CleftGeneDB-Search

Gene: FGF18

Basic information

Tag	Content
Uniprot ID	O76093; D3DQL7; Q6UWF1;
Entrez ID	8817
Genbank protein ID	AAV38377.1; AAH06245.1; AAF22977.1; EAW61442.1; EAW61441.1; AAC62240.1; AAV38378.1; AAQ89954.1; BAA31986.1;
Genbank nucleotide ID	NM_003862.2
Ensembl protein ID	ENSP00000274625
Ensembl nucleotide ID	ENSG00000156427
Gene name	Fibroblast growth factor 18
Gene symbol	FGF18
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	19727229
Functional description	Plays an important role in the regulation of cell proliferation, cell differentiation and cell migration. Required for normal ossification and bone development. Stimulates hepatic and intestinal proliferation.
Sequence	MYSAPSACTC LCLHFLLLCF QVQVLVAEEN VDFRIHVENQ TRARDDVSRK QLRLYQLYSR 60 TSGKHIQVLG RRISARGEDG DKYAQLLVET DTFGSQVRIK GKETEFYLCM NRKGKLVGKP 120 DGTSKECVFI EKVLENNYTA LMSAKYSGWY VGFTKKGRPR KGPKTRENQQ DVHFMKRYPK 180 GQPELQKPFK YTTVTKRSRR IRPTHPA 207

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
4CJM

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	FGF18		F2Z4J0			Bos taurus	Prediction	More>>
1:1 ortholog	FGF18		A0A452E8D6			Capra hircus	Prediction	More>>
1:1 ortholog	FGF18	8817	O76093			Homo sapiens	Publication	More>>
1:1 ortholog	Fgf18	14172	O89101	CPO	E16.5	Mus musculus	Publication	More>>
1:1 ortholog	FGF18		H2R563			Pan troglodytes	Prediction	More>>
1:1 ortholog	FGF18	100525013	A0A5G2QUY7			Sus scrofa	Prediction	More>>
1:1 ortholog	Fgf18		M0R6D5			Rattus norvegicus	Prediction	More>>
1:1 ortholog	fgf18a		F1QKX4			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
FGF18	rs4043716	Genotyping; TDT	19727229

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1156866794	p.Tyr2Ser	missense variant	-	NC_000005.10:g.171420204A>C	gnomAD
rs1384426981	p.Ala4Val	missense variant	-	NC_000005.10:g.171420210C>T	gnomAD
NCI-TCGA novel	p.Pro5Leu	missense variant	-	NC_000005.10:g.171420213C>T	NCI-TCGA
rs1387858949	p.Pro5Ser	missense variant	-	NC_000005.10:g.171420212C>T	TOPMed,gnomAD
rs550934107	p.Ala7Pro	missense variant	-	NC_000005.10:g.171420218G>C	1000Genomes,TOPMed,gnomAD
rs550934107	p.Ala7Thr	missense variant	-	NC_000005.10:g.171420218G>A	1000Genomes,TOPMed,gnomAD
rs550934107	p.Ala7Ser	missense variant	-	NC_000005.10:g.171420218G>T	1000Genomes,TOPMed,gnomAD
rs775936004	p.Cys8Arg	missense variant	-	NC_000005.10:g.171420221T>C	ExAC,gnomAD
rs914970331	p.Thr9Ile	missense variant	-	NC_000005.10:g.171420225C>T	gnomAD
rs746317590	p.His14Pro	missense variant	-	NC_000005.10:g.171420415A>C	ExAC,gnomAD
rs746317590	p.His14Leu	missense variant	-	NC_000005.10:g.171420415A>T	ExAC,gnomAD
rs1235196216	p.His14Gln	missense variant	-	NC_000005.10:g.171420416C>G	gnomAD
rs1472249925	p.Phe15Leu	missense variant	-	NC_000005.10:g.171420419C>A	TOPMed
rs1361814813	p.Leu18Pro	missense variant	-	NC_000005.10:g.171420427T>C	TOPMed
COSM449320	p.Phe20Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171420434C>A	NCI-TCGA Cosmic
rs1397464749	p.Gln21Glu	missense variant	-	NC_000005.10:g.171420435C>G	gnomAD
rs374036367	p.Val22Leu	missense variant	-	NC_000005.10:g.171420438G>T	ESP,ExAC,TOPMed,gnomAD
rs1315393239	p.Gln23Pro	missense variant	-	NC_000005.10:g.171420442A>C	gnomAD
rs1239153876	p.Leu25Val	missense variant	-	NC_000005.10:g.171436096C>G	TOPMed
rs758470984	p.Val26Ile	missense variant	-	NC_000005.10:g.171436099G>A	ExAC,gnomAD
rs1455869974	p.Val26Ala	missense variant	-	NC_000005.10:g.171436100T>C	gnomAD
rs747503710	p.Glu28Lys	missense variant	-	NC_000005.10:g.171436105G>A	ExAC,TOPMed,gnomAD
