Gene Gene information from NCBI Gene database.
Entrez ID 2260
Gene name Fibroblast growth factor receptor 1
Gene symbol FGFR1
Synonyms (NCBI Gene)
BFGFRCD331CEKECCLFGFBRFGFR-1FLGFLT-2FLT2HBGFRHH2HRTFDSKAL2N-SAMOGDbFGF-R-1
Chromosome 8
Chromosome location 8p11.23
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
SNPs SNP information provided by dbSNP.
99
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.
642
miRTarBase ID miRNA Experiments Reference
MIRT003228 hsa-miR-424-5p Luciferase reporter assay 20065103
MIRT006795 hsa-miR-16-5p Luciferase reporter assayqRT-PCRWestern blot 21885851
MIRT007113 hsa-miR-133b Luciferase reporter assayWestern blot 23296701
MIRT007113 hsa-miR-133b Luciferase reporter assayWestern blot 23296701
MIRT007113 hsa-miR-133b ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 23296701
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
E2F1 Activation 19303924
KLF10 Repression 23569208
RB1 Repression 19303924
SP1 Unknown 23569208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
138
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000165 Process MAPK cascade TAS 10748122
GO:0000166 Function Nucleotide binding IEA
GO:0001501 Process Skeletal system development TAS 7874169
GO:0001525 Process Angiogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
136350 3688 ENSG00000077782
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2104
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebellar vermis hypoplasia Likely pathogenic; Pathogenic rs1563436265 RCV000779636
Congenital cerebellar hypoplasia Likely pathogenic; Pathogenic rs1563436265 RCV001257986
Delayed puberty Likely pathogenic; Pathogenic rs727505370, rs727505371, rs727505373, rs121909628, rs121909636 RCV000156956
RCV000156958
RCV000156962
RCV000156954
RCV000156950
Diffuse midline glioma, H3 K27M-mutant Pathogenic rs779707422, rs869320694 RCV006253899
RCV006253907
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amenorrhea Uncertain significance rs2150824695 RCV001849751
Cervical cancer Benign; Likely benign rs17182296 RCV005899372
Colon adenocarcinoma Benign; Likely benign rs17182296 RCV005899370
Craniosynostosis syndrome Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs4647904, rs56234888, rs140382957, rs2915665, rs183394116, rs886062909, rs185104092, rs17182477, rs886062918, rs886062919, rs17175898, rs201054877, rs17175757, rs3213849, rs758524862
View all (123 more)
RCV000299729
RCV000356059
RCV000405061
RCV000343521
RCV000358861
RCV000375655
RCV000277998
RCV000388747
RCV000280193
RCV000295326
RCV000372366
RCV000386920
RCV000372980
RCV000275562
RCV000389400
RCV000403278
RCV000364448
RCV000396158
RCV000395308
RCV000269089
RCV000309610
RCV000282424
RCV000378790
RCV000302477
RCV000287737
RCV000304983
RCV000337400
RCV000268656
RCV000350262
RCV000265539
RCV000296217
RCV000301233
RCV000328450
RCV000366421
RCV000405118
RCV000265646
RCV000262394
RCV000361229
RCV000282106
RCV000405499
RCV000350094
RCV000377311
RCV000284588
RCV000386520
RCV000370856
RCV000279514
RCV000334242
RCV000306067
RCV000363531
RCV000327679
RCV000280453
RCV000405245
RCV000322103
RCV000323143
RCV000345174
RCV000335471
RCV000274882
RCV000298552
RCV000321287
RCV000335152
RCV000328758
RCV000315388
RCV000379458
RCV000342007
RCV000267795
RCV000345233
RCV000310087
RCV000386086
RCV000304934
RCV000291768
RCV000262308
RCV000283903
RCV000278211
RCV001161485
RCV001164856
RCV001163222
RCV001159835
RCV001165322
RCV001161246
RCV001162901
RCV001160071
RCV001159022
RCV001162017
RCV001160472
RCV001160475
RCV001164126
RCV001164129
RCV001159226
RCV001162193
RCV001160680
RCV001162292
RCV001162295
RCV001164326
RCV001159403
RCV001160774
RCV001164445
RCV001164448
RCV001160890
RCV001160893
RCV001159623
RCV001159626
RCV001162593
RCV001162597
RCV001164652
RCV001164657
RCV001159733
RCV001161132
RCV001161239
RCV001161240
RCV001164861
RCV001161359
RCV001162907
RCV001163006
RCV001165095
RCV001158382
RCV001163227
RCV001161821
RCV001163337
RCV001163341
RCV001165440
RCV001158713
RCV001161925
RCV001163447
RCV001158825
RCV001158828
RCV001160168
RCV001160173
RCV001163553
RCV001163558
RCV001163851
RCV001163856
RCV001160270
RCV001160272
RCV001163639
RCV001163952
RCV001159026
RCV001161355
RCV001164982
RCV001158600
Associations from Text MiningDisease associations identified through Pubtator
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