Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2260
Gene name Gene Name - the full gene name approved by the HGNC.
Fibroblast growth factor receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FGFR1
Synonyms (NCBI Gene) Gene synonyms aliases
BFGFR, CD331, CEK, ECCL, FGFBR, FGFR-1, FLG, FLT-2, FLT2, HBGFR, HH2, HRTFDS, KAL2, N-SAM, OGD, bFGF-R-1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ECCL, HH2, HRTFDS, OGD
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p11.23
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121909627 G>C Pathogenic Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs121909628 G>A,C Risk-factor, pathogenic, likely-pathogenic Stop gained, coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs121909629 C>T Risk-factor Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121909630 C>A Pathogenic Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs121909631 T>C Pathogenic Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003228 hsa-miR-424-5p Luciferase reporter assay 20065103
MIRT006795 hsa-miR-16-5p Luciferase reporter assay, qRT-PCR, Western blot 21885851
MIRT007113 hsa-miR-133b Luciferase reporter assay, Western blot 23296701
MIRT007113 hsa-miR-133b Luciferase reporter assay, Western blot 23296701
MIRT007113 hsa-miR-133b Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 23296701
Transcription factors
Transcription factor Regulation Reference
E2F1 Activation 19303924
KLF10 Repression 23569208
RB1 Repression 19303924
SP1 Unknown 23569208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0001501 Process Skeletal system development TAS 7874169
GO:0001764 Process Neuron migration TAS 15863030
GO:0001837 Process Epithelial to mesenchymal transition IMP 26451614
GO:0004713 Function Protein tyrosine kinase activity IDA 8622701
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
136350 3688 ENSG00000077782
Protein
UniProt ID P11362
Protein name Fibroblast growth factor receptor 1 (FGFR-1) (EC 2.7.10.1) (Basic fibroblast growth factor receptor 1) (BFGFR) (bFGF-R-1) (Fms-like tyrosine kinase 2) (FLT-2) (N-sam) (Proto-oncogene c-Fgr) (CD antigen CD331)
Protein function Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm pa
PDB 1AGW , 1CVS , 1EVT , 1FGI , 1FGK , 1FQ9 , 1XR0 , 2CR3 , 2FGI , 3C4F , 3DPK , 3GQI , 3GQL , 3JS2 , 3KRJ , 3KRL , 3KXX , 3KY2 , 3OJV , 3RHX , 3TT0 , 4F63 , 4F64 , 4F65 , 4NK9 , 4NKA , 4NKS , 4RWI , 4RWJ , 4RWK , 4RWL , 4UWB , 4UWC , 4UWY , 4V01 , 4V04 , 4V05 , 4WUN , 4ZSA , 5A46 , 5A4C , 5AM6 , 5AM7 , 5B7V , 5EW8 , 5FLF , 5O49 , 5O4A , 5UQ0 , 5UR1 , 5VND
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00047 ig 38 116 Immunoglobulin domain Domain
PF07679 I-set 160 247 Immunoglobulin I-set domain Domain
PF07679 I-set 259 358 Immunoglobulin I-set domain Domain
PF18123 FGFR3_TM 370 400 Fibroblast growth factor receptor 3 transmembrane domain Domain
PF07714 PK_Tyr_Ser-Thr 478 754 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Detected in astrocytoma, neuroblastoma and adrenal cortex cell lines. Some isoforms are detected in foreskin fibroblast cell lines, however isoform 17, isoform 18 and isoform 19 are not detected in these cells. {ECO:0000269|PubMed:1652
Sequence
MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDD
VQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSV
NVSD
ALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPS
SGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSIN
HTYQLDV
VERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKI
GPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTV
LE
ALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKS
IPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVL
GKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGK
HKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDL
VSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNG
RLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMD
KPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDL
DRIVALTSNQEYLDLSMPLDQYSPSF
PDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR
Sequence length 822
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Hypogonadotropic Hypogonadism hypogonadotropic hypogonadism 2 with or without anosmia GenCC
Hartsfield Syndrome Hartsfield-Bixler-Demyer syndrome GenCC
Trigonocephaly isolated trigonocephaly GenCC
Tooth Agenesis tooth agenesis GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 23532954, 25129254, 28129408, 32510873
Adenocarcinoma Associate 22450065, 24255716, 24771645, 35461050
Adenocarcinoma of Lung Associate 18829480, 21666749, 28381877, 33219256, 39342926
Adenoma Oxyphilic Associate 24817936
Adenoma Pleomorphic Associate 20379686, 29135520, 33727696
Adenomatous Polyposis Coli Associate 34360002
Adrenal Gland Diseases Associate 19890272
Adrenocortical Carcinoma Associate 28972963, 34956100
Airway Obstruction Associate 34915763
Albinism Oculocutaneous Associate 30891959