rs747503710	p.Glu28Lys	missense variant	-	NC_000005.10:g.171436105G>A	NCI-TCGA,NCI-TCGA Cosmic
rs781557133	p.Val31Met	missense variant	-	NC_000005.10:g.171436114G>A	ExAC,TOPMed,gnomAD
rs1429935280	p.Phe33Leu	missense variant	-	NC_000005.10:g.171436122C>G	gnomAD
rs1316355669	p.Arg34Cys	missense variant	-	NC_000005.10:g.171436123C>T	TOPMed
rs1316355669	p.Arg34Cys	missense variant	-	NC_000005.10:g.171436123C>T	NCI-TCGA Cosmic
rs772878013	p.Arg34His	missense variant	-	NC_000005.10:g.171436124G>A	ExAC,gnomAD
rs377227813	p.Ile35Met	missense variant	-	NC_000005.10:g.171436128C>G	ESP,ExAC,TOPMed,gnomAD
rs770424234	p.Glu38Ter	stop gained	-	NC_000005.10:g.171436135G>T	ExAC,gnomAD
rs773745940	p.Glu38Val	missense variant	-	NC_000005.10:g.171436136A>T	ExAC,gnomAD
COSM3827682	p.Gln40Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171436142A>G	NCI-TCGA Cosmic
rs1364168143	p.Arg42Trp	missense variant	-	NC_000005.10:g.171436147C>T	TOPMed,gnomAD
rs759450877	p.Arg42Gln	missense variant	-	NC_000005.10:g.171436148G>A	ExAC,TOPMed,gnomAD
rs759450877	p.Arg42Leu	missense variant	-	NC_000005.10:g.171436148G>T	ExAC,TOPMed,gnomAD
rs1315199615	p.Ala43Thr	missense variant	-	NC_000005.10:g.171436150G>A	gnomAD
rs775622513	p.Arg44Gln	missense variant	-	NC_000005.10:g.171436154G>A	ExAC,TOPMed,gnomAD
COSM3614160	p.Asp45Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171436156G>A	NCI-TCGA Cosmic
rs764018910	p.Asp46Asn	missense variant	-	NC_000005.10:g.171436159G>A	ExAC,TOPMed,gnomAD
rs1439909760	p.Val47Met	missense variant	-	NC_000005.10:g.171436162G>A	gnomAD
COSM3853698	p.Arg49Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171436168C>T	NCI-TCGA Cosmic
rs138337537	p.Arg49His	missense variant	-	NC_000005.10:g.171436169G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138337537	p.Arg49Leu	missense variant	-	NC_000005.10:g.171436169G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1405080420	p.Lys50Arg	missense variant	-	NC_000005.10:g.171436172A>G	gnomAD
rs371464587	p.Gln51His	missense variant	-	NC_000005.10:g.171436176G>T	ESP,ExAC,TOPMed,gnomAD
rs941616961	p.Gln51Arg	missense variant	-	NC_000005.10:g.171436175A>G	TOPMed
rs755155972	p.Arg53Trp	missense variant	-	NC_000005.10:g.171436180C>T	ExAC,gnomAD
rs755155972	p.Arg53Trp	missense variant	-	NC_000005.10:g.171436180C>T	NCI-TCGA
NCI-TCGA novel	p.Tyr55Cys	missense variant	-	NC_000005.10:g.171436187A>G	NCI-TCGA
rs781656350	p.Tyr58Ter	stop gained	-	NC_000005.10:g.171436197C>A	ExAC,TOPMed,gnomAD
rs756441926	p.Arg60Trp	missense variant	-	NC_000005.10:g.171436201C>T	ExAC,gnomAD
rs756441926	p.Arg60Trp	missense variant	-	NC_000005.10:g.171436201C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1400846901	p.Arg60Gln	missense variant	-	NC_000005.10:g.171436202G>A	gnomAD
rs1371217994	p.Gly63Arg	missense variant	-	NC_000005.10:g.171436210G>A	gnomAD
rs1381517920	p.Val68Ile	missense variant	-	NC_000005.10:g.171436225G>A	TOPMed
rs778692675	p.Gly70Ala	missense variant	-	NC_000005.10:g.171436232G>C	ExAC,gnomAD
rs745353337	p.Arg71His	missense variant	-	NC_000005.10:g.171436235G>A	ExAC,TOPMed,gnomAD
rs1441510334	p.Arg71Cys	missense variant	-	NC_000005.10:g.171436234C>T	gnomAD
RCV000736147	p.Arg71Cys	missense variant	-	NC_000005.10:g.171436234C>T	ClinVar
rs745353337	p.Arg71His	missense variant	-	NC_000005.10:g.171436235G>A	NCI-TCGA
rs1206112417	p.Arg72Gly	missense variant	-	NC_000005.10:g.171436237A>G	gnomAD
rs775534638	p.Arg76His	missense variant	-	NC_000005.10:g.171436250G>A	NCI-TCGA,NCI-TCGA Cosmic
