Gene Gene information from NCBI Gene database.
Entrez ID 53834
Gene name Fibroblast growth factor receptor like 1
Gene symbol FGFRL1
Synonyms (NCBI Gene)
FGFR-5FGFR5FHFR
Chromosome 4
Chromosome location 4p16.3
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 affini
miRNA miRNA information provided by mirtarbase database.
165
miRTarBase ID miRNA Experiments Reference
MIRT000153 hsa-miR-210-3p Luciferase reporter assay 19782034
MIRT000153 hsa-miR-210-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21044961
MIRT000153 hsa-miR-210-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21044961
MIRT000153 hsa-miR-210-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21044961
MIRT000153 hsa-miR-210-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21044961
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0003179 Process Heart valve morphogenesis IEA
GO:0005007 Function Fibroblast growth factor receptor activity IBA
GO:0005007 Function Fibroblast growth factor receptor activity IDA 12813049
GO:0005007 Function Fibroblast growth factor receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605830 3693 ENSG00000127418
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N441
Protein name Fibroblast growth factor receptor-like 1 (FGF receptor-like protein 1) (FGF homologous factor receptor) (FGFR-like protein) (Fibroblast growth factor receptor 5) (FGFR-5)
Protein function Has a negative effect on cell proliferation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 29 116 Immunoglobulin I-set domain Domain
PF07679 I-set 147 238 Immunoglobulin I-set domain Domain
PF13927 Ig_3 245 342 Domain
Tissue specificity 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. {ECO:0000269|PubMed:11031111, ECO:000026
Sequence
MTPSPLLLLLLPPLLLGAFPPAAAARGPPKMADKVVPRQVARLGRTVRLQCPVEGDPPPL
TMWTKDGRTIHSGWSRFRVLPQGLKVKQVEREDAGVYVCKATNGFGSLSVNYTLVV
LDDI
SPGKESLGPDSSSGGQEDPASQQWARPRFTQPSKMRRRVIARPVGSSVRLKCVASGHPRP
DITWMKDDQALTRPEAAEPRKKKWTLSLKNLRPEDSGKYTCRVSNRAGAINATYKVDV
IQ
RTRSKPVLTGTHPVNTTVDFGGTTSFQCKVRSDVKPVIQWLKRVEYGAEGRHNSTIDVGG
QKFVVLPTGDVWSRPDGSYLNKLLITRARQDDAGMYICLGAN
TMGYSFRSAFLTVLPDPK
PPGPPVASSSSATSLPWPVVIGIPAGAVFILGTLLLWLCQAQKKPCTPAPAPPLPGHRPP
GTARDRSGDKDLPSLAALSAGPGVGLCEEHGSPAAPQHLLGPGPVAGPKLYPKLYTDIHT
HTHTHSHTHSHVEGKVHQHIHYQC
Sequence length 504
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    FGFRL1 modulation of FGFR1 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
33
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
4p partial monosomy syndrome Benign; Likely benign; Uncertain significance rs201262483, rs1716385543 RCV002495461
RCV001199252
Congenital diaphragmatic hernia Uncertain significance rs753437773, rs759581394 RCV001281070
RCV001281071
FGFRL1-related disorder Benign; Likely benign; Uncertain significance rs4647942, rs4647933, rs4647946, rs4647931, rs138327840, rs549237929, rs200852436, rs373825808, rs200119815, rs145808953, rs201062727, rs144863877, rs116837147, rs58679007, rs78299800
View all (7 more)
RCV003983950
RCV003980636
RCV003966144
RCV003980625
RCV003913779
RCV003963804
RCV003963442
RCV003951726
RCV003926976
RCV003979125
RCV003964781
RCV003905844
RCV003906060
RCV003972888
RCV003910410
RCV003920639
RCV003932857
RCV003912851
RCV003923221
RCV003903023
RCV003977983
RCV003968408
RCV003960420
Flexion contracture Uncertain significance rs746384176 RCV001007784
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adamantinoma Associate 29241927
Brain Diseases Associate 31396565
Carcinoma Non Small Cell Lung Associate 31919528
Carcinoma Pancreatic Ductal Associate 34061869
Cleft Lip Associate 29241927
Colorectal Neoplasms Associate 25193853
Delayed Cranial Ossification due to CBFB Haploinsufficiency Associate 29241927
Esophageal Neoplasms Associate 37116156
Esophageal Squamous Cell Carcinoma Associate 21044961
Facial Dysmorphism with Multiple Malformations Associate 29241927