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

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