Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2263
Gene name	Fibroblast growth factor receptor 2
Gene symbol	FGFR2
Synonyms (NCBI Gene)	BBDSBEKBFR-1CD332CEK3CFD1ECT1JWSK-SAMKGFRTK14TK25
Chromosome	10
Chromosome location	10q26.13
Summary	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

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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
rs121913476	A>C,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121913477	G>C,T	Pathogenic, likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121913478	T>C	Pathogenic, likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918487	C>A,G,T	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918488	A>C,G,T	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918489	A>G	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918490	G>C	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918491	C>T	Pathogenic	5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs121918492	G>C	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918493	T>C	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918494	G>C	Pathogenic, likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918495	T>G	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918496	G>C	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918497	T>G	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918498	CG>AA	Likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918499	C>A,G	Pathogenic, likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918500	T>C	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918501	A>C,G	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918502	G>C	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918503	GTC>-	Pathogenic	Inframe deletion, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs121918504	C>A,T	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918505	A>G	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918506	T>C,G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121918507	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121918508	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121918509	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121918510	T>G	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs281865420	GCG>AGA	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs387906676	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs387906677	A>C	Pathogenic	Missense variant, coding sequence variant, initiator codon variant, non coding transcript variant, intron variant
rs387906678	A>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs387907372	GGC>AAG	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs776587763	C>A,T	Pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs777169135	T>C,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs794727163	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs879253718	ACCACT>-	Pathogenic	Coding sequence variant, inframe deletion, intron variant, non coding transcript variant, 5 prime UTR variant
rs879253719	C>T	Pathogenic	Intron variant, splice acceptor variant
rs879253720	TCT>-	Pathogenic	Non coding transcript variant, coding sequence variant, inframe indel
rs879253721	T>C	Pathogenic	Intron variant
rs886037837	CGTGCTTGATCCACTGGA>-	Pathogenic	Coding sequence variant, intron variant, inframe indel, non coding transcript variant, 5 prime UTR variant
rs1057519036	A>C	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519037	GC>AA,TA	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519038	T>C	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519039	C>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519040	T>C	Pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519041	T>C	Pathogenic	Splice acceptor variant, intron variant
rs1057519042	T>C	Pathogenic-likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519043	C>A,G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519044	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519045	T>G	Drug-response, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519046	TT>AG	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519047	T>C,G	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519791	G>C	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1057519795	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519796	A>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519797	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519798	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519799	C>A,G,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519800	C>A,G,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519854	A>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519900	C>T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519901	T>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057520027	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057520028	T>C	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057520029	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057520044	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064796413	A>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064796452	T>C	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1358919643	C>A,T	Pathogenic	5 prime UTR variant, intron variant, non coding transcript variant, missense variant, coding sequence variant
