Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
53834
Gene name Gene Name - the full gene name approved by the HGNC.
Fibroblast growth factor receptor like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FGFRL1
Synonyms (NCBI Gene) Gene synonyms aliases
FGFR-5, FGFR5, FHFR
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.3
Summary Summary of gene provided in NCBI Entrez 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 affini
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000153 hsa-miR-210-3p Luciferase reporter assay 19782034
MIRT000153 hsa-miR-210-3p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21044961
MIRT000153 hsa-miR-210-3p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21044961
MIRT000153 hsa-miR-210-3p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21044961
MIRT000153 hsa-miR-210-3p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21044961
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005007 Function Fibroblast growth factor-activated receptor activity IBA 21873635
GO:0005007 Function Fibroblast growth factor-activated receptor activity IDA 12813049
GO:0005794 Component Golgi apparatus IDA 18061161
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane IDA 12813049, 18061161
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605830 3693 ENSG00000127418
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Axenfeld anomaly Rieger eye malformation sequence rs104893857, rs1560590094, rs104893858, rs1198152064, rs104893859, rs104893860, rs121909249, rs104893862, rs104893957, rs104893951, rs104893952, rs104893953, rs121909339, rs387906810, rs372857241
View all (33 more)
Congenital diaphragmatic hernia Congenital diaphragmatic hernia rs121908602, rs121908604, rs864309713, rs775394591 20938900
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Diabetes Diabetes GWAS
Gout Gout GWAS
Atrial Fibrillation Atrial Fibrillation GWAS
Associations from Text Mining
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