CleftGeneDB-Search

Gene: Fgf8

Basic information

Tag	Content
Uniprot ID	P37237
Entrez ID	14179
Genbank protein ID	BAA02050.1; CAA88637.1; BAA02051.1; AAA65387.1;
Genbank nucleotide ID	NM_001166363.1; NM_010205.2; NM_001166362.1;
Ensembl protein ID	ENSMUSP00000107558; ENSMUSP00000107559; ENSMUSP00000026241;
Ensembl nucleotide ID	ENSMUSG00000025219
Gene name	Fibroblast growth factor 8
Gene symbol	Fgf8
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO,CLP
Developmental stage	E13.5, E16.5
Data sources	Manually collected
Reference	12223415; 10601039; 25381013; 26243590;
Functional description	Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Plays a role in neurite outgrowth in hippocampal cells (By similarity). Cooperates with Wnt-1 in mouse mammary tumor virus-induced murine mammary tumorigenesis (PubMed:7884899).
Sequence	MGSPRSALSC LLLHLLVLCL QAQVRSAAQK RGPGAGNPAD TLGQGHEDRP FGQRSRAGKN 60 FTNPAPNYPE EGSKEQRDSV LPKVTQRHVR EQSLVTDQLS RRLIRTYQLY SRTSGKHVQV 120 LANKRINAMA EDGDPFAKLI VETDTFGSRV RVRGAETGLY ICMNKKGKLI AKSNGKGKDC 180 VFTEIVLENN YTALQNAKYE GWYMAFTRKG RPRKGSKTRQ HQREVHFMKR LPRGHHTTEQ 240 SLRFEFLNYP PFTRSLRGSQ RTWAPEPR 268

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 during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	FGF8	326284	F1N6G8			Bos taurus	Prediction	More>>
1:1 ortholog	FGF8		A0A452EXW2			Capra hircus	Prediction	More>>
1:1 ortholog	FGF8	2253	P55075			Homo sapiens	Prediction	More>>
1:1 ortholog	Fgf8	14179	P37237	CPO,CLP	E13.5, E16.5	Mus musculus	Publication	More>>
1:1 ortholog	FGF8		H2Q2G4			Pan troglodytes	Prediction	More>>
1:1 ortholog	FGF8		A0A287B086			Sus scrofa	Prediction	More>>
1:1 ortholog	Fgf8	29349	Q76LI5			Rattus norvegicus	Prediction	More>>
1:1 ortholog	fgf8a		A2CF52			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs226205582	p.Asn37Asp	missense variant	-	NC_000085.6:g.45742476T>C	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005105	type 1 fibroblast growth factor receptor binding	ISO
GO:0005111	type 2 fibroblast growth factor receptor binding	ISO
GO:0008083	growth factor activity	ISO
GO:0042056	chemoattractant activity	ISO

