FGFRL1 fibroblast growth factor receptor like 1
Gene ID: 53834, updated on 2-Nov-2024Gene type: protein coding
Also known as: FHFR; FGFR5; FGFR-5
- See all available tests in GTR for this gene
- Go to complete Gene record for FGFRL1
- Go to Variation Viewer for FGFRL1 variants
Summary
The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) 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 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. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 4p partial monosomy syndrome | not available |
| Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2013-08-01) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2013-08-01) ClinGen Genome Curation Page |
Genomic context
- Location:
- 4p16.3
- Sequence:
- Chromosome: 4; NC_000004.12 (1010212..1026898)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FGFRL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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