Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	FGFR2
Previous Symbol	KGFR, BEK, CFD1, JWS
Symbol Alias	CEK3, TK14, TK25, ECT1, K-SAM, CD332
Approved Name	fibroblast growth factor receptor 2
Previous Name	bacteria-expressed kinase, "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"
Name Alias	Crouzon syndrome, "Pfeiffer syndrome"
Location	10q25.3-q26
Position	chr10:121478334-121598458, -1
External Links	HGNC: 3689 Entrez Gene: 2263 Ensembl: ENSG00000066468 UCSC: uc031wvw.1
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Xu, W., 2014	SNP: rs2981434	The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study
Wang, T.,2012	SNP: rs11199993, rs17101921, rs17102287, rs2981427, rs2981578, rs2981581, rs3135730, rs7090018 Haplotype: rs7090018 - rs11199993(T-G), rs7090018 - rs11199993(T-C), rs7090018 - rs11199993(G-G), rs7090018 - rs11199993 (T-G ), rs7090018 - rs11199993 (T-C ), rs7090018 - rs11199993 (G-G )	Association between FGFR2 and BPD is worthy of further confirmation.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 129)

GO terms by PBA (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	NAS[1697263]	219
GO:0016020	membrane	cellular component	NAS[8676562]	137
GO:0031012	extracellular matrix	cellular component	IDA[17959718]	9
GO:0005634	nucleus	cellular component	IDA[16597614]	283
GO:0045087	innate immune response	biological process	TAS	49
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	IDA[15629145]	158