rs771656785	p.Arg76Cys	missense variant	-	NC_000005.10:g.171436249C>T	ExAC,TOPMed,gnomAD
rs775534638	p.Arg76His	missense variant	-	NC_000005.10:g.171436250G>A	ExAC,gnomAD
rs1164130904	p.Gly80Glu	missense variant	-	NC_000005.10:g.171436262G>A	gnomAD
rs1474180921	p.Gly80Arg	missense variant	-	NC_000005.10:g.171436261G>A	gnomAD
rs1423994384	p.Asp81Asn	missense variant	-	NC_000005.10:g.171436264G>A	gnomAD
NCI-TCGA novel	p.Gly94Ser	missense variant	-	NC_000005.10:g.171449176G>A	NCI-TCGA
NCI-TCGA novel	p.Ser95Asn	missense variant	-	NC_000005.10:g.171449180G>A	NCI-TCGA
COSM3827683	p.Gln96Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171449182C>G	NCI-TCGA Cosmic
rs1345063781	p.Arg98Trp	missense variant	-	NC_000005.10:g.171449188C>T	gnomAD
NCI-TCGA novel	p.Gly101Ser	missense variant	-	NC_000005.10:g.171449197G>A	NCI-TCGA
rs916027671	p.Lys102Glu	missense variant	-	NC_000005.10:g.171449200A>G	TOPMed
rs759836429	p.Phe106Leu	missense variant	-	NC_000005.10:g.171449212T>C	ExAC,gnomAD
rs201988531	p.Arg112His	missense variant	-	NC_000005.10:g.171449231G>A	NCI-TCGA
rs201988531	p.Arg112His	missense variant	-	NC_000005.10:g.171449231G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs908750637	p.Leu116Val	missense variant	-	NC_000005.10:g.171449242C>G	TOPMed
rs765232190	p.Val117Met	missense variant	-	NC_000005.10:g.171449245G>A	gnomAD
rs765232190	p.Val117Leu	missense variant	-	NC_000005.10:g.171449245G>T	gnomAD
COSM1436012	p.Gly118Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171449248G>T	NCI-TCGA Cosmic
COSM737717	p.Asp121Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171456542G>T	NCI-TCGA Cosmic
rs775745780	p.Asp121Asn	missense variant	-	NC_000005.10:g.171456542G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly122Ser	missense variant	-	NC_000005.10:g.171456545G>A	NCI-TCGA
COSM3827684	p.Glu126Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171456557G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe129Leu	missense variant	-	NC_000005.10:g.171456566T>C	NCI-TCGA
NCI-TCGA novel	p.Phe129Leu	missense variant	-	NC_000005.10:g.171456568C>A	NCI-TCGA
rs758902974	p.Thr139Met	missense variant	-	NC_000005.10:g.171456597C>T	NCI-TCGA,NCI-TCGA Cosmic
rs758902974	p.Thr139Met	missense variant	-	NC_000005.10:g.171456597C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala140Thr	missense variant	-	NC_000005.10:g.171456599G>A	NCI-TCGA
NCI-TCGA novel	p.Ser143Leu	missense variant	-	NC_000005.10:g.171456609C>T	NCI-TCGA
rs1487138082	p.Gly148Ser	missense variant	-	NC_000005.10:g.171456623G>A	TOPMed
COSM6103392	p.Trp149Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.171456628G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr150His	missense variant	-	NC_000005.10:g.171456629T>C	NCI-TCGA
rs777636261	p.Tyr150Phe	missense variant	-	NC_000005.10:g.171456630A>T	ExAC,gnomAD
rs770760501	p.Val151Met	missense variant	-	NC_000005.10:g.171456632G>A	ExAC,gnomAD
COSM6170647	p.Gly157Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171456650G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg158Leu	missense variant	-	NC_000005.10:g.171456654G>T	NCI-TCGA
COSM3339491	p.Arg158Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171456653C>T	NCI-TCGA Cosmic
rs1048603540	p.Arg158Gln	missense variant	-	NC_000005.10:g.171456654G>A	TOPMed,gnomAD
rs376004950	p.Arg160Gln	missense variant	-	NC_000005.10:g.171456660G>A	ESP,TOPMed
rs1327595547	p.Arg160Trp	missense variant	-	NC_000005.10:g.171456659C>T	gnomAD
