |
| OMIM ID | 605830 |
| HGNC ID | 3695 |
| Aliases | FGFR5, FGFRL1, FLJ22407 |
Description
FGFRL1 (Fibroblast Growth Factor Receptor Like 1) is a protein-coding gene that encodes a member of the fibroblast growth factor receptor (FGFR) family. Unlike classical FGFRs, FGFRL1 lacks an intracellular tyrosine kinase domain and is thought to act as a decoy receptor or modulator of FGF signaling. It is involved in cell proliferation, differentiation, and development, particularly in skeletal and craniofacial morphogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniosynostosis | Loss-of-function mutations in FGFRL1 disrupt FGF signaling, leading to premature fusion of cranial sutures. | ClinVar, OMIM |
| LADD syndrome (Lacrimo-auriculo-dento-digital syndrome) | Heterozygous missense variants impair receptor function, affecting FGF-mediated development of lacrimal, salivary, and limb structures. | ClinVar, OMIM |
| Multiple synostoses syndrome | Mutations in FGFRL1 alter joint formation and bone fusion, likely through dominant-negative effects on FGF signaling. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Lung | 4.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.2 | Cervical adenocarcinoma |
| A549 | 3.8 | Lung carcinoma |
| HEK293 | 2.9 | Embryonic kidney |
| MCF7 | 1.5 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1024C>T (p.Arg342*) | Nonsense | <0.01% | Loss of function; associated with craniosynostosis |
| c.1135G>A (p.Gly379Arg) | Missense | <0.01% | Dominant negative; linked to LADD syndrome |
| c.1462C>T (p.Arg488Trp) | Missense | <0.01% | Gain of function; reported in multiple synostoses syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, reducing or abolishing FGF binding and signaling inhibition.
Gain of Function (GOF)
Missense mutations that enhance receptor stability or alter ligand specificity, leading to aberrant FGF signaling.
Dominant Negative (DN)
Mutations that produce a non-functional receptor that interferes with wild-type FGFRs, disrupting normal signaling.
View complete mutation data：
Gene Ontology (GO)
| • fibroblast growth factor binding | • fibroblast growth factor receptor activity |
| • heparin binding | • plasma membrane |
| • signal transduction | • cell proliferation |
| • negative regulation of cell growth |
Pathways
• FGF signaling pathway
• MAPK signaling pathway
• PI3K-Akt signaling pathway
• Ras signaling pathway
Protein Summary
The FGFRL1 protein is a 504-amino acid transmembrane receptor with three extracellular immunoglobulin-like domains, a transmembrane domain, and a short intracellular tail lacking a tyrosine kinase domain. It binds FGF ligands and heparan sulfate proteoglycans, modulating FGF signaling by sequestering ligands or forming inactive heterodimers with other FGFRs. FGFRL1 is highly expressed in skeletal muscle and heart and plays critical roles in embryonic development, particularly in bone and joint formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGFRL1 Knockout HEK293 Cell Line | EDJ-KQ11355 | Human | 53834 | Details Get a Quote |
| FGFRL1 Knockout HCT 116 Cell Line | EDJ-KQ38204 | Human | 53834 | Details Get a Quote |
| FGFRL1 Knockout A-549 Cell Line | EDJ-KQ39532 | Human | 53834 | Details Get a Quote |
| FGFRL1 Knockout HeLa Cell Line | EDJ-KQ39533 | Human | 53834 | Details Get a Quote |
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