rs1434545235	T>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, missense variant
rs1554907337	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1554914180	GT>TC	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1554917471	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1554927408	C>T	Pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1554928884	T>C	Pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1554928978	CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC>-	Likely-pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant, splice acceptor variant, coding sequence variant
rs1554930637	AGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATCCACTGGATGTGGGGC>-	Pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant, inframe deletion, coding sequence variant
rs1564875577	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1564919048	C>A	Pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1589722765	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1589828632	CGGCGGCCTA>GGT	Pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant, 5 prime UTR variant, intron variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006275	hsa-miR-19b-1-5p	Luciferase reporter assayWestern blot	22197821
MIRT006275	hsa-miR-19b-1-5p	Luciferase reporter assayWestern blot	22197821
MIRT006275	hsa-miR-19b-1-5p	Luciferase reporter assayWestern blot	22197821
MIRT006275	hsa-miR-19b-1-5p	Luciferase reporter assayWestern blot	22197821
MIRT006275	hsa-miR-19b-1-5p	Luciferase reporter assayWestern blot	22197821
MIRT006275	hsa-miR-19b-1-5p	Luciferase reporter assayWestern blot	22197821
MIRT006678	hsa-miR-125b-5p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	21412257
MIRT023494	hsa-miR-1-3p	Microarray	18668037
MIRT044917	hsa-miR-186-5p	CLASH	23622248
MIRT734592	hsa-miR-223-3p	Immunohistochemistry (IHC)In situ hybridization	31533233
MIRT734595	hsa-miR-431-3p	Immunohistochemistry (IHC)In situ hybridization	31533233
MIRT996063	hsa-miR-1302	CLIP-seq
MIRT996064	hsa-miR-3122	CLIP-seq
MIRT996065	hsa-miR-33a	CLIP-seq
MIRT996066	hsa-miR-33b	CLIP-seq
MIRT996067	hsa-miR-3913-5p	CLIP-seq
MIRT996068	hsa-miR-4298	CLIP-seq
MIRT996069	hsa-miR-103a	CLIP-seq
MIRT996070	hsa-miR-107	CLIP-seq
MIRT996071	hsa-miR-15a	CLIP-seq
MIRT996072	hsa-miR-15b	CLIP-seq
MIRT996073	hsa-miR-16	CLIP-seq
MIRT996074	hsa-miR-195	CLIP-seq
MIRT996075	hsa-miR-2277-3p	CLIP-seq
MIRT996076	hsa-miR-3660	CLIP-seq
MIRT996077	hsa-miR-424	CLIP-seq
MIRT996078	hsa-miR-4310	CLIP-seq
MIRT996079	hsa-miR-4526	CLIP-seq
MIRT996080	hsa-miR-497	CLIP-seq
MIRT996081	hsa-miR-2110	CLIP-seq
MIRT996082	hsa-miR-3144-5p	CLIP-seq
MIRT996083	hsa-miR-3150a-3p	CLIP-seq
MIRT996084	hsa-miR-3166	CLIP-seq
MIRT996085	hsa-miR-3191	CLIP-seq
MIRT996086	hsa-miR-4260	CLIP-seq
MIRT996087	hsa-miR-4271	CLIP-seq
MIRT996088	hsa-miR-4514	CLIP-seq
MIRT996089	hsa-miR-4652-5p	CLIP-seq
MIRT996090	hsa-miR-4667-5p	CLIP-seq
MIRT996091	hsa-miR-4692	CLIP-seq
MIRT996092	hsa-miR-4699-5p	CLIP-seq
MIRT996093	hsa-miR-4700-5p	CLIP-seq
MIRT996094	hsa-miR-4725-3p	CLIP-seq
MIRT996095	hsa-miR-106a	CLIP-seq
MIRT996096	hsa-miR-106b	CLIP-seq
MIRT996097	hsa-miR-1234	CLIP-seq
MIRT996098	hsa-miR-1299	CLIP-seq
MIRT996099	hsa-miR-150	CLIP-seq
MIRT996100	hsa-miR-17	CLIP-seq
MIRT996101	hsa-miR-197	CLIP-seq
MIRT996102	hsa-miR-20a	CLIP-seq
MIRT996103	hsa-miR-20b	CLIP-seq
MIRT996104	hsa-miR-302a	CLIP-seq
MIRT996105	hsa-miR-302b	CLIP-seq
MIRT996106	hsa-miR-302c	CLIP-seq
MIRT996107	hsa-miR-302d	CLIP-seq
MIRT996108	hsa-miR-302e	CLIP-seq
MIRT996109	hsa-miR-3187-3p	CLIP-seq
MIRT996110	hsa-miR-3663-5p	CLIP-seq
MIRT996111	hsa-miR-372	CLIP-seq
MIRT996112	hsa-miR-373	CLIP-seq
MIRT996113	hsa-miR-4252	CLIP-seq
MIRT996114	hsa-miR-433	CLIP-seq
MIRT996115	hsa-miR-4435	CLIP-seq
MIRT996116	hsa-miR-4438	CLIP-seq
MIRT996117	hsa-miR-4454	CLIP-seq
MIRT996118	hsa-miR-4527	CLIP-seq
MIRT996119	hsa-miR-4701-5p	CLIP-seq
MIRT996120	hsa-miR-4716-5p	CLIP-seq
MIRT996121	hsa-miR-4731-5p	CLIP-seq
MIRT996122	hsa-miR-4755-3p	CLIP-seq
MIRT996123	hsa-miR-4763-5p	CLIP-seq
MIRT996124	hsa-miR-4781-3p	CLIP-seq
MIRT996125	hsa-miR-5095	CLIP-seq
MIRT996126	hsa-miR-5096	CLIP-seq
MIRT996127	hsa-miR-512-3p	CLIP-seq
MIRT996128	hsa-miR-519d	CLIP-seq
MIRT996129	hsa-miR-520a-3p	CLIP-seq
MIRT996130	hsa-miR-520b	CLIP-seq
MIRT996131	hsa-miR-520c-3p	CLIP-seq
MIRT996132	hsa-miR-520d-3p	CLIP-seq
MIRT996133	hsa-miR-520e	CLIP-seq
MIRT996134	hsa-miR-520g	CLIP-seq
MIRT996135	hsa-miR-520h	CLIP-seq
MIRT996136	hsa-miR-548s	CLIP-seq
MIRT996137	hsa-miR-588	CLIP-seq
MIRT996138	hsa-miR-875-3p	CLIP-seq
MIRT996139	hsa-miR-93	CLIP-seq
MIRT996069	hsa-miR-103a	CLIP-seq
MIRT996070	hsa-miR-107	CLIP-seq
MIRT996071	hsa-miR-15a	CLIP-seq
MIRT996072	hsa-miR-15b	CLIP-seq
MIRT996073	hsa-miR-16	CLIP-seq
MIRT996074	hsa-miR-195	CLIP-seq
MIRT996075	hsa-miR-2277-3p	CLIP-seq
MIRT996077	hsa-miR-424	CLIP-seq
MIRT996078	hsa-miR-4310	CLIP-seq
MIRT2229443	hsa-miR-4719	CLIP-seq
MIRT996080	hsa-miR-497	CLIP-seq
MIRT2680987	hsa-miR-1281	CLIP-seq
MIRT2680988	hsa-miR-1297	CLIP-seq
MIRT2680989	hsa-miR-26a	CLIP-seq
MIRT2680990	hsa-miR-26b	CLIP-seq