rs556878675	p.Arg166Trp	missense variant	-	NC_000005.10:g.171456677C>T	NCI-TCGA,NCI-TCGA Cosmic
rs556878675	p.Arg166Trp	missense variant	-	NC_000005.10:g.171456677C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3614161	p.Glu167Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171456680G>A	NCI-TCGA Cosmic
rs766890171	p.Gln170Leu	missense variant	-	NC_000005.10:g.171456690A>T	ExAC,gnomAD
rs1206095348	p.Arg177His	missense variant	-	NC_000005.10:g.171456711G>A	gnomAD
rs1251092753	p.Lys180Glu	missense variant	-	NC_000005.10:g.171456719A>G	TOPMed,gnomAD
rs759286664	p.Lys180Thr	missense variant	-	NC_000005.10:g.171456720A>C	ExAC,TOPMed,gnomAD
rs759286664	p.Lys180Arg	missense variant	-	NC_000005.10:g.171456720A>G	ExAC,TOPMed,gnomAD
rs1190637735	p.Gly181Arg	missense variant	-	NC_000005.10:g.171456722G>A	gnomAD
NCI-TCGA novel	p.Gly181Glu	missense variant	-	NC_000005.10:g.171456723G>A	NCI-TCGA
rs755637038	p.Gln182His	missense variant	-	NC_000005.10:g.171456727G>T	ExAC,gnomAD
rs150911562	p.Pro183Leu	missense variant	-	NC_000005.10:g.171456729C>T	ESP,ExAC,TOPMed,gnomAD
rs374632508	p.Glu184Asp	missense variant	-	NC_000005.10:g.171456733G>T	ESP,ExAC,TOPMed,gnomAD
rs374632508	p.Glu184Asp	missense variant	-	NC_000005.10:g.171456733G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu185Phe	missense variant	-	NC_000005.10:g.171456734C>T	NCI-TCGA
rs768924757	p.Leu185Val	missense variant	-	NC_000005.10:g.171456734C>G	ExAC,gnomAD
rs1416118830	p.Tyr191Phe	missense variant	-	NC_000005.10:g.171456753A>T	gnomAD
rs1310584496	p.Thr192Met	missense variant	-	NC_000005.10:g.171456756C>T	TOPMed,gnomAD
rs1310584496	p.Thr192Arg	missense variant	-	NC_000005.10:g.171456756C>G	TOPMed,gnomAD
rs748249613	p.Thr193Met	missense variant	-	NC_000005.10:g.171456759C>T	ExAC,TOPMed,gnomAD
rs748249613	p.Thr193Met	missense variant	-	NC_000005.10:g.171456759C>T	NCI-TCGA,NCI-TCGA Cosmic
rs763585537	p.Arg199His	missense variant	-	NC_000005.10:g.171456777G>A	ExAC,TOPMed,gnomAD
rs763585537	p.Arg199Leu	missense variant	-	NC_000005.10:g.171456777G>T	ExAC,TOPMed,gnomAD
rs772362026	p.Arg199Cys	missense variant	-	NC_000005.10:g.171456776C>T	ExAC,gnomAD
rs774871591	p.Arg200Trp	missense variant	-	NC_000005.10:g.171456779C>T	ExAC,gnomAD
rs371575721	p.Arg200Gln	missense variant	-	NC_000005.10:g.171456780G>A	ESP,ExAC,TOPMed,gnomAD
rs774871591	p.Arg200Gly	missense variant	-	NC_000005.10:g.171456779C>G	ExAC,gnomAD
rs371575721	p.Arg200Leu	missense variant	-	NC_000005.10:g.171456780G>T	ESP,ExAC,TOPMed,gnomAD
rs371575721	p.Arg200Gln	missense variant	-	NC_000005.10:g.171456780G>A	NCI-TCGA,NCI-TCGA Cosmic
rs752340225	p.Arg202Gln	missense variant	-	NC_000005.10:g.171456786G>A	ExAC,TOPMed,gnomAD
rs546008025	p.Arg202Trp	missense variant	-	NC_000005.10:g.171456785C>T	1000Genomes,ExAC,gnomAD
rs375757183	p.Pro203Ala	missense variant	-	NC_000005.10:g.171456788C>G	ESP,TOPMed,gnomAD
rs375757183	p.Pro203Ser	missense variant	-	NC_000005.10:g.171456788C>T	NCI-TCGA,NCI-TCGA Cosmic
rs375757183	p.Pro203Ser	missense variant	-	NC_000005.10:g.171456788C>T	ESP,TOPMed,gnomAD
rs1307977628	p.Thr204Ile	missense variant	-	NC_000005.10:g.171456792C>T	TOPMed
rs1187616533	p.His205Arg	missense variant	-	NC_000005.10:g.171456795A>G	TOPMed,gnomAD
rs1217256632	p.Pro206Thr	missense variant	-	NC_000005.10:g.171456797C>A	TOPMed
rs1217256632	p.Pro206Ala	missense variant	-	NC_000005.10:g.171456797C>G	TOPMed
rs1021408845	p.Pro206Leu	missense variant	-	NC_000005.10:g.171456798C>T	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005890	Body Height	phenotype	GWASCAT
