CleftGeneDB-Search

Gene: Fgf3

Basic information

Tag	Content
Uniprot ID	Q0VG15
Entrez ID	14174
Genbank protein ID	AAI17060.1; AAI17062.1;
Genbank nucleotide ID	XM_011241980.2; NM_008007.2;
Ensembl protein ID	ENSMUSP00000101518
Ensembl nucleotide ID	ENSMUSG00000031074
Gene name	Fibroblast growth factor
Gene symbol	Fgf3
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage	E14.5, E16.5
Data sources	Homology search
Reference
Functional description
Sequence	MGLIWLLLLS LLEPSWPTTG PGTRLRRDAG GRGGVYEHLG GAPRRRKLYC ATKYHLQLHP 60 SGRVNGSLEN SAYSILEITA VEVGVVAIKG LFSGRYLAMN KRGRLYASDH YNAECEFVER 120 IHELGYNTYA SRLYRTGSSG PGAQRQPGAQ RPWYVSVNGK GRPRRGFKTR RTQKSSLFLP 180 RVLGHKDHEM VRLLQSSQPR APGEGSQPRQ RRQKKQSPSD HGKMETLSTR ATPSTQLHTG 240 GLAVA 245

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Protein disorder visualization from D2P2 is currently unavailable.

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Developmental stage	Species	Evidence	Details
1:1 ortholog	FGF3	108634211	A0A452DMM2		Capra hircus	Prediction	More>>
1:1 ortholog	FGF3	2248	P11487		Homo sapiens	Publication	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>>

Identified variants/mutations related to cleft phenotype

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

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs264887410	p.Arg200Gly	missense variant	-	NC_000073.6:g.144842848C>G	UniProt
rs227671122	p.Ser219Gly	missense variant	-	NC_000073.6:g.144842905A>G	UniProt
rs219466677	p.Met224Ile	missense variant	-	NC_000073.6:g.144842922G>A	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0339	Growth factor
KW-1185	Reference proteome
KW-0732	Signal

Interpro

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

PROSITE

PROSITE ID	PROSITE Term
PS00247	HBGF_FGF

Pfam

Pfam ID	Pfam Term
PF00167	FGF