MIRT2680991	hsa-miR-4465	CLIP-seq
MIRT2680992	hsa-miR-4707-5p	CLIP-seq
MIRT2680993	hsa-miR-671-3p	CLIP-seq

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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
GO:0001701	Process	In utero embryonic development	ISS
GO:0001837	Process	Epithelial to mesenchymal transition	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	ISS
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003149	Process	Membranous septum morphogenesis	ISS
GO:0003416	Process	Endochondral bone growth	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	NAS	1697263
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005007	Function	Fibroblast growth factor receptor activity	IBA
GO:0005007	Function	Fibroblast growth factor receptor activity	IDA	8663044, 15629145
GO:0005007	Function	Fibroblast growth factor receptor activity	IEA
GO:0005007	Function	Fibroblast growth factor receptor activity	IGI	10830168
GO:0005007	Function	Fibroblast growth factor receptor activity	NAS	1400433, 1697263, 8676562
GO:0005515	Function	Protein binding	IPI	1309608, 9700203, 10618369, 10830168, 11069186, 11390973, 12591959, 22726438, 23597563, 24440983, 25241761, 26267536, 33961781, 35384245
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IDA	16597614, 17471512
GO:0005737	Component	Cytoplasm	IDA	16597614, 17471512
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15629145, 16844695
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IDA	17471512
GO:0006915	Process	Apoptotic process	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007409	Process	Axonogenesis	ISS
GO:0008201	Function	Heparin binding	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	8663044
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IGI	8663044
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	15629145
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IDA	8663044, 15629145
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IGI	8663044
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IPI	10830168
GO:0008589	Process	Regulation of smoothened signaling pathway	ISS
GO:0009791	Process	Post-embryonic development	ISS
GO:0009880	Process	Embryonic pattern specification	ISS
GO:0009887	Process	Animal organ morphogenesis	ISS
GO:0009986	Component	Cell surface	IDA	17959718
GO:0009986	Component	Cell surface	IDA	16597614
GO:0009986	Component	Cell surface	IEA
GO:0010518	Process	Positive regulation of phospholipase activity	IMP	16844695
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IMP	21412257
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	1697263, 8676562
GO:0016301	Function	Kinase activity	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0017134	Function	Fibroblast growth factor binding	IBA
GO:0017134	Function	Fibroblast growth factor binding	IDA	8663044
GO:0017134	Function	Fibroblast growth factor binding	IEA
GO:0017134	Function	Fibroblast growth factor binding	IPI	8386828, 11923311, 19224135
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	15629145, 16844695
GO:0021769	Process	Orbitofrontal cortex development	ISS
GO:0021847	Process	Ventricular zone neuroblast division	ISS
GO:0021860	Process	Pyramidal neuron development	ISS
GO:0022612	Process	Gland morphogenesis	ISS
GO:0030177	Process	Positive regulation of Wnt signaling pathway	ISS
GO:0030282	Process	Bone mineralization	ISS
GO:0030324	Process	Lung development	ISS
GO:0030855	Process	Epithelial cell differentiation	ISS
GO:0030901	Process	Midbrain development	ISS
GO:0030916	Process	Otic vesicle formation	ISS
GO:0031069	Process	Hair follicle morphogenesis	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032808	Process	Lacrimal gland development	ISS
GO:0033688	Process	Regulation of osteoblast proliferation	IEA
GO:0033688	Process	Regulation of osteoblast proliferation	TAS	15190072
GO:0035265	Process	Organ growth	ISS
GO:0035602	Process	Fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell	ISS
GO:0035603	Process	Fibroblast growth factor receptor signaling pathway involved in hemopoiesis	ISS
GO:0035604	Process	Fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow	ISS
GO:0035607	Process	Fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development	ISS
GO:0042472	Process	Inner ear morphogenesis	ISS
GO:0042476	Process	Odontogenesis	ISS
GO:0042802	Function	Identical protein binding	IPI	9700203, 19060208
GO:0042803	Function	Protein homodimerization activity	IPI	16844695
GO:0043009	Process	Chordate embryonic development	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	15629145
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IEA
GO:0045165	Process	Cell fate commitment	ISS
GO:0045471	Process	Response to ethanol	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045667	Process	Regulation of osteoblast differentiation	TAS	15190072
GO:0045787	Process	Positive regulation of cell cycle	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046777	Process	Protein autophosphorylation	IDA	15629145
GO:0048286	Process	Lung alveolus development	ISS
GO:0048333	Process	Mesodermal cell differentiation	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	ISS
GO:0048562	Process	Embryonic organ morphogenesis	IEA