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000165	MAPK cascade	IMP
GO:0001569	branching involved in blood vessel morphogenesis	IGI
GO:0001656	metanephros development	IEA
GO:0001658	branching involved in ureteric bud morphogenesis	IMP
GO:0001759	organ induction	IGI
GO:0001822	kidney development	IMP
GO:0001839	neural plate morphogenesis	IMP
GO:0001947	heart looping	IMP
GO:0001974	blood vessel remodeling	IGI
GO:0003007	heart morphogenesis	IMP
GO:0003148	outflow tract septum morphogenesis	IGI
GO:0003151	outflow tract morphogenesis	IGI
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	IMP
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	IDA
GO:0006979	response to oxidative stress	ISO
GO:0007368	determination of left/right symmetry	IMP
GO:0007507	heart development	IMP
GO:0008045	motor neuron axon guidance	ISO
GO:0008078	mesodermal cell migration	IMP
GO:0008284	positive regulation of cell population proliferation	ISO
GO:0008284	positive regulation of cell population proliferation	IDA
GO:0008284	positive regulation of cell population proliferation	IGI
GO:0008284	positive regulation of cell population proliferation	IMP
GO:0008406	gonad development	ISO
GO:0008543	fibroblast growth factor receptor signaling pathway	ISO
GO:0008543	fibroblast growth factor receptor signaling pathway	IDA
GO:0008543	fibroblast growth factor receptor signaling pathway	IMP
GO:0009792	embryo development ending in birth or egg hatching	IMP
GO:0010628	positive regulation of gene expression	IMP
GO:0010628	positive regulation of gene expression	IDA
GO:0010628	positive regulation of gene expression	IGI
GO:0021537	telencephalon development	IMP
GO:0021543	pallium development	IMP
GO:0021544	subpallium development	IMP
GO:0021798	forebrain dorsal/ventral pattern formation	IMP
GO:0021846	cell proliferation in forebrain	IMP
GO:0021884	forebrain neuron development	ISO
GO:0021954	central nervous system neuron development	ISO
GO:0023019	signal transduction involved in regulation of gene expression	IDA
GO:0030324	lung development	IMP
GO:0030539	male genitalia development	IDA
GO:0030878	thyroid gland development	IGI
GO:0030878	thyroid gland development	IMP
GO:0030916	otic vesicle formation	IGI
GO:0030916	otic vesicle formation	TAS
GO:0030917	midbrain-hindbrain boundary development	IMP
GO:0033563	dorsal/ventral axon guidance	ISO
GO:0035050	embryonic heart tube development	IMP
GO:0035108	limb morphogenesis	IGI
GO:0035116	embryonic hindlimb morphogenesis	IGI
GO:0035909	aorta morphogenesis	IGI
GO:0042472	inner ear morphogenesis	IGI
GO:0042476	odontogenesis	IEA
GO:0042487	regulation of odontogenesis of dentin-containing tooth	IGI
GO:0043066	negative regulation of apoptotic process	IGI
GO:0043066	negative regulation of apoptotic process	IMP
GO:0043524	negative regulation of neuron apoptotic process	IMP
GO:0045165	cell fate commitment	IGI
GO:0045745	positive regulation of G protein-coupled receptor signaling pathway	IDA
GO:0045840	positive regulation of mitotic nuclear division	IDA
GO:0046622	positive regulation of organ growth	IGI
GO:0046622	positive regulation of organ growth	IMP
GO:0048699	generation of neurons	IMP
GO:0048853	forebrain morphogenesis	IMP
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IMP
GO:0050918	positive chemotaxis	IEA
GO:0051781	positive regulation of cell division	IEA
GO:0055026	negative regulation of cardiac muscle tissue development	ISO
GO:0060037	pharyngeal system development	IGI
GO:0060128	corticotropin hormone secreting cell differentiation	IDA
GO:0060129	thyroid-stimulating hormone-secreting cell differentiation	IDA
GO:0060348	bone development	ISO
GO:0060425	lung morphogenesis	IMP
GO:0060445	branching involved in salivary gland morphogenesis	IGI
GO:0060445	branching involved in salivary gland morphogenesis	IMP
GO:0060563	neuroepithelial cell differentiation	ISO
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IGI
GO:0071542	dopaminergic neuron differentiation	ISO
GO:0071542	dopaminergic neuron differentiation	TAS
GO:0090134	cell migration involved in mesendoderm migration	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	ISO
GO:0009897	external side of plasma membrane	ISO