GO terms by database search (count: 122)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008589	regulation of smoothened signaling pathway	biological process	ISS	7
GO:0006915	apoptotic process	biological process	IEA	39
GO:0035604	fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow	biological process	ISS	1
GO:0060501	positive regulation of epithelial cell proliferation involved in lung morphogenesis	biological process	ISS	2
GO:0030282	bone mineralization	biological process	ISS	2
GO:0009880	embryonic pattern specification	biological process	ISS	2
GO:0090263	positive regulation of canonical Wnt signaling pathway	biological process	ISS	9
GO:0060529	squamous basal epithelial stem cell differentiation involved in prostate gland acinus development	biological process	ISS	1
GO:0010453	regulation of cell fate commitment	biological process	ISS	1
GO:0060512	prostate gland morphogenesis	biological process	ISS	1
GO:0048755	branching morphogenesis of a nerve	biological process	ISS	2
GO:0033688	regulation of osteoblast proliferation	biological process	TAS[15190072]	1
GO:0002053	positive regulation of mesenchymal cell proliferation	biological process	ISS	3
GO:0060045	positive regulation of cardiac muscle cell proliferation	biological process	ISS	3
GO:0060667	branch elongation involved in salivary gland morphogenesis	biological process	ISS	1
GO:0017134	fibroblast growth factor binding	molecular function	IDA[8663044]; IPI[11923311]	2
GO:0030177	positive regulation of Wnt signaling pathway	biological process	ISS	4
GO:0060174	limb bud formation	biological process	ISS	2
GO:0045839	negative regulation of mitotic nuclear division	biological process	IEA	1
GO:0001525	angiogenesis	biological process	ISS	20
GO:0060442	branching involved in prostate gland morphogenesis	biological process	ISS	1
GO:0001657	ureteric bud development	biological process	ISS	3
GO:0048333	mesodermal cell differentiation	biological process	IEA	1
GO:0043410	positive regulation of MAPK cascade	biological process	IMP[15629145]	13
GO:0035264	multicellular organism growth	biological process	ISS	9
GO:0060349	bone morphogenesis	biological process	ISS	1
GO:0022612	gland morphogenesis	biological process	ISS	2
GO:0031069	hair follicle morphogenesis	biological process	ISS	4
GO:0005794	Golgi apparatus	cellular component	IEA	60
GO:0048565	digestive tract development	biological process	ISS	4
GO:0045165	cell fate commitment	biological process	ISS	3
GO:0050679	positive regulation of epithelial cell proliferation	biological process	ISS	9
GO:0021860	pyramidal neuron development	biological process	ISS	1
GO:0070307	lens fiber cell development	biological process	IEA	1
GO:0045787	positive regulation of cell cycle	biological process	ISS	4
GO:0060601	lateral sprouting from an epithelium	biological process	ISS	1
GO:0060523	prostate epithelial cord elongation	biological process	ISS	2
GO:0070372	regulation of ERK1 and ERK2 cascade	biological process	ISS	1
GO:0060348	bone development	biological process	ISS	3
GO:0070374	positive regulation of ERK1 and ERK2 cascade	biological process	ISS	14
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0038095	Fc-epsilon receptor signaling pathway	biological process	TAS	19
GO:0005515	protein binding	molecular function	IPI[10618369]	563
GO:0048705	skeletal system morphogenesis	biological process	TAS[15190072]	3
GO:0060595	fibroblast growth factor receptor signaling pathway involved in mammary gland specification	biological process	ISS	1
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	ISS	62
GO:0009791	post-embryonic development	biological process	ISS	10
GO:0016331	morphogenesis of embryonic epithelium	biological process	ISS	1
GO:0046777	protein autophosphorylation	biological process	IDA[15629145]	16
GO:0048286	lung alveolus development	biological process	ISS	4
GO:0030324	lung development	biological process	ISS	9
GO:0061031	endodermal digestive tract morphogenesis	biological process	IEA	1
GO:0060484	lung-associated mesenchyme development	biological process	ISS	1
GO:0008286	insulin receptor signaling pathway	biological process	TAS	15
GO:0060916	mesenchymal cell proliferation involved in lung development	biological process	ISS	1
GO:0042476	odontogenesis	biological process	ISS	2
GO:0060664	epithelial cell proliferation involved in salivary gland morphogenesis	biological process	ISS	3
GO:0003148	outflow tract septum morphogenesis	biological process	ISS	1
GO:0048608	reproductive structure development	biological process	ISS	2
GO:0045667	regulation of osteoblast differentiation	biological process	TAS[15190072]	1
GO:0010518	positive regulation of phospholipase activity	biological process	IMP[16844695]	1
GO:0040036	regulation of fibroblast growth factor receptor signaling pathway	biological process	ISS	3
GO:0048762	mesenchymal cell differentiation	biological process	ISS	1
GO:0060687	regulation of branching involved in prostate gland morphogenesis	biological process	ISS	2
GO:0042472	inner ear morphogenesis	biological process	ISS	8
GO:0050680	negative regulation of epithelial cell proliferation	biological process	IEA	4
GO:0007409	axonogenesis	biological process	ISS	11
GO:0048562	embryonic organ morphogenesis	biological process	ISS	1
GO:0042803	protein homodimerization activity	molecular function	IPI[16844695]	71
GO:0048568	embryonic organ development	biological process	ISS	2
GO:0048701	embryonic cranial skeleton morphogenesis	biological process	IMP[7874170]	3
GO:0060365	coronal suture morphogenesis	biological process	IEA	1
GO:0035603	fibroblast growth factor receptor signaling pathway involved in hemopoiesis	biological process	ISS	1
GO:0001837	epithelial to mesenchymal transition	biological process	IEA	3
GO:0040014	regulation of multicellular organism growth	biological process	ISS	4
GO:0008543	fibroblast growth factor receptor signaling pathway	biological process	IDA[15629145]; IGI[8663044]; IPI[10830168]; TAS	21
GO:0048661	positive regulation of smooth muscle cell proliferation	biological process	IEA	11
GO:0035602	fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow	biological process	ISS	1
GO:0008201	heparin binding	molecular function	IEA	8
GO:0005524	ATP binding	molecular function	IEA	118
GO:0060527	prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	biological process	ISS	3
GO:0032808	lacrimal gland development	biological process	ISS	1
GO:0021769	orbitofrontal cortex development	biological process	ISS	2
GO:0051781	positive regulation of cell division	biological process	ISS	1
GO:0048015	phosphatidylinositol-mediated signaling	biological process	TAS	17
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	TAS	22
GO:0009986	cell surface	cellular component	IDA[16597614]	40
GO:0005938	cell cortex	cellular component	IDA[17471512]	7
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	ISS	91
GO:0008284	positive regulation of cell proliferation	biological process	IDA[8663044]; IGI[8663044]; IMP[15629145]	44
GO:0005737	cytoplasm	cellular component	IDA[16597614]	322
GO:0048557	embryonic digestive tract morphogenesis	biological process	ISS	4
GO:0007267	cell-cell signaling	biological process	ISS	29
GO:0060688	regulation of morphogenesis of a branching structure	biological process	ISS	2
GO:0051150	regulation of smooth muscle cell differentiation	biological process	ISS	1
GO:0060670	branching involved in labyrinthine layer morphogenesis	biological process	ISS	3
GO:0001701	in utero embryonic development	biological process	ISS	17
GO:0060463	lung lobe morphogenesis	biological process	ISS	2
GO:0048489	synaptic vesicle transport	biological process	IEA	3
GO:0055010	ventricular cardiac muscle tissue morphogenesis	biological process	ISS	1
GO:0003149	membranous septum morphogenesis	biological process	ISS	2
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0030916	otic vesicle formation	biological process	ISS	1
GO:0018108	peptidyl-tyrosine phosphorylation	biological process	IDA[15629145]	12
GO:0005007	fibroblast growth factor-activated receptor activity	molecular function	IDA[15629145]; IGI[10830168]; NAS[1400433]	2
GO:0048730	epidermis morphogenesis	biological process	ISS	1
GO:0009887	organ morphogenesis	biological process	ISS	9
GO:0004713	protein tyrosine kinase activity	molecular function	NAS[1697263]	9
GO:0021847	ventricular zone neuroblast division	biological process	ISS	1
GO:0005576	extracellular region	cellular component	IEA	97
GO:0035265	organ growth	biological process	ISS	4
GO:0030901	midbrain development	biological process	ISS	6
GO:0060445	branching involved in salivary gland morphogenesis	biological process	ISS	3
GO:0030855	epithelial cell differentiation	biological process	ISS	5
GO:0007528	neuromuscular junction development	biological process	IEA	8
GO:0060615	mammary gland bud formation	biological process	ISS	1
GO:0016023	cytoplasmic membrane-bounded vesicle	cellular component	IEA	16
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0060076	excitatory synapse	cellular component	ISS	3
GO:0060915	mesenchymal cell differentiation involved in lung development	biological process	ISS	1
GO:0060449	bud elongation involved in lung branching	biological process	ISS	1
GO:0035607	fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development	biological process	ISS	1