GO:0048562	Process	Embryonic organ morphogenesis	ISS
GO:0048565	Process	Digestive tract development	ISS
GO:0048568	Process	Embryonic organ development	ISS
GO:0048608	Process	Reproductive structure development	ISS
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IMP	7874170, 7987400
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048705	Process	Skeletal system morphogenesis	TAS	15190072
GO:0048730	Process	Epidermis morphogenesis	ISS
GO:0048755	Process	Branching morphogenesis of a nerve	ISS
GO:0048762	Process	Mesenchymal cell differentiation	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	ISS
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0051150	Process	Regulation of smooth muscle cell differentiation	ISS
GO:0051781	Process	Positive regulation of cell division	ISS
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	ISS
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060076	Component	Excitatory synapse	ISS
GO:0060174	Process	Limb bud formation	ISS
GO:0060348	Process	Bone development	ISS
GO:0060349	Process	Bone morphogenesis	ISS
GO:0060442	Process	Branching involved in prostate gland morphogenesis	ISS
GO:0060445	Process	Branching involved in salivary gland morphogenesis	ISS
GO:0060449	Process	Bud elongation involved in lung branching	ISS
GO:0060463	Process	Lung lobe morphogenesis	ISS
GO:0060484	Process	Lung-associated mesenchyme development	ISS
GO:0060501	Process	Positive regulation of epithelial cell proliferation involved in lung morphogenesis	ISS
GO:0060512	Process	Prostate gland morphogenesis	ISS
GO:0060523	Process	Prostate epithelial cord elongation	ISS
GO:0060527	Process	Prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	ISS
GO:0060529	Process	Squamous basal epithelial stem cell differentiation involved in prostate gland acinus development	ISS
GO:0060595	Process	Fibroblast growth factor receptor signaling pathway involved in mammary gland specification	ISS
GO:0060601	Process	Lateral sprouting from an epithelium	ISS
GO:0060615	Process	Mammary gland bud formation	ISS
GO:0060664	Process	Epithelial cell proliferation involved in salivary gland morphogenesis	ISS
GO:0060667	Process	Branch elongation involved in salivary gland morphogenesis	ISS
GO:0060670	Process	Branching involved in labyrinthine layer morphogenesis	ISS
GO:0060688	Process	Regulation of morphogenesis of a branching structure	ISS
GO:0060915	Process	Mesenchymal cell differentiation involved in lung development	ISS
GO:0060916	Process	Mesenchymal cell proliferation involved in lung development	ISS
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	ISS
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IEA
GO:1904888	Process	Cranial skeletal system development	IEA

MIM	HGNC	e!Ensembl
176943	3689	ENSG00000066468

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
NHTYHLDVVERSPHRPILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEKNGSK
YGPDGLPYLKVLKAAGVNTTDKEIEVLYIRNVTFEDAGEYTCLAGNSIGISFHSAWLTVL
PAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTK
RIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDK
LTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKM
IGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTF
KDLVSCTYQLARGMEYLASQKCIHRDLAARNVLVTENNVMKIADFGLARDINNIDYYKKT
TNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIPVEELFKLLKEGH
RMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEEYLDLSQPLEQYS
PSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT

Sequence length

821

Interactions

View interactions

	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

1359

Show/Hide Causal Diseases (36)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acrocephalosyndactyly type I	Pathogenic; Likely pathogenic	rs121918490, rs1057519041, rs121918491, rs79184941, rs77543610, rs121918498, rs879253721, rs1434545235, rs387907372	RCV002246353 RCV002249988 RCV002247335 RCV000014191 RCV000014193 RCV000014201 RCV001254178 RCV005603635 RCV000049281
Adenoid cystic carcinoma	Likely pathogenic; Pathogenic	rs121913474	RCV004813093
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	Likely pathogenic; Pathogenic	rs121918487, rs121918488, rs77543610, rs121918502	RCV001196204 RCV000014180 RCV000014183 RCV001197223 RCV000014209
Aural atresia, congenital	Pathogenic	rs121918499	RCV002254264
Beare-Stevenson cutis gyrata syndrome	Likely pathogenic; Pathogenic	rs121913478, rs121913477, rs121913474, rs1554930637	RCV000014198 RCV000014200 RCV005603622 RCV000022731
Bent bone dysplasia syndrome 1	Pathogenic; Likely pathogenic	rs387906677, rs387906678, rs1434545235	RCV000022734 RCV000022735 RCV002291280
Bilateral sensorineural hearing impairment	Likely pathogenic	rs2133823028	RCV001730847
Colorectal cancer	Pathogenic	rs1847174277	RCV001293828
Common craniosynostosis syndromes	Pathogenic; Likely pathogenic	rs121918491, rs121918496, rs1057519038, rs1057519037	RCV005887496 RCV006272127 RCV006443341 RCV006273020
Craniofacial-skeletal-dermatologic dysplasia	Pathogenic	rs121918499	RCV000014218
Craniosynostosis syndrome	Likely pathogenic; Pathogenic	rs121918487, rs121918491	RCV001730471 RCV000192353
Craniosynostosis, nonclassifiable autosomal dominant	Pathogenic	rs121918491	RCV000014185
Craniosynostosis, nonspecific	Likely pathogenic	rs1057519046	RCV000415476