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0008924	Cleft upper lip	disease	LHGDN
C0009375	Colonic Neoplasms	group	LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0019284	Diaphragmatic Hernia	phenotype	CTD_human
C0025202	melanoma	disease	BEFREE
C0025500	Mesothelioma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032460	Polycystic Ovary Syndrome	disease	CTD_human
C0035334	Retinitis Pigmentosa	disease	BEFREE
C0039101	synovial sarcoma	disease	BEFREE
C0235833	Congenital diaphragmatic hernia	disease	BEFREE
C0345967	Malignant mesothelioma	disease	CTD_human
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C1136382	Sclerocystic Ovaries	disease	CTD_human
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1285162	Degenerative disorder	group	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005105	type 1 fibroblast growth factor receptor binding	IDA
GO:0005111	type 2 fibroblast growth factor receptor binding	IDA
GO:0008083	growth factor activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000165	MAPK cascade	TAS
GO:0001525	angiogenesis	IEA
GO:0001957	intramembranous ossification	IEA
GO:0001958	endochondral ossification	IEA
GO:0002063	chondrocyte development	IEA
GO:0007165	signal transduction	TAS
GO:0007267	cell-cell signaling	TAS
GO:0008284	positive regulation of cell population proliferation	IEA
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS
GO:0009653	anatomical structure morphogenesis	TAS
GO:0030324	lung development	IEA
GO:0030949	positive regulation of vascular endothelial growth factor receptor signaling pathway	IEA
GO:0032332	positive regulation of chondrocyte differentiation	IEA
GO:0043406	positive regulation of MAP kinase activity	IDA
GO:0043536	positive regulation of blood vessel endothelial cell migration	IGI
GO:0045766	positive regulation of angiogenesis	IGI
GO:0051897	positive regulation of protein kinase B signaling	TAS
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA
GO:2000546	positive regulation of endothelial cell chemotaxis to fibroblast growth factor	IDA
GO:0001936	regulation of endothelial cell proliferation	IDA
GO:1903670	regulation of sprouting angiogenesis	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	TAS
GO:0005730	nucleolus	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-109704	PI3K Cascade	TAS
R-HSA-112399	IRS-mediated signalling	TAS
R-HSA-1226099	Signaling by FGFR in disease	TAS
R-HSA-1257604	PIP3 activates AKT signaling	TAS
R-HSA-1280215	Cytokine Signaling in Immune system	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1643685	Disease	TAS
R-HSA-168256	Immune System	TAS
R-HSA-1839126	FGFR2 mutant receptor activation	TAS
R-HSA-1839130	Signaling by activated point mutants of FGFR3	TAS
R-HSA-190236	Signaling by FGFR	TAS
R-HSA-190239	FGFR3 ligand binding and activation	TAS
R-HSA-190241	FGFR2 ligand binding and activation	TAS
R-HSA-190322	FGFR4 ligand binding and activation	TAS
R-HSA-190371	FGFR3b ligand binding and activation	TAS
R-HSA-190372	FGFR3c ligand binding and activation	TAS
R-HSA-190375	FGFR2c ligand binding and activation	TAS
R-HSA-199418	Negative regulation of the PI3K/AKT network	TAS
R-HSA-2033514	FGFR3 mutant receptor activation	TAS
R-HSA-2033519	Activated point mutants of FGFR2	TAS
R-HSA-2219528	PI3K/AKT Signaling in Cancer	TAS
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer	TAS
R-HSA-2404192	Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	TAS