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-109704	PI3K Cascade	IEA
R-MMU-112399	IRS-mediated signalling	IEA
R-MMU-1257604	PIP3 activates AKT signaling	IEA
R-MMU-1280215	Cytokine Signaling in Immune system	IEA
R-MMU-162582	Signal Transduction	IEA
R-MMU-168256	Immune System	IEA
R-MMU-190236	Signaling by FGFR	IEA
R-MMU-190239	FGFR3 ligand binding and activation	IEA
R-MMU-190241	FGFR2 ligand binding and activation	IEA
R-MMU-190242	FGFR1 ligand binding and activation	IEA
R-MMU-190322	FGFR4 ligand binding and activation	IEA
R-MMU-190371	FGFR3b ligand binding and activation	IEA
R-MMU-190372	FGFR3c ligand binding and activation	IEA
R-MMU-190373	FGFR1c ligand binding and activation	IEA
R-MMU-190375	FGFR2c ligand binding and activation	IEA
R-MMU-199418	Negative regulation of the PI3K/AKT network	IEA
R-MMU-2404192	Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	IEA
R-MMU-2428924	IGF1R signaling cascade	IEA
R-MMU-2428928	IRS-related events triggered by IGF1R	IEA
R-MMU-5654219	Phospholipase C-mediated cascade: FGFR1	IEA
R-MMU-5654221	Phospholipase C-mediated cascade; FGFR2	IEA
R-MMU-5654227	Phospholipase C-mediated cascade; FGFR3	IEA
R-MMU-5654228	Phospholipase C-mediated cascade; FGFR4	IEA
R-MMU-5654687	Downstream signaling of activated FGFR1	IEA
R-MMU-5654688	SHC-mediated cascade:FGFR1	IEA
R-MMU-5654689	PI-3K cascade:FGFR1	IEA
R-MMU-5654693	FRS-mediated FGFR1 signaling	IEA
R-MMU-5654695	PI-3K cascade:FGFR2	IEA
R-MMU-5654696	Downstream signaling of activated FGFR2	IEA
R-MMU-5654699	SHC-mediated cascade:FGFR2	IEA
R-MMU-5654700	FRS-mediated FGFR2 signaling	IEA
R-MMU-5654704	SHC-mediated cascade:FGFR3	IEA
R-MMU-5654706	FRS-mediated FGFR3 signaling	IEA
R-MMU-5654708	Downstream signaling of activated FGFR3	IEA
R-MMU-5654710	PI-3K cascade:FGFR3	IEA
R-MMU-5654712	FRS-mediated FGFR4 signaling	IEA
R-MMU-5654716	Downstream signaling of activated FGFR4	IEA
R-MMU-5654719	SHC-mediated cascade:FGFR4	IEA
R-MMU-5654720	PI-3K cascade:FGFR4	IEA
R-MMU-5654726	Negative regulation of FGFR1 signaling	IEA
R-MMU-5654727	Negative regulation of FGFR2 signaling	IEA
R-MMU-5654732	Negative regulation of FGFR3 signaling	IEA
R-MMU-5654733	Negative regulation of FGFR4 signaling	IEA
R-MMU-5654736	Signaling by FGFR1	IEA
R-MMU-5654738	Signaling by FGFR2	IEA
R-MMU-5654741	Signaling by FGFR3	IEA
R-MMU-5654743	Signaling by FGFR4	IEA
R-MMU-5658623	FGFRL1 modulation of FGFR1 signaling	IEA
R-MMU-5673001	RAF/MAP kinase cascade	IEA
R-MMU-5683057	MAPK family signaling cascades	IEA
R-MMU-5684996	MAPK1/MAPK3 signaling	IEA
R-MMU-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	IEA
R-MMU-74751	Insulin receptor signalling cascade	IEA
R-MMU-74752	Signaling by Insulin receptor	IEA
R-MMU-9006925	Intracellular signaling by second messengers	IEA
R-MMU-9006934	Signaling by Receptor Tyrosine Kinases	IEA
R-MMU-9607240	FLT3 Signaling	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0903	Direct protein sequencing
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-0497	Mitogen
KW-0873	Pyrrolidone carboxylic acid
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR028249	FGF8
IPR002209	Fibroblast_GF_fam
IPR008996	IL1/FGF

PROSITE

PROSITE ID	PROSITE Term
PS00247	HBGF_FGF

Pfam

Pfam ID	Pfam Term
PF00167	FGF

Gene: Fgf8

Basic information

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-miRNA interaction