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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


The information on this page was automatically extracted from online scientific databases.

What is the official name of the FGFRL1 gene?

The official name of this gene is “fibroblast growth factor receptor-like 1.”

FGFRL1 is the gene's official symbol. The FGFRL1 gene is also known by other names, listed below.

What is the normal function of the FGFRL1 gene?

From NCBI Gene (

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]

From UniProt (FGRL1_HUMAN) (

Has a negative effect on cell proliferation.

How are changes in the FGFRL1 gene related to health conditions?

NCBI Gene ( lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the FGFRL1 gene.
  • 4p partial monosomy syndrome (, a catalog designed for genetics professionals and researchers, provides the following information about the FGFRL1 gene and its association with health conditions.

Where is the FGFRL1 gene located?

Cytogenetic Location: 4p16

Molecular Location on chromosome 4: base pairs 1,009,979 to 1,026,898

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The FGFRL1 gene is located on the short (p) arm of chromosome 4 at position 16.

The FGFRL1 gene is located on the short (p) arm of chromosome 4 at position 16.

More precisely, the FGFRL1 gene is located from base pair 1,009,979 to base pair 1,026,898 on chromosome 4.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about FGFRL1?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the FGFRL1 gene or gene products?

  • FGFR5
  • FHFR

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding FGFRL1?

amino acid ; amino acid sequence ; cell ; cell proliferation ; differentiation ; domain ; evolution ; extracellular ; fibroblast ; gene ; gene product ; growth factor ; immunoglobulin ; kinase ; ligand ; monosomy ; proliferation ; protein ; receptor ; syndrome ; tissue ; transcript ; transmembrane ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Published: February 8, 2016