R-HSA-2428924	IGF1R signaling cascade	TAS
R-HSA-2428928	IRS-related events triggered by IGF1R	TAS
R-HSA-5654221	Phospholipase C-mediated cascade; FGFR2	TAS
R-HSA-5654227	Phospholipase C-mediated cascade; FGFR3	TAS
R-HSA-5654228	Phospholipase C-mediated cascade; FGFR4	TAS
R-HSA-5654695	PI-3K cascade:FGFR2	TAS
R-HSA-5654696	Downstream signaling of activated FGFR2	TAS
R-HSA-5654699	SHC-mediated cascade:FGFR2	TAS
R-HSA-5654700	FRS-mediated FGFR2 signaling	TAS
R-HSA-5654704	SHC-mediated cascade:FGFR3	TAS
R-HSA-5654706	FRS-mediated FGFR3 signaling	TAS
R-HSA-5654708	Downstream signaling of activated FGFR3	TAS
R-HSA-5654710	PI-3K cascade:FGFR3	TAS
R-HSA-5654712	FRS-mediated FGFR4 signaling	TAS
R-HSA-5654716	Downstream signaling of activated FGFR4	TAS
R-HSA-5654719	SHC-mediated cascade:FGFR4	TAS
R-HSA-5654720	PI-3K cascade:FGFR4	TAS
R-HSA-5654727	Negative regulation of FGFR2 signaling	TAS
R-HSA-5654732	Negative regulation of FGFR3 signaling	TAS
R-HSA-5654733	Negative regulation of FGFR4 signaling	TAS
R-HSA-5654736	Signaling by FGFR1	TAS
R-HSA-5654738	Signaling by FGFR2	TAS
R-HSA-5654741	Signaling by FGFR3	TAS
R-HSA-5654743	Signaling by FGFR4	TAS
R-HSA-5655253	Signaling by FGFR2 in disease	TAS
R-HSA-5655332	Signaling by FGFR3 in disease	TAS
R-HSA-5658623	FGFRL1 modulation of FGFR1 signaling	TAS
R-HSA-5663202	Diseases of signal transduction	TAS
R-HSA-5673001	RAF/MAP kinase cascade	TAS
R-HSA-5683057	MAPK family signaling cascades	TAS
R-HSA-5684996	MAPK1/MAPK3 signaling	TAS
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	TAS
R-HSA-74751	Insulin receptor signalling cascade	TAS
R-HSA-74752	Signaling by Insulin receptor	TAS
R-HSA-8853338	Signaling by FGFR3 point mutants in cancer	TAS
R-HSA-9006925	Intracellular signaling by second messengers	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	TAS
R-HSA-9607240	FLT3 Signaling	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C016780	11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of FGF18 gene	30521419
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of FGF18 mRNA	29038090
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of FGF18 mRNA	28329830
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of FGF18 mRNA	19933214
C018855	2-tert-butylhydroquinone	2-tert-butylhydroquinone results in decreased expression of FGF18 mRNA	16014739
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FGF18 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FGF18 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FGF18 mRNA	27188386
C496492	abrine	abrine results in increased expression of FGF18 mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of FGF18 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of FGF18 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of FGF18 intron	30157460
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of FGF18 mRNA	16483693
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in increased expression of FGF18 mRNA	26680231
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of FGF18 mRNA	29950665
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of FGF18 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of FGF18 mRNA	21569818
C006780	bisphenol A	bisphenol A affects the expression of FGF18 mRNA	20170705
C006780	bisphenol A	bisphenol A results in increased expression of FGF18 mRNA	27022677; 30892605;
C006780	bisphenol A	Fulvestrant inhibits the reaction [bisphenol A results in increased expression of FGF18 mRNA]	30892605