Craniosynostosis, nonsyndromic unicoronal	Pathogenic	rs121918504	RCV000014212
Crouzon syndrome	Pathogenic; Likely pathogenic	rs776587763, rs121918487, rs121918489, rs121918490, rs121918488, rs121918491, rs121918492, rs121918493, rs121918494, rs121918496, rs121918497, rs121918500, rs121918501, rs121918502, rs121918504 View all (15 more)	RCV000844883 RCV000014173 RCV000014175 RCV000014176 RCV000014177 RCV000014181 RCV000014184 RCV000014188 RCV000014189 RCV000014190 RCV000014195 RCV000014196 RCV000014204 RCV000014205 RCV000014206 RCV003313920 RCV000856813 RCV000408850 RCV000014220 RCV000014226 RCV000415507 RCV000856727 RCV000415513 RCV000415494 RCV000415483 RCV000415502 RCV000415506 RCV000415488 RCV000415486 RCV000022732 RCV003128407 RCV000856806 RCV001263201
Ectrodactyly	Likely pathogenic	rs1850314485	RCV001089549
Endometrial carcinoma	Pathogenic; Likely pathogenic	rs79184941, rs121913478	RCV000014192 RCV000014199
Familial scaphocephaly syndrome, McGillivray type	Likely pathogenic; Pathogenic	rs121918507, rs121918508	RCV000014221 RCV004767007
FGFR2-related craniosynostosis	Pathogenic; Likely pathogenic	rs121918510, rs121918490, rs2134256250, rs879253719, rs2134260022, rs1057519039, rs2134254345, rs1274989878, rs1057519041, rs1589722765, rs2134253566, rs2134253609, rs121918501, rs2540049261, rs776587763 View all (41 more)	RCV001370090 RCV001377880 RCV001390280 RCV002034562 RCV001864146 RCV001864147 RCV001915790 RCV001946152 RCV003753216 RCV003101535 RCV003058266 RCV003062302 RCV002796351 RCV003048177 RCV000557313 RCV000547490 RCV001214882 RCV000655419 RCV000534888 RCV000655416 RCV000686210 RCV001851846 RCV000798719 RCV000655421 RCV000552015 RCV000532721 RCV001037961 RCV000535651 RCV001217538 RCV000549100 RCV001382546 RCV002513037 RCV000537718 RCV000528973 RCV001851847 RCV000690962 RCV000694780 RCV000655418 RCV001851848 RCV005089251 RCV002513038 RCV001382547 RCV002513039 RCV003588491 RCV003588492 RCV003588493 RCV003753362 RCV003754060 RCV001865307 RCV000815502 RCV000560038 RCV001861462 RCV001377881 RCV001381651 RCV002524678 RCV000655413 RCV002513173 RCV001232531 RCV000531359 RCV000525216 RCV000655417 RCV000655420 RCV000695392 RCV000695897 RCV000701381 RCV000818805 RCV001035610 RCV001049467 RCV001224644
FGFR2-related disorder	Pathogenic; Likely pathogenic	rs2134260022, rs2134254345, rs2134253609, rs776587763, rs121918491, rs121918492, rs79184941, rs77543610, rs121918497, rs121913478, rs121918499, rs121918501, rs121918502, rs121918506, rs2540116264 View all (4 more)	RCV004728861 RCV004538607 RCV004529197 RCV004737395 RCV002280092 RCV005249989 RCV004532334 RCV004532335 RCV005867753 RCV004532336 RCV004532337 RCV004724741 RCV004737152 RCV004532338 RCV004542695 RCV004737463 RCV004544729 RCV004528130 RCV004528313
FGFR2-related syndromic and non-syndromic craniosynostoses	Pathogenic	rs121918488	RCV001270790
Gastric cancer	Pathogenic	rs121918505	RCV002508123
Hepatocellular carcinoma	Pathogenic	rs121918491	RCV005887495
Jackson-Weiss syndrome	Pathogenic	rs121918488, rs121918492, rs121918497, rs121918487	RCV000014179 RCV000014182 RCV000014187 RCV000014197 RCV000415490 RCV000415499
Levy-Hollister syndrome	Likely pathogenic; Pathogenic	rs2133975330, rs121918508, rs879253720, rs121918509, rs1554907337, rs1554917471, rs1847510893	RCV002291169 RCV000014222 RCV000014223 RCV000014224 RCV000659649 RCV000659648 RCV001250712
Liver cancer	Pathogenic	rs79184941	RCV006253543
Meier-Gorlin syndrome 1	Likely pathogenic; Pathogenic	rs121918494	RCV004813038
Neoplasm	Pathogenic; Likely pathogenic	rs79184941, rs121913474, rs1057519043	RCV005229786 RCV006273731 RCV006273996
Pemigatinib resistance	Likely pathogenic	rs1057519045	RCV000786040
Pfeiffer syndrome	Pathogenic; Likely pathogenic	rs2134253566, rs886037837, rs776587763, rs121918487, rs121918488, rs121918492, rs121918494, rs79184941, rs77543610, rs121918495, rs121918497, rs121918499, rs121918502, rs121918503, rs121918505 View all (11 more)	RCV005002018 RCV000240846 RCV000415498 RCV000014174 RCV000014178 RCV000415484 RCV003313919 RCV001823713 RCV004527288 RCV005859461 RCV000014194 RCV000415509 RCV000014203 RCV000415503 RCV000014211 RCV000014213 RCV000014215 RCV000014216 RCV000014217 RCV000014219 RCV003988821 RCV000014225 RCV000014227 RCV004698884 RCV003989002 RCV000415480 RCV000415495 RCV003155177 RCV000415501 RCV000415475 RCV004796222
Pfeiffer syndrome type 3	Pathogenic	rs121918502	RCV000014208
Pfeiffer syndrome variant	Pathogenic	rs281865420	RCV000014202
Saethre-Chotzen syndrome	Pathogenic	rs879253718	RCV000014207
Scaphocephaly and axenfeld-rieger anomaly	Pathogenic	rs121918491	RCV000014186
See cases	Pathogenic	rs121918490	RCV002287333
Sialoblastoma	Likely pathogenic; Pathogenic	rs121913474	RCV006254007

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs3135802	RCV005891186
Autosomal dominant syndrome including deafness	Conflicting classifications of pathogenicity	rs998662110	RCV003155519
Cervical cancer	Benign; Likely benign	rs7895493, rs3135802, rs4647917	RCV005922282 RCV005891188 RCV005891761
Disorder of sexual differentiation	Uncertain significance	rs2134229231	RCV001568333
FGFR2-realated disorder	Conflicting classifications of pathogenicity	rs372430349	RCV002245031
