Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FGFRL1 Gene

Aliases for FGFRL1 Gene

  • Fibroblast Growth Factor Receptor-Like 1 2 3 5
  • Fibroblast Growth Factor Receptor 5 3 4
  • FGF Homologous Factor Receptor 3 4
  • FGF Receptor-Like Protein 1 3 4
  • FGFR-Like Protein 3 4
  • FGFR-5 3 4
  • FGFR5 3 4
  • FHFR 3 4

External Ids for FGFRL1 Gene

Previous GeneCards Identifiers for FGFRL1 Gene

  • GC04M001066
  • GC04P000994
  • GC04P000996

Summaries for FGFRL1 Gene

Entrez Gene Summary for FGFRL1 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]

GeneCards Summary for FGFRL1 Gene

FGFRL1 (Fibroblast Growth Factor Receptor-Like 1) is a Protein Coding gene. Diseases associated with FGFRL1 include Wolf-Hirschhorn Syndrome. Among its related pathways are MAPK Signaling: Mitogen Stimulation Pathway and mTOR signaling pathway (KEGG). GO annotations related to this gene include heparin binding and fibroblast growth factor-activated receptor activity.

UniProtKB/Swiss-Prot for FGFRL1 Gene

  • Has a negative effect on cell proliferation.

Gene Wiki entry for FGFRL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGFRL1 Gene

Genomics for FGFRL1 Gene

Regulatory Elements for FGFRL1 Gene

Enhancers for FGFRL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G000921 1.4 FANTOM5 Ensembl ENCODE 18.5 -86.1 -86118 4.0 TBL1XR1 NFXL1 ZBTB40 ZNF121 GLIS2 CBX5 SCRT2 ZNF143 ETV6 CREM FGFRL1 DGKQ SLC26A1 GAK PCGF3 PIGG TMEM175 UVSSA ZNF721 GC04M000897
GH04G001014 0.8 ENCODE 20.1 +5.1 5055 1.3 BCOR CTCF TFAP4 SAP130 ARID4B ZMYM3 RAD21 ZIC2 ZNF335 GLIS2 FGFRL1 SLC26A1 CRIPAK GC04M001024
GH04G001041 1.7 FANTOM5 Ensembl ENCODE dbSUPER 7.2 +31.9 31851 1.6 HDAC1 PKNOX1 ATF1 RB1 ZSCAN4 EGR1 EGR2 HDAC8 ZNF592 TGIF2 CRIPAK LOC100129917 ZNF141 CTBP1-AS2 ZNF718 ZNF876P ZNF732 LOC100288172 ABCA11P IDUA
GH04G001042 2 FANTOM5 Ensembl ENCODE dbSUPER 5.8 +34.2 34237 2.7 HDGF PKNOX1 CREB3L1 ARNT SIN3A ZNF2 ZNF766 CBX5 FOS KLF13 ZNF141 NELFA ZNF718 LOC100288172 ZNF732 LOC100129917 ZNF876P CTBP1-AS2 CRIPAK ABCA11P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FGFRL1 on UCSC Golden Path with GeneCards custom track

Promoters for FGFRL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000164754 -36 1001 AGO1 SIN3A ZNF48 ZNF143 ZNF263 SP5 ZNF610 KDM1A CTCF KLF1
ENSR00000308370 1964 1401 HDAC1 CBX3 RB1 ZFP64 ARID4B SIN3A KLF17 ZNF48 GLIS2 CBX5

Genomic Location for FGFRL1 Gene

1,009,936 bp from pter
1,026,898 bp from pter
16,963 bases
Plus strand

Genomic View for FGFRL1 Gene

Genes around FGFRL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGFRL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGFRL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGFRL1 Gene

Proteins for FGFRL1 Gene

  • Protein details for FGFRL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Fibroblast growth factor receptor-like 1
    Protein Accession:
    Secondary Accessions:
    • B2RAU9
    • Q6PJN1
    • Q9BXN7
    • Q9H4D7

    Protein attributes for FGFRL1 Gene

    504 amino acids
    Molecular mass:
    54537 Da
    Quaternary structure:
    • Interacts with FGF2 with a low affinity.

neXtProt entry for FGFRL1 Gene

Post-translational modifications for FGFRL1 Gene

  • Glycosylation at isoforms=111, Asn231, isoforms=255, and isoforms=293
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for FGFRL1 (FGF R5/FGFRL1)
  • Abcam antibodies for FGFRL1

No data available for DME Specific Peptides for FGFRL1 Gene

Domains & Families for FGFRL1 Gene

Suggested Antigen Peptide Sequences for FGFRL1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FGFRL1: view

No data available for UniProtKB/Swiss-Prot for FGFRL1 Gene

Function for FGFRL1 Gene

Molecular function for FGFRL1 Gene

UniProtKB/Swiss-Prot Function:
Has a negative effect on cell proliferation.

Gene Ontology (GO) - Molecular Function for FGFRL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005007 fibroblast growth factor-activated receptor activity IDA 12813049
GO:0008201 heparin binding IMP 18061161
GO:0017134 fibroblast growth factor binding IEA --
genes like me logo Genes that share ontologies with FGFRL1: view
genes like me logo Genes that share phenotypes with FGFRL1: view

Human Phenotype Ontology for FGFRL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGFRL1 Gene

MGI Knock Outs for FGFRL1:

Animal Model Products

  • Taconic Biosciences Mouse Models for FGFRL1

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGFRL1 Gene

Localization for FGFRL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGFRL1 Gene

Membrane; Single-pass type I membrane protein. Note=Predominantly localized in the plasma membrane but also detected in the Golgi and in secretory vesicles.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGFRL1 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
extracellular 2
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for FGFRL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 18061161
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030133 transport vesicle IDA 18061161
genes like me logo Genes that share ontologies with FGFRL1: view