C006780	bisphenol A	bisphenol A results in decreased expression of FGF18 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in increased expression of FGF18 mRNA	26079696
D002186	Cannabinoids	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of FGF18 gene	30521419
D002220	Carbamazepine	Carbamazepine affects the expression of FGF18 mRNA	25979313
D002737	Chloroprene	Chloroprene results in decreased expression of FGF18 mRNA	23125180
D004390	Chlorpyrifos	Chlorpyrifos affects the expression of FGF18 mRNA	18502319
D002809	Chondroitin Sulfates	Chondroitin Sulfates analog binds to FGF18 protein	12221095
D002809	Chondroitin Sulfates	[Chondroitin Sulfates binds to Dermatan Sulfate] which binds to FGF18 protein	15385557
D002809	Chondroitin Sulfates	[Chondroitin Sulfates binds to Dermatan Sulfate] which binds to FGF18 protein	14699094
D002945	Cisplatin	Cisplatin results in increased expression of FGF18 mRNA	27392435
D002994	Clofibrate	Clofibrate results in increased expression of FGF18 mRNA	16081524
D019327	Copper Sulfate	Copper Sulfate affects the expression of FGF18 mRNA	19549813
D003471	Cuprizone	Cuprizone results in decreased expression of FGF18 mRNA	26577399
D016572	Cyclosporine	Cyclosporine results in decreased expression of FGF18 mRNA	22147139
D016572	Cyclosporine	Cyclosporine results in decreased methylation of FGF18 promoter	27989131
D003871	Dermatan Sulfate	[Chondroitin Sulfates binds to Dermatan Sulfate] which binds to FGF18 protein	15385557
D003871	Dermatan Sulfate	[Chondroitin Sulfates binds to Dermatan Sulfate] which binds to FGF18 protein	14699094
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of FGF18 mRNA	29950665
C058705	diethyl malate	diethyl malate affects the expression of FGF18 mRNA	24814887
C058705	diethyl malate	S-ethyl glutathione inhibits the reaction [diethyl malate affects the expression of FGF18 mRNA]	24814887
C558012	diisononyl 1,2-cyclohexanedicarboxylic acid	diisononyl 1,2-cyclohexanedicarboxylic acid results in increased expression of FGF18 mRNA	29945229
D004237	Diuron	Diuron results in decreased expression of FGF18 mRNA	25152437
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FGF18 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FGF18 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FGF18 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of FGF18 mRNA	29803840
C118739	entinostat	entinostat results in increased expression of FGF18 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FGF18 mRNA	27188386
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of FGF18 mRNA	22079256
D004958	Estradiol	Estradiol affects the expression of FGF18 mRNA	25321415
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in decreased expression of FGF18 mRNA	17404688
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of FGF18 mRNA	28329830
C007738	fluoranthene	fluoranthene results in decreased expression of FGF18 mRNA	28329830
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [bisphenol A results in increased expression of FGF18 mRNA]	30892605
D006497	Heparitin Sulfate	Heparitin Sulfate analog binds to FGF18 protein	14707131
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of FGF18 mRNA	26752646
C008261	lead acetate	lead acetate results in decreased expression of FGF18 mRNA	22609695
D008748	Methylcholanthrene	[Methylcholanthrene co-treated with Tetradecanoylphorbol Acetate] results in increased expression of FGF18 mRNA	23519560
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of FGF18 mRNA	28001369
