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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
4p partial monosomy syndrome Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absence of septum pellucidum Absence Of Septum Pellucidum HPO_DG
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 23775577, 28861329
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 31396565 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24548884
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 23775577, 28861329
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 34061869 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 29675438
★☆☆☆☆
Found in Text Mining only
Cleft Lip Cleft lip Pubtator 29241927 Associate
★☆☆☆☆
Found in Text Mining only
Cleft palate and bilateral cleft lip Cleft Palate And Bilateral Cleft Lip BEFREE 29241927
★☆☆☆☆
Found in Text Mining only