Intellectual disability	Uncertain significance	rs2133943742	RCV002244237
Isolated Coronal Synostosis	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs3750819, rs147307031, rs56226109, rs755793, rs145303463, rs1047101, rs1047102, rs2278202, rs35337478, rs1047100, rs3135722, rs74160613, rs74160617, rs566259479, rs886046758 View all (82 more)	RCV000265971 RCV001103882 RCV000327188 RCV001105635 RCV000377985 RCV000387738 RCV000339836 RCV000279204 RCV000334154 RCV000321550 RCV000404873 RCV001106376 RCV001105338 RCV000379787 RCV000372357 RCV000397464 RCV000313396 RCV000302746 RCV000382095 RCV000283227 RCV000371832 RCV000376851 RCV000338502 RCV000347918 RCV000374247 RCV000399777 RCV000285358 RCV000379363 RCV000266721 RCV000355448 RCV000306162 RCV000307981 RCV000299042 RCV000314648 RCV000279093 RCV000346359 RCV000405277 RCV000288101 RCV000305605 RCV000319161 RCV000273702 RCV000389028 RCV000292614 RCV000329454 RCV000349851 RCV000396197 RCV000396124 RCV000270642 RCV000306119 RCV000404795 RCV000272973 RCV000332364 RCV000401486 RCV000266646 RCV000372710 RCV000376381 RCV000396257 RCV000308682 RCV000406055 RCV000261993 RCV000293239 RCV000344088 RCV000352688 RCV000331129 RCV000337414 RCV000328525 RCV001106282 RCV001106573 RCV001103586 RCV001105531 RCV001106008 RCV001108228 RCV001104951 RCV001106109 RCV001103142 RCV001108416 RCV001108509 RCV001108583 RCV001106467 RCV001103506 RCV001105428 RCV001105431 RCV001105525 RCV001103784 RCV001107504 RCV001107508 RCV001104170 RCV001106943 RCV001107603 RCV001107704 RCV001104074 RCV001104076 RCV001107793 RCV001107871 RCV001107878 RCV001104559 RCV001105900 RCV001108840 RCV001105636
LADD syndrome 1	Uncertain significance	rs2133797381	RCV003991141
Lung cancer	Benign; Likely benign	rs7895493, rs3135802, rs3135722	RCV005922284 RCV005891191 RCV005891184
Malignant tumor of esophagus	Benign	rs7895493, rs3135802	RCV005922281 RCV005891187
Ovarian serous cystadenocarcinoma	Benign	rs3135807, rs3135802	RCV005915113 RCV005891190
Sarcoma	Benign	rs7895493	RCV005922283
Seizure	Uncertain significance	rs2133943742	RCV002244237
Squamous cell lung carcinoma	Uncertain significance; Benign	rs1845634185, rs111564057	RCV001250976 RCV001250977
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs3135807, rs3135802, rs3135722, rs4647917	RCV005915114 RCV005891192 RCV005891185 RCV005891762
Variant of unknown significance	Uncertain significance	rs387906676	RCV000022733

Show/Hide Text Mining Associations (262)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Adenosarcoma of the uterus	Associate	26592504
Adie Syndrome	Associate	36416959
Adrenal Cortex Neoplasms	Associate	32522271
Adrenocortical Carcinoma	Associate	32522271
Aicardi Syndrome	Associate	26011570
Akesson syndrome	Associate	20499434
Alopecia Areata	Associate	20499434
Ameloblastoma	Associate	30216733, 35689405, 35761436
Angiofibroma	Associate	29634432
Antley Bixler Syndrome Phenotype	Associate	10633130, 15793702, 20124576
Appendiceal Neoplasms	Associate	31784493
Arthralgia	Associate	32203698
Arthritis Rheumatoid	Associate	34079550
Asthma	Associate	28599074
Astrocytoma	Associate	8290551
Autism Spectrum Disorder	Associate	37733178
Bile Duct Neoplasms	Stimulate	36996081
Biliary Tract Neoplasms	Associate	35583261, 35675577, 36008616, 36089135, 37341068
Bone Diseases Developmental	Associate	22387015, 27240702, 28595297
Bone Diseases Metabolic	Associate	22387015
Bone Neoplasms	Associate	23199169
Brain Neoplasms	Associate	35616216
Breast Carcinoma In Situ	Associate	24743323
Breast Neoplasms	Associate	10604729, 11056689, 11564899, 15311216, 17133345, 17529967, 17529973, 17997823, 18225535, 18285324, 18326623, 18337450, 18355772, 18437204, 18462018 View all (118 more)
Breast Neoplasms Male	Associate	21949660, 23308200, 33964913
Brenner Tumor	Associate	33077920
Bronchopulmonary Dysplasia	Associate	29722558
Cakut	Associate	36555181
Calcinosis	Associate	37427430
Calcinosis Cutis	Associate	27662660
Camptocormia	Associate	27240702
Carcinogenesis	Associate	15581609, 18337450, 21372219, 23545251, 23977259, 24817968, 25686244, 28871001, 29068468, 30417500, 30979816, 32429937, 7791773, 8440743
Carcinoma	Associate	18575591
Carcinoma Basal Cell	Associate	33212152
Carcinoma Endometrioid	Associate	21725289, 24696723, 32187665, 35866380
Carcinoma Hepatocellular	Associate	25091573, 25834803, 31940413, 32161315, 32378800, 33891563, 34476330, 38230456
Carcinoma Large Cell	Stimulate	26645239
Carcinoma Lobular	Associate	37830168
Carcinoma Non Small Cell Lung	Associate	18829480, 18849352, 25170639, 26853422, 27870574, 36142417
Carcinoma Ovarian Epithelial	Associate	23778141, 29229394
Carcinoma Pancreatic Ductal	Associate	17525264, 22159401, 34117747
Carcinoma Papillary	Inhibit	23977259
Carcinoma Papillary	Associate	24817968
Carcinoma Renal Cell	Associate	23444225, 33077920
Carcinoma Small Cell	Associate	36812376
Carcinoma Squamous Cell	Associate	22427941, 22768234, 27154171, 31254517, 32596330, 37821306
Carcinosarcoma	Associate	30194005
Cardiocranial syndrome	Associate	34366428
Cell Transformation Neoplastic	Associate	29068468
Central Serous Chorioretinopathy	Associate	34511423
Cerebral Ventricle Neoplasms	Associate	16906598
Cholangiocarcinoma	Associate	24550739, 24563076, 27829278, 28034880, 28255027, 28445152, 28972963, 29182496, 29848569, 30160357, 30420614, 31109923, 31186529, 31351075, 31371345 View all (39 more)
Choledochal Cyst	Stimulate	36996081
Cholestasis Intrahepatic	Associate	35871236
Cholesteatoma	Associate	12533693
Chondrosarcoma	Associate	36689318
Chordoma	Associate	24445144
Chronic Kidney Disease Mineral and Bone Disorder	Associate	40362441
Cirrhosis Familial	Associate	36190545
Clavicle Pseudarthrosis Of Congenital	Associate	22387015
Clear cell metastatic renal cell carcinoma	Associate	32304281
Cleft Lip	Associate	17873121, 28762674
Cleft Palate	Associate	21740177, 31262291, 31387623, 8651276
Colonic Diseases	Associate	35170141
Colonic Neoplasms	Associate	28835367, 40302086
Colorectal Neoplasms	Associate	19691111, 25926053, 26506517, 27756406, 28675510, 28835367, 29573334, 30979816, 34938284, 35544729, 35585358, 36700211, 37543577
Congenital Abnormalities	Associate	22879958
Congenital contractural arachnodactyly	Associate	35718679
congenital fibrosis of the extraocular muscles	Associate	36755349
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	10329600
Coronary Artery Disease	Associate	32469254
Coronary Disease	Associate	36060667
Costello Syndrome	Associate	30355600
COVID 19	Associate	38575325
Craniofacial Abnormalities	Associate	15282208, 21725289
Craniofacial Dysostosis	Associate	10712195, 11781872, 14969379, 15206560, 15282208, 16418739, 16470531, 20635358, 22355256, 22665975, 25174698, 27430617, 28901406, 29848297, 31318164 View all (10 more)
Craniosynostoses	Associate	10329600, 11781872, 14629875, 15282208, 15625620, 17525745, 22387015, 24578066, 25174698, 27430617, 28849010, 29848297, 31822532, 32415020, 32510873 View all (7 more)
Cutis Gyrata Syndrome of Beare And Stevenson	Associate	17449949, 17525745, 27079505
Cysts	Associate	23915865
Cytokine Release Syndrome	Stimulate	23613863
Deafness Craniofacial Syndrome	Associate	15206560
Death	Associate	27228464, 28314589, 31755953
Depressive Disorder	Associate	29753329
Diabetes Gestational	Stimulate	34930438
Diarrhea	Associate	25981814, 34511423
digital ulcers	Associate	8644708
Drug Related Side Effects and Adverse Reactions	Associate	30359238
Dysostoses	Associate	29848297
Ectodermal Dysplasia	Associate	16906598
Ectrodactyly Ectodermal Dysplasia And Cleft Lip Palate Syndrome 1	Associate	35866380
Endocrine System Diseases	Associate	36332363
Endometrial Hyperplasia	Associate	32187665
Endometrial Neoplasms	Associate	17525745, 18757403, 18785201, 19147536, 20106510, 21725289, 22383975, 23060048, 23300780, 25794154, 25981814, 28314589, 30002137, 35108035, 35866380, 37759450, 40209441 View all (2 more)
Endometriosis	Associate	17482184, 35311468
Epidermodysplasia Verruciformis	Associate	37427430
Epidermolysis bullosa simplex Ogna type	Associate	28675510
Esophageal Neoplasms	Associate	28857247
Esophageal Squamous Cell Carcinoma	Associate	23426935, 28857247, 34224333
Exophthalmos	Associate	22355256, 27430617, 31640617, 36755349
Exotropia	Associate	36755349
Facial Neoplasms	Associate	24578066
Familial Primary Pulmonary Hypertension	Associate	29722558
Fatigue	Associate	32203698
Fever	Associate	32203698
Fever of Unknown Origin	Associate	37922692
Fibrocystic Breast Disease	Associate	26806567, 33382535
Fibular hypoplasia and complex brachydactyly	Associate	36462464
Fractures Bone	Associate	38098042, 40362441
Fuchs' Endothelial Dystrophy	Associate	28118661
Gastrointestinal Diseases	Associate	25981814
Gastrointestinal Neoplasms	Associate	36416959
Gastrointestinal Stromal Tumors	Associate	31948066, 35170141
Genetic Diseases Inborn	Associate	17760502, 27812792
Giant Cell Tumors	Associate	28445128
Glioblastoma	Associate	10433932, 21691733, 24601786, 33853673, 34341009
Glioma	Associate	32839179, 36462464
Glucosephosphate Dehydrogenase Deficiency	Associate	26366417, 28314589
Granulosa cell tumor of the ovary	Associate	23071632
Graves Ophthalmopathy	Inhibit	34383782
Growth Disorders	Associate	11781872, 15206560
Head and Neck Neoplasms	Associate	36755349
HEM dysplasia	Associate	22387015, 34789231
Hemangioblastoma	Associate	40393028
Hepatitis B	Associate	24177593, 28408616
Hepatoblastoma	Associate	36996081
Hereditary Breast and Ovarian Cancer Syndrome	Associate	18973230
Hyperplasia	Associate	35866380
Hypertension	Associate	25981814, 37154169
Hypochondroplasia	Associate	17525745
Hypogonadism	Associate	30629183
Hypoxia	Stimulate	30573948
Hypoxia	Inhibit	30837551
Hypoxia	Associate	37770592
Hypoxia Brain	Associate	30837551
Idiopathic Noncirrhotic Portal Hypertension	Associate	23620752
Idiopathic Noncirrhotic Portal Hypertension	Stimulate	32979454
Idiopathic Pulmonary Fibrosis	Associate	26138239, 29722558
Infections	Associate	27223085
Inflammation	Associate	23613863
Jackson Weiss syndrome	Associate	8644708
Leukemia	Associate	33924850
Leukemia Lymphocytic Chronic B Cell	Associate	38280423
Leukemia Lymphoma Adult T Cell	Associate	33562071
Leukemia Myeloid Acute	Associate	27903959, 36509141
Liposarcoma Myxoid	Associate	26036639
Liver Cirrhosis Biliary	Associate	16216128
Lown Ganong Levine Syndrome	Inhibit	21475998
Lung Diseases	Associate	28445128, 29722558
Lung Neoplasms	Associate	18829480, 25477232