C004925	methylmercuric chloride	methylmercuric chloride affects the expression of FGF18 mRNA	20864626
D037742	Nanotubes, Carbon	Nanotubes, Carbon affects the expression of FGF18 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of FGF18 mRNA	25554681
D009532	Nickel	Nickel results in decreased expression of FGF18 mRNA	19130878
C007350	nitrofen	nitrofen results in decreased expression of FGF18 mRNA	23979401
C007350	nitrofen	nitrofen results in decreased expression of FGF18 protein	23979401
C025589	ochratoxin A	ochratoxin A results in increased expression of FGF18 mRNA	22124623
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FGF18 mRNA	27188386
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in increased expression of FGF18 mRNA	26705709
C046012	pentanal	pentanal results in increased expression of FGF18 mRNA	26079696
D010656	Phenylephrine	Phenylephrine results in increased expression of FGF18 mRNA	18158353
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FGF18 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of FGF18 mRNA	26272509
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of FGF18 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of FGF18 mRNA	22079256
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in decreased expression of FGF18 mRNA	17404688
D011374	Progesterone	Progesterone results in decreased expression of FGF18 mRNA	18037150
D011794	Quercetin	Quercetin results in increased expression of FGF18 mRNA	21632981
C042431	S-ethyl glutathione	S-ethyl glutathione inhibits the reaction [diethyl malate affects the expression of FGF18 mRNA]	24814887
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of FGF18 mRNA	23806026
C003377	taxifolin	taxifolin results in decreased expression of FGF18 mRNA	17541156
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FGF18 mRNA	30203000
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of FGF18 mRNA	19933214
D013755	Tetradecanoylphorbol Acetate	[Methylcholanthrene co-treated with Tetradecanoylphorbol Acetate] results in increased expression of FGF18 mRNA	23519560
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of FGF18 mRNA	29950665
D014212	Tretinoin	Tretinoin results in increased expression of FGF18 mRNA	21934132
D014212	Tretinoin	Tretinoin results in increased expression of FGF18 mRNA	20488242
C012589	trichostatin A	trichostatin A results in increased expression of FGF18 mRNA	24935251
D014284	Triiodothyronine	Triiodothyronine promotes the reaction [FGF18 protein results in increased phosphorylation of MAPK1 protein]	16150908
D014284	Triiodothyronine	Triiodothyronine promotes the reaction [FGF18 protein results in increased phosphorylation of MAPK3 protein]	16150908
D014520	Urethane	Urethane results in increased expression of FGF18 mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of FGF18 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of FGF18 mRNA	24383497; 24935251;
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of FGF18 gene	25560391
D000077337	Vorinostat	Vorinostat results in decreased expression of FGF18 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of FGF18 mRNA	18769122
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of FGF18 mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR028289	FGF18
IPR002209	Fibroblast_GF_fam
IPR008996	IL1/FGF

PROSITE

PROSITE ID	PROSITE Term
PS00247	HBGF_FGF

Pfam

Pfam ID	Pfam Term
PF00167	FGF

Gene: FGF18

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction