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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	26281
Gene name	Fibroblast growth factor 20
Gene symbol	FGF20
Synonyms (NCBI Gene)	FGF-20RHDA2
Chromosome	8
Chromosome location	8p22
Summary	The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development,

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777282	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1585100306	C>T	Likely-pathogenic	Splice acceptor variant

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001741	hsa-miR-433-3p	Luciferase reporter assayWestern blot	18252210
MIRT001741	hsa-miR-433-3p	Luciferase reporter assay	18252210
MIRT001741	hsa-miR-433-3p	Other	18252210
MIRT2229346	hsa-miR-1236	CLIP-seq
MIRT2229347	hsa-miR-587	CLIP-seq
MIRT2229348	hsa-miR-668	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	TAS	11306498
GO:0005104	Function	Fibroblast growth factor receptor binding	IBA
GO:0005104	Function	Fibroblast growth factor receptor binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	10913340
GO:0005615	Component	Extracellular space	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0007165	Process	Signal transduction	TAS	10913340
GO:0007267	Process	Cell-cell signaling	TAS	10913340
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	11306498
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	TAS	11306498, 16988046
GO:0014059	Process	Regulation of dopamine secretion	TAS	16988046
GO:0022008	Process	Neurogenesis	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030334	Process	Regulation of cell migration	IBA
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0043395	Function	Heparan sulfate proteoglycan binding	TAS	11306498
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IDA	16988046
GO:0045664	Process	Regulation of neuron differentiation	IEA
GO:0060043	Process	Regulation of cardiac muscle cell proliferation	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0090722	Function	Receptor-receptor interaction	IDA	24157794
GO:1904340	Process	Positive regulation of dopaminergic neuron differentiation	TAS	18982104

MIM	HGNC	e!Ensembl
605558	3677	ENSG00000078579

Q9NP95

Protein name

Fibroblast growth factor 20 (FGF-20)

Protein function

Neurotrophic factor that regulates central nervous development and function.

PDB

3F1R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00167	FGF	65 → 191	Fibroblast growth factor	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in the cerebellum. {ECO:0000269|PubMed:11306498}.

Sequence

MAPLAEVGGFLGGLEGLGQQVGSHFLLPPAGERPPLLGERRSAAERSARGGPGAAQLAHL
HGILRRRQLYCRTGFHLQILPDGSVQGTRQDHSLFGILEFISVAVGLVSIRGVDSGLYLG
MNDKGELYGSEKLTSECIFREQFEENWYNTYSSNIYKHGDTGRRYFVALNKDGTPRDGAR
SKRHQKFTHFLPRPVDPERVPELYKDLLMYT

Sequence length

211

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 FGFR1 Signaling by activated point mutants of FGFR3 FGFR4 ligand binding and activation FGFR3b ligand binding and activation FGFR3c ligand binding and activation FGFR1c 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: FGFR1 Phospholipase C-mediated cascade; FGFR2 Phospholipase C-mediated cascade; FGFR3 Phospholipase C-mediated cascade; FGFR4 Downstream signaling of activated FGFR1 SHC-mediated cascade:FGFR1 PI-3K cascade:FGFR1 FRS-mediated FGFR1 signaling 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 FGFR1 signaling Negative regulation of FGFR2 signaling Negative regulation of FGFR3 signaling Negative regulation of FGFR4 signaling Signaling by FGFR2 in disease Signaling by FGFR1 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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Renal hypodysplasia/aplasia 2	Pathogenic; Likely pathogenic	rs587777282, rs1585100306	RCV000114397 RCV000988038	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

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.
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL RENAL AGENESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF KIDNEYS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FGF20-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease, late-onset	Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	BEFREE	31276493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	36255742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	19621416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19204725		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Class III malocclusion	Malocclusion	BEFREE	28640125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10913340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	10913340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	19659606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	ORPHANET_DG	22698282		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	19204725		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	30241547	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Tremor	Tremor	BEFREE	27040428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	19621416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	19621416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	12360478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	34193611	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25993042, 28921304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11306498, 15592430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10913340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	19204725		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27341347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27341347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	25993042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15122513, 15967032, 17515805, 18205889, 18252210, 18568448, 19133659, 19621416, 20427658, 20471450, 22342445, 23938014, 24942208, 26070653, 26535683 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	15122513, 17515805, 18205889, 18252210, 18568448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	15122513, 18252210, 19133659, 23394771, 26535683, 33349842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28986288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal agenesis, bilateral	Renal Agenesis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
RENAL HYPODYSPLASIA/APLASIA 2	RENAL HYPODYSPLASIA/APLASIA	GENOMICS_ENGLAND_DG	22698282		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RENAL HYPODYSPLASIA/APLASIA 2	RENAL HYPODYSPLASIA/APLASIA	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sirenomelia	Sirenomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34051764	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FGF20 (fibroblast growth factor 20)