Lymphatic Metastasis	Associate	24457912, 30979816, 40302086
Lymphatic Metastasis	Inhibit	27154171
Lymphoma	Associate	37715207
Lymphoma Non Hodgkin	Associate	36416959
Malformations of Cortical Development	Associate	31822532
Mediastinal Emphysema	Associate	16216128
Melanoma	Associate	19147536, 21753785, 24858661, 25769001
Membranous Cranial Ossification Delayed	Associate	11341328
Mesothelioma Malignant	Associate	30417500, 31527449
Mixed Tumor Malignant	Associate	32706340
Mouth Diseases	Stimulate	26465941
Mouth Neoplasms	Associate	25029526
Multiple Endocrine Neoplasia	Associate	22879958
Multiple Sclerosis	Associate	24578066
Myocardial Infarction	Associate	32469254
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	15625620, 22387015
Myotonic Dystrophy	Associate	24027017
Nasopharyngeal Carcinoma	Associate	31115494
Neoplasm Invasiveness	Associate	17525264, 22159401
Neoplasm Metastasis	Associate	22159401, 22910930, 28056982, 28629429, 29917195, 34117747
Neoplasm Metastasis	Inhibit	30837551
Neoplasms	Associate	10604729, 11564899, 1380281, 15311216, 17525264, 17525745, 18225535, 18462018, 18575591, 19028704, 19147536, 19500394, 19691111, 20056625, 21382839 View all (94 more)
Neoplasms	Stimulate	11003564, 18563556, 24696723, 28339036
Neoplasms	Inhibit	20348248, 21725289, 23545251, 27669755, 35167603
Neoplasms Adipose Tissue	Associate	34930438
Neoplasms Cystic Mucinous and Serous	Associate	22990650
Neoplasms Neuroepithelial	Associate	26810070
Neoplasms Squamous Cell	Associate	27669755
Neuroblastoma	Associate	34807483
Neurocognitive Disorders	Associate	29915381
Neuroendocrine Tumors	Associate	23676460
Neurofibrosarcoma	Associate	26993773
Oculocutaneous albinism type 2	Associate	24004862
Oculodentodigital Dysplasia	Associate	17682060, 28400699, 33967277
Optic Atrophy	Associate	33725872
Orbital Diseases	Associate	16906598
Osseous Heteroplasia Progressive	Associate	11337381
Osteoarthritis	Associate	26400350, 31318164
Osteogenesis Imperfecta	Associate	38098042
Osteoporosis	Associate	31113874, 38098042, 40362441
Osteosarcoma	Associate	35887382
Otitis Media	Associate	29556625
Otitis Media Suppurative	Associate	29556625
Ovarian Neoplasms	Associate	17997823, 20106510, 23174937, 28734796, 33273524, 36856760
Ovarian Neoplasms	Stimulate	29229394
Pancreatic Intraductal Neoplasms	Associate	28776573
Pancreatic Neoplasms	Associate	17525264, 18594526, 34117747, 34511423, 35163506, 35583261, 9665482
Papilloma	Associate	25056374
Papillomavirus Infections	Associate	27223085, 37358427
Pituitary Neoplasms	Associate	30206133
Plagiocephaly	Associate	9152842
Pleural Effusion	Associate	32203698
Pleuropulmonary blastoma	Associate	24004862
Polyhydramnios	Associate	23915865
Porokeratosis punctata palmaris et plantaris	Associate	29182496
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	33049052
Primary Graft Dysfunction	Stimulate	18727701
Prodromal Symptoms	Associate	28314589
Prostate cancer familial	Associate	18285324, 18785201
Prostatic Hyperplasia	Associate	24385678
Prostatic Neoplasms	Associate	15655558, 26885621, 28802831, 30837551
Prostatic Neoplasms Castration Resistant	Associate	27249694, 37796107
Prostatitis	Associate	24385678
Pseudomyxoma Peritonei	Associate	29936255
Pulmonary Disease Chronic Obstructive	Associate	29722558, 33879098
Pulmonary Embolism	Associate	25981814
Rectal Neoplasms	Associate	26831663
Retinal Detachment	Associate	28849010
Rhabdomyosarcoma	Associate	34850536
Scoliosis	Associate	31318164
Sick Sinus Syndrome	Associate	18437204
Sleep Apnea Obstructive	Associate	36292735
Soft Tissue Injuries	Associate	31273315, 33727696
Squamous Cell Carcinoma of Head and Neck	Associate	25056374, 28984303, 29879932, 31894857
Squamous Cell Carcinoma of Head and Neck	Stimulate	26465941
Stomach Neoplasms	Associate	11003564, 1313574, 21173787, 22034905, 22240789, 22751462, 23545898, 24457912, 25222187, 25407459, 25561797, 25743022, 25882375, 26268776, 26587992 View all (29 more)
Stomach Neoplasms	Stimulate	36416959
Stomach Ulcer	Associate	23620752
Stomatitis	Associate	32203698
Strabismus	Associate	36755349
Syndactyly	Associate	15282208, 8651276, 9719378
Syndrome	Associate	36316724
Synostosis	Associate	20643727
Tarlov Cysts	Associate	26831663, 28984303
Teratoma	Associate	1313574
Thakker Donnai syndrome	Associate	22387015
Thrombocytopenia	Associate	23620752
Thyroid Cancer Papillary	Associate	28469731, 29917195
Thyroid Carcinoma Anaplastic	Associate	26680454
Thyroid Neoplasms	Associate	23977259, 24899248, 32812852
Tooth Avulsion	Associate	31640617
Triple Negative Breast Neoplasms	Associate	24510657, 26806567, 27472710, 35384527
Urethral Neoplasms	Associate	28972963, 32304281, 36240478, 37682528, 37821306, 37916514
Urinary Bladder Neoplasms	Stimulate	19822079
Urinary Bladder Neoplasms	Associate	24817968, 31146385, 34114376, 36462464
Urinary Bladder Neoplasms	Inhibit	27669755
Uterine Cervical Neoplasms	Associate	25669975, 27154171, 32951893, 34951738
Uterine Cervicitis	Associate	27223085
Uterine Neoplasms	Associate	17525745
Uveal melanoma	Associate	36232829
Vascular Diseases	Associate	37154169
Vasculitis Leukocytoclastic Cutaneous	Inhibit	22427941
Vitiligo	Associate	28129744

FGFR2 (fibroblast growth factor receptor 2)