CleftGeneDB-Search

Gene: FGF3

Basic information

Tag	Content
Uniprot ID	P11487; Q0VG69;
Entrez ID	2248
Genbank protein ID	CAA32615.1; AAI13740.1;
Genbank nucleotide ID	NM_005247.2
Ensembl protein ID	ENSP00000334122
Ensembl nucleotide ID	ENSG00000186895
Gene name	Fibroblast growth factor 3
Gene symbol	FGF3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	24697712
Functional description	Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development.
Sequence	MGLIWLLLLS LLEPGWPAAG PGARLRRDAG GRGGVYEHLG GAPRRRKLYC ATKYHLQLHP 60 SGRVNGSLEN SAYSILEITA VEVGIVAIRG LFSGRYLAMN KRGRLYASEH YSAECEFVER 120 IHELGYNTYA SRLYRTVSST PGARRQPSAE RLWYVSVNGK GRPRRGFKTR RTQKSSLFLP 180 RVLDHRDHEM VRQLQSGLPR PPGKGVQPRR RRQKQSPDNL EPSHVQASRL GSQLEASAH 239

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)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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Relation	Gene symbol	Entrez ID	UniProt ID	Developmental stage	Species	Evidence	Details
1:1 ortholog	FGF3	2248	P11487		Homo sapiens	Publication	More>>
1:1 ortholog	FGF3	108634211	A0A452DMM2		Capra hircus	Prediction	More>>
1:1 ortholog	Fgf3	14174	Q0VG15	E14.5, E16.5	Mus musculus	Prediction	More>>
1:1 ortholog	FGF3	466693	H2Q4B5		Pan troglodytes	Prediction	More>>
1:1 ortholog	Fgf3	170633	Q8R5L9		Rattus norvegicus	Prediction	More>>
1:1 ortholog	fgf3	30549	P48802		Danio rerio	Prediction	More>>

Showing 1 to 6 of 6 entries

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Identified variants/mutations related to cleft phenotype

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Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
FGF3	rs4980700	Genotyping	24697712

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Other genetic variants/mutations

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ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs121917706	p.Leu6Pro	missense variant	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	NC_000011.10:g.69818917A>G	UniProt,dbSNP
rs121917703	p.Ser156Pro	missense variant	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	NC_000011.10:g.69810559A>G	UniProt,dbSNP
VAR_060492	p.Leu6Pro	missense variant	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	NC_000011.10:g.69818917A>G	UniProt
VAR_031848	p.Ser156Pro	missense variant	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	NC_000011.10:g.69810559A>G	UniProt
rs1214505914	p.Ala18Val	missense variant	-	NC_000011.10:g.69818881G>A	TOPMed,gnomAD
rs901877047	p.Gly30Asp	missense variant	-	NC_000011.10:g.69818845C>T	TOPMed,gnomAD
rs1039515359	p.Gly34Cys	missense variant	-	NC_000011.10:g.69818834C>A	TOPMed,gnomAD
rs1430586811	p.Val35Ile	missense variant	-	NC_000011.10:g.69818831C>T	TOPMed,gnomAD
rs1430586811	p.Val35Phe	missense variant	-	NC_000011.10:g.69818831C>A	TOPMed,gnomAD
rs1296941402	p.Glu37Gln	missense variant	-	NC_000011.10:g.69818825C>G	TOPMed,gnomAD
rs1317320809	p.Lys47Asn	missense variant	-	NC_000011.10:g.69818793C>A	TOPMed,gnomAD
rs1188817570	p.His59Gln	missense variant	-	NC_000011.10:g.69818757G>T	TOPMed,gnomAD
rs929527246	p.Arg63His	missense variant	-	NC_000011.10:g.69818746C>T	TOPMed,gnomAD
rs1471911794	p.Asn65Lys	missense variant	-	NC_000011.10:g.69818739G>C	TOPMed,gnomAD
rs1419524448	p.Ala72Thr	missense variant	-	NC_000011.10:g.69818720C>T	TOPMed,gnomAD
rs1450391872	p.Ile88Phe	missense variant	-	NC_000011.10:g.69816382T>A	TOPMed,gnomAD
rs1204634476	p.Tyr96Ter	stop gained	-	NC_000011.10:g.69816357dup	TOPMed,gnomAD
rs782098384	p.Tyr106Ter	stop gained	-	NC_000011.10:g.69816326A>T	TOPMed,gnomAD
rs1052333347	p.Glu109Lys	missense variant	-	NC_000011.10:g.69810700C>T	TOPMed,gnomAD
rs1239990487	p.His122Gln	missense variant	-	NC_000011.10:g.69810659G>C	TOPMed,gnomAD

