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	8822
Gene name	Fibroblast growth factor 17
Gene symbol	FGF17
Synonyms (NCBI Gene)	FGF-13FGF-17HH20
Chromosome	8
Chromosome location	8p21.3
Summary	This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morp

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SNP ID	Visualize variation	Clinical significance	Consequence
rs398123024	T>C	Risk-factor	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018870	hsa-miR-335-5p	Microarray	18185580
MIRT995595	hsa-miR-1202	CLIP-seq
MIRT995596	hsa-miR-1227	CLIP-seq
MIRT995597	hsa-miR-1266	CLIP-seq
MIRT995598	hsa-miR-3194-5p	CLIP-seq
MIRT995599	hsa-miR-331-3p	CLIP-seq
MIRT995600	hsa-miR-3972	CLIP-seq
MIRT995601	hsa-miR-4292	CLIP-seq
MIRT995602	hsa-miR-4469	CLIP-seq
MIRT995603	hsa-miR-4518	CLIP-seq
MIRT995604	hsa-miR-4632	CLIP-seq
MIRT995605	hsa-miR-4655-3p	CLIP-seq
MIRT995606	hsa-miR-486-3p	CLIP-seq
MIRT1995230	hsa-miR-149	CLIP-seq
MIRT1995231	hsa-miR-3064-5p	CLIP-seq
MIRT1995232	hsa-miR-3126-3p	CLIP-seq
MIRT1995233	hsa-miR-3150a-3p	CLIP-seq
MIRT1995234	hsa-miR-3175	CLIP-seq
MIRT995599	hsa-miR-331-3p	CLIP-seq
MIRT1995235	hsa-miR-3936	CLIP-seq
MIRT995601	hsa-miR-4292	CLIP-seq
MIRT995602	hsa-miR-4469	CLIP-seq
MIRT1995236	hsa-miR-4651	CLIP-seq
MIRT995605	hsa-miR-4655-3p	CLIP-seq
MIRT1995237	hsa-miR-4794	CLIP-seq
MIRT995606	hsa-miR-486-3p	CLIP-seq
MIRT1995238	hsa-miR-491-5p	CLIP-seq
MIRT1995239	hsa-miR-542-5p	CLIP-seq
MIRT1995240	hsa-miR-608	CLIP-seq
MIRT1995241	hsa-miR-939	CLIP-seq
MIRT995602	hsa-miR-4469	CLIP-seq
MIRT995605	hsa-miR-4655-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005105	Function	Type 1 fibroblast growth factor receptor binding	IBA
GO:0005105	Function	Type 1 fibroblast growth factor receptor binding	IDA	16384934
GO:0005105	Function	Type 1 fibroblast growth factor receptor binding	IEA
GO:0005111	Function	Type 2 fibroblast growth factor receptor binding	IBA
GO:0005111	Function	Type 2 fibroblast growth factor receptor binding	IDA	16384934
GO:0005111	Function	Type 2 fibroblast growth factor receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	12975309
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	TAS	9514906
GO:0005737	Component	Cytoplasm	IBA
GO:0007165	Process	Signal transduction	TAS	9514906
GO:0007267	Process	Cell-cell signaling	TAS	9514906
GO:0007399	Process	Nervous system development	TAS	9514906
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	TAS	9514906
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0022008	Process	Neurogenesis	IBA
GO:0030334	Process	Regulation of cell migration	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IBA

MIM	HGNC	e!Ensembl
603725	3673	ENSG00000158815

O60258

Protein name

Fibroblast growth factor 17 (FGF-17)

Protein function

Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00167	FGF	53 → 175	Fibroblast growth factor	Domain

Tissue specificity

TISSUE SPECIFICITY: Preferentially expressed in the embryonic brain.

Sequence

MGAARLLPNLTLCLQLLILCCQTQGENHPSPNFNQYVRDQGAMTDQLSRRQIREYQLYSR
TSGKHVQVTGRRISATAEDGNKFAKLIVETDTFGSRVRIKGAESEKYICMNKRGKLIGKP
SGKSKDCVFTEIVLENNYTAFQNARHEGWFMAFTRQGRPRQASRSRQNQREAHFIKRLYQ
GQLPFPNHAEKQKQFEFVGSAPTRRTKRTRRPQPLT

Sequence length

216

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 FGFRL1 modulation of FGFR1 signaling RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Signaling by FGFR3 point mutants in cancer

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypogonadotropic hypogonadism 20 without anosmia	Pathogenic	rs398123025	RCV000043599

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs3176295	RCV005924997
Cervical cancer	Benign	rs3176295	RCV005924999
Colon adenocarcinoma	Benign	rs3176295	RCV005924996
FGF17-related disorder	Benign; Uncertain significance	rs200194065, rs201297515	RCV004753509 RCV003402242
Gastric cancer	Likely benign	rs3176271	RCV005915098
Hypogonadotropic hypogonadism 20 with or without anosmia	risk factor; Uncertain significance	rs398123024, rs398123026	RCV000043598 RCV000043600
Malignant tumor of esophagus	Benign	rs3176295	RCV005924998
Melanoma	Benign	rs3176295	RCV005925002
Ovarian serous cystadenocarcinoma	Benign	rs3176295	RCV005925000
Thymoma	Benign; Likely benign	rs3176295, rs199703542	RCV005925001 RCV005907697
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs3176271, rs3176295	RCV005915099 RCV005925003

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Pancreatic Ductal	Associate	34061869
Ectrodactyly	Associate	31748124
Hypogonadism	Associate	37108593, 38096238
Idiopathic Hypogonadotropic Hypogonadism	Associate	31748124
Kallmann Syndrome	Associate	37108593
Tarlov Cysts	Associate	37830980

FGF17 (fibroblast growth factor 17)