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04010	MAPK signaling pathway	39

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05215	Prostate cancer	18
hsa04810	Regulation of actin cytoskeleton	24

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 17)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
FGFR2	FGF7	NO	in vivo	7687739
FGFR2	FGF10	NO	in vitro;in vivo	9582367
FGFR2	FGF3	NO	in vitro	8663044
FGFR2	PTK2B	YES	in vitro;in vivo	15105428
FGFR2	PAK4	NO	in vitro;in vivo;yeast 2-hybrid	12529371
FGFR2	FGF5	NO	in vivo	11876253
FGFR2	FGF4	NO	in vitro	8663044
FGFR2	FGF8	NO	in vitro	8663044 , 10751172
FGFR2	FGF9	NO	in vivo	8576175
FGFR2	FGF23	NO	in vitro	12032146
FGFR2	FGF17	NO	in vitro	10751172
FGFR2	ITGA5	NO	in vitro	15728256
FGFR2	FGF1	NO	in vitro;in vivo	10618369 , 11069186 , 14732692
FGFR2	CACNA1D	YES	in vivo	11292657
FGFR2	FGF6	NO	in vitro	8663044
FGFR2	FGF18	NO	in vitro	10751172
FGFR2	EPHA4	NO	in vivo;yeast 2-hybrid	16365308

Related other genetic factors

Gene related SNPs (count: 28)

Literature-origin SNPs (count: 9)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2981578	chr10:121580797 - 121580797(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)
rs2981427	chr10:121558217 - 121558217(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)
rs11199993	chr10:121531750 - 121531750(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs3135730	chr10:121566280 - 121566280(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2981434	chr10:121528189 - 121528189(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)
rs17101921	chr10:121393781 - 121393781(1)		1(0/1/0)
rs2981581	chr10:121592868 - 121592868(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)
rs17102287	chr10:121590677 - 121590677(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)
rs7090018	chr10:121509375 - 121509375(1)	intron_variant; NMD_transcript_variant	1(0/1/0)

LD-proxies (count: 19)

rs_ID	Location	Functional Annotation
rs10736303	chr10:121574943 - 121574943(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7073360	chr10:121548220 - 121548220(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs3135749	chr10:121550306 - 121550306(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs3135715	chr10:121595212 - 121595212(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs12245334	chr10:121555726 - 121555726(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs17102202	chr10:121554016 - 121554016(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs3135736	chr10:121553500 - 121553500(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs3135737	chr10:121553445 - 121553445(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs3135739	chr10:121552610 - 121552610(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs3135743	chr10:121551774 - 121551774(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs755793	chr10:121551357 - 121551357(1)	missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs11200014	chr10:121575416 - 121575416(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs3135747	chr10:121550551 - 121550551(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1078806	chr10:121579461 - 121579461(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2912759	chr10:121510197 - 121510197(1)	intron_variant; NMD_transcript_variant
rs2912760	chr10:121511545 - 121511545(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs11199991	chr10:121510824 - 121510824(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs2303568	chr10:121564448 - 121564448(1)	3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant
rs9888022	chr10:121563500 - 121563500(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 10	chr10:0-133797422	3 (0/2/1)
10q25-q26	chr10:104000000-133797422	2 (0/0/2)
10q26	chr10:117300000-133797422	3 (0/1/2)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
22404656	No SNPs were associated with SCZ or MDD in allelic analysis after permutation.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
17893707	606	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
22404656	No SNPs were associated with SCZ or MDD in allelic analysis after permutation.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 2)

Reference	Description	Category in MDD	Link in MK4MDD
15483108	Of the 10 FGF transcripts reliably detected, 4 were significantly differentially expressed in the DLPFC of MDD subjects, including 2 FGF receptors (FGFR 2 and 3) and 2 FGF ligands (FGF 1 and 9)	Pos	FGFR2
15303102	Genes altered in major depressive disorder	Pos	FGFR2

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Region: chr10:121478334..121598458 View in gBrowse