Showing 1 to 20 of 298 entries

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Disease or phenotype associated information

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Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0000846	Agenesis	disease	BEFREE
C0001175	Acquired Immunodeficiency Syndrome	group	BEFREE
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE
C0002448	Ameloblastoma	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE;CGI;CTD_human
C0007095	Carcinoid Tumor	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0008924	Cleft upper lip	disease	CTD_human;LHGDN
C0008925	Cleft Palate	disease	CTD_human
C0009363	Congenital ocular coloboma (disorder)	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011053	Deafness	phenotype	LHGDN
C0011334	Dental caries	disease	HPO
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0011884	Diabetic Retinopathy	disease	BEFREE

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

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GO ID	GO Term	Evidence
GO:0005104	fibroblast growth factor receptor binding	IEA
GO:0005515	protein binding	IPI
GO:0008083	growth factor activity	IEA

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GO:Biological Process

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GO ID	GO Term	Evidence
GO:0000165	MAPK cascade	TAS
GO:0007165	signal transduction	TAS
GO:0007267	cell-cell signaling	TAS
GO:0007275	multicellular organism development	IEA
GO:0008284	positive regulation of cell population proliferation	IGI
GO:0008543	fibroblast growth factor receptor signaling pathway	IGI
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS
GO:0009653	anatomical structure morphogenesis	TAS
GO:0030154	cell differentiation	IEA
GO:0051781	positive regulation of cell division	IEA
GO:0051897	positive regulation of protein kinase B signaling	TAS
GO:0055026	negative regulation of cardiac muscle tissue development	IMP

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GO:Cellular Component

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GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS

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Reactome Pathway

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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-190236	Signaling by FGFR	TAS
R-HSA-190241	FGFR2 ligand binding and activation	TAS
R-HSA-190242	FGFR1 ligand binding and activation	TAS
R-HSA-190370	FGFR1b ligand binding and activation	TAS
R-HSA-190377	FGFR2b ligand binding and activation	TAS
R-HSA-199418	Negative regulation of the PI3K/AKT network	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

Showing 1 to 20 of 47 entries

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Drugs and compounds information

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ID	Drug Name	Action	PubMed
C003377	taxifolin	taxifolin results in decreased expression of FGF3 mRNA	17541156
C006780	bisphenol A	bisphenol A results in decreased expression of FGF3 mRNA	25181051
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FGF3 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FGF3 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FGF3 mRNA	25510870
C017947	sodium arsenite	sodium arsenite affects the methylation of FGF3 gene	28589171
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FGF3 mRNA	25510870
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FGF3 mRNA	25510870
C105686	SU 5402	SU 5402 results in decreased expression of FGF3 mRNA	15355794
C105686	SU 5402	SU 5402 results in decreased expression of FGF3 mRNA	12421715
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FGF3 mRNA	25510870
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of FGF3 mRNA	30951980
C549543	3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid	3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid analog results in increased expression of FGF3 mRNA	25716159
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of FGF3 mRNA	26752646
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of FGF3 mRNA	16483693
D004008	Diclofenac	Diclofenac results in increased expression of FGF3 mRNA	26934552
D004958	Estradiol	[Estradiol binds to ESR2 protein] which results in increased expression of FGF3 mRNA	20404318
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of FGF3 mRNA	23550701
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of FGF3 mRNA	23129252
D006493	Heparin	Heparin affects the activity of FGF3 protein	7592624

Showing 1 to 20 of 30 entries

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Functional annotations

Keywords

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Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-0497	Mitogen
KW-0656	Proto-oncogene
KW-0732	Signal
KW-0964	Secreted
KW-1185	Reference proteome

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Interpro

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InterPro ID	InterPro Term
IPR002209	Fibroblast_GF_fam
IPR008996	IL1/FGF
IPR028232	FGF3

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PROSITE

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PROSITE ID	PROSITE Term
PS00247	HBGF_FGF

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Pfam

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Pfam ID	Pfam Term
PF00167	FGF

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Gene: FGF3

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

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