Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2263
Gene name Gene Name - the full gene name approved by the HGNC.
Fibroblast growth factor receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FGFR2
Synonyms (NCBI Gene) Gene synonyms aliases
BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.13
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities an
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs3135755 A>C Conflicting-interpretations-of-pathogenicity Intron variant, coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant
rs77543610 G>A,C Pathogenic, likely-pathogenic, uncertain-significance Intron variant, 5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs79184941 G>A,C Pathogenic, likely-pathogenic, benign-likely-benign Intron variant, 5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs121913474 A>G Uncertain-significance, likely-pathogenic 5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121913475 T>C Likely-pathogenic 5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006275 hsa-miR-19b-1-5p Luciferase reporter assay, Western blot 22197821
MIRT006275 hsa-miR-19b-1-5p Luciferase reporter assay, Western blot 22197821
MIRT006275 hsa-miR-19b-1-5p Luciferase reporter assay, Western blot 22197821
MIRT006275 hsa-miR-19b-1-5p Luciferase reporter assay, Western blot 22197821
MIRT006275 hsa-miR-19b-1-5p Luciferase reporter assay, Western blot 22197821
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 ISS
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis IBA
GO:0001525 Process Angiogenesis ISS
GO:0001657 Process Ureteric bud development ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176943 3689 ENSG00000066468
Protein
UniProt ID P21802
Protein name Fibroblast growth factor receptor 2 (FGFR-2) (EC 2.7.10.1) (K-sam) (KGFR) (Keratinocyte growth factor receptor) (CD antigen CD332)
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 cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic developm
PDB 1DJS , 1E0O , 1EV2 , 1GJO , 1II4 , 1IIL , 1NUN , 1OEC , 1WVZ , 2FDB , 2PSQ , 2PVF , 2PVY , 2PWL , 2PY3 , 2PZ5 , 2PZP , 2PZR , 2Q0B , 3B2T , 3CAF , 3CLY , 3CU1 , 3DAR , 3EUU , 3OJ2 , 3OJM , 3RI1 , 4J23 , 4J95 , 4J96 , 4J97 , 4J98 , 4J99 , 4WV1 , 5EG3 , 5UGL , 5UGX , 5UHN , 5UI0 , 6AGX , 6LVK , 6LVL , 6V6Q , 7KIA , 7KIE , 7OZY , 8E1X , 8H75 , 8STG , 8SWE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 162 248 Immunoglobulin I-set domain Domain
PF07679 I-set 260 359 Immunoglobulin I-set domain Domain
PF18123 FGFR3_TM 371 401 Fibroblast growth factor receptor 3 transmembrane domain Domain
PF07714 PK_Tyr_Ser-Thr 481 757 Protein tyrosine and serine/threonine kinase Domain
Sequence
MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEV
RCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYF
MVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCP
AGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSI
NHTYHLDV
VERSPHRPILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEKNGSK
YGPDGLPYLKVLKAAGVNTTDKEIEVLYIRNVTFEDAGEYTCLAGNSIGISFHSAWLTV
L
PAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTK
RIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDK
LTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKM
IGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTF
KDLVSCTYQLARGMEYLASQKCIHRDLAARNVLVTENNVMKIADFGLARDINNIDYYKKT
TNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIPVEELFKLLKEGH
RMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDL
DRILTLTTNEEYLDLSQPLEQYS
PSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT
Sequence length 821
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
Endocytosis
PI3K-Akt signaling pathway
Signaling pathways regulating pluripotency of stem cells
Regulation of actin cytoskeleton
Pathways in cancer
Prostate cancer
Gastric cancer
Central carbon metabolism in cancer
  PI3K Cascade
PIP3 activates AKT signaling
FGFR2c ligand binding and activation
FGFR2b ligand binding and activation
Signaling by FGFR2 amplification mutants
Activated point mutants of FGFR2
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade; FGFR2
PI-3K cascade:FGFR2
SHC-mediated cascade:FGFR2
FRS-mediated FGFR2 signaling
Negative regulation of FGFR2 signaling
Signaling by FGFR2 in disease
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Signaling by FGFR2 fusions
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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
craniosynostosis syndrome Craniosynostosis syndrome, Craniosynostosis, nonspecific rs121918491, rs1057519046, rs121918487 N/A
fgfr2-related craniosynostosis FGFR2-related craniosynostosis rs387906676, rs121918488, rs1057519038, rs1589722765, rs79184941, rs121918502, rs1845559552, rs121918506, rs121913478, rs121918491, rs1057519036, rs1850289942, rs776587763, rs121918504, rs121918507
View all (27 more)
N/A
FGFR2-Related Craniosynostosis Beare-Stevenson cutis gyrata syndrome rs121913478, rs121913477, rs1554930637 N/A
Jackson-Weiss Syndrome jackson-weiss syndrome rs121918492, rs121918487, rs121918497, rs121918488 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
Antley-Bixler Syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Antley-Bixler syndrome N/A N/A GenCC
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Bent Bone Dysplasia bent bone dysplasia syndrome 1 N/A N/A GenCC
Breast cancer Breast cancer in BRCA2 mutation carriers, Breast cancer (early onset), Breast cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Pain Associate 32203698
Abnormalities Drug Induced Associate 11315998
Achondroplasia Associate 10712195, 17525745, 22879958
Acrocephalosyndactylia Associate 10329600, 10658283, 10712195, 11315998, 11337381, 11341328, 11390973, 11781872, 15282208, 15840724, 16418739, 16470531, 16906598, 16951439, 17525745
View all (30 more)
Adenocarcinoma Associate 26315110, 26933914, 28640357, 31249137, 35405716, 36416959, 36856760
Adenocarcinoma of Lung Associate 18829480, 22975805, 32036070, 38071755, 39342926
Adenocarcinoma Scirrhous Associate 23545898, 8440743
Adenoma Inhibit 23977259
Adenoma Chromophobe Associate 23444225
Adenoma Pleomorphic Associate 33727696