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
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: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 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Encephalocraniocutaneous Lipomatosis encephalocraniocutaneous lipomatosis rs779707422 N/A
Hypogonadotropic Hypogonadism hypogonadotropic hypogonadism rs121909628 N/A
Hypogonadotropic Hypogonadism With Or Without Anosmia Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia rs1586375906, rs886037634, rs727505370, rs267606805, rs121909636, rs397515446, rs727505371, rs1060499663, rs121909638, rs1554570706, rs515726223, rs727505373, rs727505376, rs121909639, rs515726224
View all (14 more)
N/A
Pfeiffer Syndrome pfeiffer syndrome rs121909627, rs376416531 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
craniosynostosis syndrome Craniosynostosis syndrome, Craniosynostosis, nonspecific N/A N/A ClinVar
Diabetes Type 2 diabetes N/A N/A GWAS
Hartsfield Syndrome Hartsfield-Bixler-Demyer syndrome N/A N/A GenCC
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease 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