Pathways & Interactions for FGFRL1 Gene

genes like me logo Genes that share pathways with FGFRL1: view

Pathways by source for FGFRL1 Gene

1 PharmGKB pathway for FGFRL1 Gene

Gene Ontology (GO) - Biological Process for FGFRL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0003179 heart valve morphogenesis IEA --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
GO:0034446 NOT substrate adhesion-dependent cell spreading IDA 18061161
genes like me logo Genes that share ontologies with FGFRL1: view

No data available for SIGNOR curated interactions for FGFRL1 Gene

Drugs & Compounds for FGFRL1 Gene

(2) Drugs for FGFRL1 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
LY2874455 Pharma FGF/FGFR Inhibitor 0

(1) ApexBio Compounds for FGFRL1 Gene

Compound Action Cas Number
LY2874455 FGF/FGFR Inhibitor 1254473-64-7
genes like me logo Genes that share compounds with FGFRL1: view

Drug Products

Transcripts for FGFRL1 Gene

Unigene Clusters for FGFRL1 Gene

Fibroblast growth factor receptor-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGFRL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
SP1: - - - -
SP2: - - -
SP4: -
SP5: -

Relevant External Links for FGFRL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FGFRL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FGFRL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FGFRL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FGFRL1 Gene:


SOURCE GeneReport for Unigene cluster for FGFRL1 Gene:


mRNA Expression by UniProt/SwissProt for FGFRL1 Gene:

Tissue specificity: Expressed preferentially in cartilaginous tissues and pancreas. Highly expressed in the liver, kidney, heart, brain and skeletal muscle. Weakly expressed in the lung, small intestine and spleen.

Evidence on tissue expression from TISSUES for FGFRL1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with FGFRL1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FGFRL1 Gene

Orthologs for FGFRL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FGFRL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia FGFRL1 34 35
  • 88.37 (n)
(Canis familiaris)
Mammalia LOC102151155 34
  • 88.26 (n)
  • 85 (a)
(Mus musculus)
Mammalia Fgfrl1 34 16 35
  • 85.52 (n)
(Rattus norvegicus)
Mammalia Fgfrl1 34
  • 85.44 (n)
(Monodelphis domestica)
Mammalia FGFRL1 35
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia FGFRL1 35
  • 76 (a)
(Gallus gallus)
Aves FGFRL1 34 35
  • 72.56 (n)
(Anolis carolinensis)
Reptilia FGFRL1 35
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fgfrl1 34
  • 67.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17937 34
(Danio rerio)
Actinopterygii fgfrl1a 34 35
  • 69.46 (n)
zgc64084 34
fruit fly
(Drosophila melanogaster)
Insecta CG31431 35
  • 23 (a)
(Caenorhabditis elegans)
Secernentea igcm-4 34 35
  • 41.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
Species where no ortholog for FGFRL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FGFRL1 Gene

Gene Tree for FGFRL1 (if available)
Gene Tree for FGFRL1 (if available)

Paralogs for FGFRL1 Gene

(6) SIMAP similar genes for FGFRL1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with FGFRL1: view

No data available for Paralogs for FGFRL1 Gene

Variants for FGFRL1 Gene

Sequence variations from dbSNP and Humsavar for FGFRL1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000129345 -- 1,017,283(+) TCGTT(C/T)GGCTG intron-variant
rs1000184487 -- 1,023,125(+) ACAGC(C/G)TGGTC intron-variant
rs1000284494 -- 1,010,887(+) GTCTA(C/T)TACGA upstream-variant-2KB
rs1000397629 -- 1,014,383(+) AATAA(C/T)TCTGA intron-variant
rs1000886618 -- 1,011,982(+) CGCGA(C/T)CCCAG intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for FGFRL1 Gene

Variant ID Type Subtype PubMed ID
dgv2703n106 CNV deletion 24896259
esv28049 CNV loss 19812545
nsv1003219 CNV gain 25217958
nsv1008352 CNV gain 25217958
nsv1073282 CNV deletion 25765185
nsv1120469 CNV tandem duplication 24896259
nsv1133572 CNV deletion 24896259
nsv469998 CNV loss 18288195
nsv593226 CNV loss 21841781
nsv593228 CNV loss 21841781
nsv593231 CNV gain 21841781
nsv593233 CNV loss 21841781
nsv593234 CNV loss 21841781
nsv593235 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv822428 CNV gain 20364138
nsv950328 CNV deletion 24416366

Variation tolerance for FGFRL1 Gene

Residual Variation Intolerance Score: 57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.40; 81.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FGFRL1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGFRL1 Gene

Disorders for FGFRL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FGFRL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
wolf-hirschhorn syndrome
  • 4p deletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FGFRL1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FGFRL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FGFRL1 Gene

Publications for FGFRL1 Gene

  1. Characterization of FGFRL1, a novel fibroblast growth factor (FGF) receptor preferentially expressed in skeletal tissues. (PMID: 12813049) Trueb B. … Wiedemann M. (J. Biol. Chem. 2003) 3 4 22 64
  2. A novel fibroblast growth factor receptor-5 preferentially expressed in the pancreas. (PMID: 11267671) Kim I. … Koh G.Y. (Biochim. Biophys. Acta 2001) 3 4 22 64
  3. Identification of a new fibroblast growth factor receptor, FGFR5. (PMID: 11418238) Sleeman M. … Murison J.G. (Gene 2001) 3 4 22 64
  4. Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. (PMID: 20024584) LopezJimenez N. … Slavotinek A.M. (Hum. Genet. 2010) 3 46 64
  5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu C.Y. … Christiani D.C. (Carcinogenesis 2010) 3 46 64

Products for FGFRL1 Gene

Sources for FGFRL1 Gene

Loading form....