Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8823
Gene name	Fibroblast growth factor 16
Gene symbol	FGF16
Synonyms (NCBI Gene)	FGF-16MF4
Chromosome	X
Chromosome location	Xq21.1
Summary	This gene encodes a member of a family of proteins that are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene is expressed in cardiac cells and i

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777050	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777051	C>A	Pathogenic	Stop gained, coding sequence variant
rs606231304	->GAATCCTGGAGTTTATCAG	Likely-pathogenic, pathogenic	Splice acceptor variant, coding sequence variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016941	hsa-miR-335-5p	Microarray	18185580

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Transcription factor	Regulation	Reference
PITX2	Unknown	24253043

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001936	Process	Regulation of endothelial cell proliferation	IDA	16756958
GO:0005104	Function	Fibroblast growth factor receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	TAS	9473496
GO:0005737	Component	Cytoplasm	IBA
GO:0007165	Process	Signal transduction	TAS	9473496
GO:0007267	Process	Cell-cell signaling	TAS	9473496
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	TAS	9473496
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA
GO:0009266	Process	Response to temperature stimulus	TAS	9473496
GO:0009887	Process	Animal organ morphogenesis	TAS	9473496
GO:0022008	Process	Neurogenesis	IBA
GO:0030334	Process	Regulation of cell migration	IBA
GO:0043405	Process	Regulation of MAP kinase activity	IDA	16756958
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:1903670	Process	Regulation of sprouting angiogenesis	IDA	16756958
GO:2000546	Process	Positive regulation of endothelial cell chemotaxis to fibroblast growth factor	IDA	16756958

MIM	HGNC	e!Ensembl
300827	3672	ENSG00000196468

O43320

Protein name

Fibroblast growth factor 16 (FGF-16)

Protein function

Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00167	FGF	61 → 187	Fibroblast growth factor	Domain

Sequence

MAEVGGVFASLDWDLHGFSSSLGNVPLADSPGFLNERLGQIEGKLQRGSPTDFAHLKGIL
RRRQLYCRTGFHLEIFPNGTVHGTRHDHSRFGILEFISLAVGLISIRGVDSGLYLGMNER
GELYGSKKLTRECVFREQFEENWYNTYASTLYKHSDSERQYYVALNKDGSPREGYRTKRH
QKFTHFLPRPVDPSKLPSMSRDLFHYR

Sequence length

207

Interactions

View interactions

	KEGG		Reactome
	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway PI3K-Akt signaling pathway Regulation of actin cytoskeleton Pathways in cancer Chemical carcinogenesis - receptor activation Melanoma Breast cancer Gastric cancer		PI3K Cascade PIP3 activates AKT signaling Signaling by activated point mutants of FGFR3 FGFR4 ligand binding and activation FGFR3c ligand binding and activation FGFR2c ligand binding and activation FGFR3 mutant receptor activation Activated point mutants of FGFR2 Constitutive Signaling by Aberrant PI3K in Cancer Phospholipase C-mediated cascade; FGFR2 Phospholipase C-mediated cascade; FGFR3 Phospholipase C-mediated cascade; FGFR4 PI-3K cascade:FGFR2 SHC-mediated cascade:FGFR2 FRS-mediated FGFR2 signaling SHC-mediated cascade:FGFR3 FRS-mediated FGFR3 signaling PI-3K cascade:FGFR3 FRS-mediated FGFR4 signaling SHC-mediated cascade:FGFR4 PI-3K cascade:FGFR4 Negative regulation of FGFR2 signaling Negative regulation of FGFR3 signaling Negative regulation of FGFR4 signaling Signaling by FGFR2 in disease RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Signaling by FGFR3 point mutants in cancer

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FGF16-related disorder	Likely pathogenic	rs2519850121	RCV003400001	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndactyly type 8	Likely pathogenic; Pathogenic	rs606231304, rs587777050, rs587777051	RCV000148011 RCV000056296 RCV000056297	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, ADENOID CYSTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	25747126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	40082977	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	40082977	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37222403	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28409700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hand Deformities	Congenital anomaly of the hand	BEFREE	24706454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31292167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	31292167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28921304, 29312628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28409700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28469770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28409700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24253043	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	40082977	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33661721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	31596367		★★★★★ ★☆☆☆☆ Found in Text Mining only

FGF16 (fibroblast growth factor 16)