FGF17 (fibroblast growth factor 17)

Gene

• Entrez ID: 8822
• Gene name: Fibroblast growth factor 17
• Gene symbol: FGF17
• Synonyms: FGF-13, FGF-17, HH20
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0001934	Process	Positive regulation of protein phosphorylation	IBA	21873635
GO:0005104	Function	Fibroblast growth factor receptor binding	IBA	21873635
GO:0005105	Function	Type 1 fibroblast growth factor receptor binding	IBA	21873635
GO:0005105	Function	Type 1 fibroblast growth factor receptor binding	IDA	16384934
GO:0005111	Function	Type 2 fibroblast growth factor receptor binding	IBA	21873635
GO:0005111	Function	Type 2 fibroblast growth factor receptor binding	IDA	16384934
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	NAS	12975309
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
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	21873635
GO:0008284	Process	Positive regulation of cell population proliferation	IBA	21873635
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA	21873635
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	TAS
GO:0009887	Process	Animal organ morphogenesis	IBA	21873635
GO:0010628	Process	Positive regulation of gene expression	IBA	21873635
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030334	Process	Regulation of cell migration	IBA	21873635
GO:0051897	Process	Positive regulation of protein kinase B signaling	TAS

Other IDs

• MIM: 603725
• HGNC: 3673
• e!Ensembl: ENSG00000158815

Protein

• UniProt ID: 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

• Sequence:

  MGAARLLPNLTLCLQLLILCCQTQGENHPSPNFNQYVRDQGAMTDQLSRRQIREYQLYSR
  TSGKHVQVTGRRISATAEDGNKFAKLIVETDTFGSRVRIKGAESEKYICMNKRGKLIGKP
  SGKSKDCVFTEIVLENNYTAFQNARHEGWFMAFTRQGRPRQASRSRQNQREAHFIKRLYQ
  GQLPFPNHAEKQKQFEFVGSAPTRRTKRTRRPQPLT

• Sequence length: 216

Pathways

KEGG:

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

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism, Idiopathic hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Hypogonadotropic hypogonadism with or without anosmia	HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA	rs387906271, rs121918340, rs606231136, rs587777834, rs74315419, rs554675432, rs28939719, rs104894701, rs104894702, rs104894703, rs137852659, rs137852661, rs137852662, rs137852663, rs137852512, rs137852513, rs137852514, rs2146817110, rs137852515, rs2146819139, rs2146919315, rs137852516, rs387906427, rs121918124, rs121918125, rs587777758, rs104893836, rs104893837, rs28933074, rs104893838, rs104893839, rs104893840, rs104893841, rs104893842, rs104893843, rs104893844, rs797044452, rs74452732, rs104893847, rs5030646, rs5030776, rs121909666, rs121909627, rs1586111679, rs1563433902, rs121909628, rs121909629, rs1586287678, rs121909630, rs121909635, rs267606805, rs121909636, rs121909638, rs121909639, rs587776835, rs121909640, rs121909642, rs121909643, rs121909645, rs281865427, rs587777835, rs761325768, rs2104908342, rs886037634, rs397515446, rs398123024, rs398123025, rs398124651, rs398124652, rs398124653, rs398124654, rs369641068, rs145221454, rs587776980, rs587776981, rs886037637, rs398122393, rs144292455, rs397515483, rs397518425, rs398124321, rs515726220, rs515726223, rs515726224, rs515726225, rs10835638, rs606231406, rs369176613, rs606231409, rs587777739, rs587777740, rs587777864, rs587783457, rs727505375, rs727505367, rs727505377, rs727505376, rs727505370, rs727505371, rs727505373, rs727505372, rs727505374, rs764659822, rs5030777, rs794727423, rs876661334, rs876661330, rs876661329, rs886039395, rs886039881, rs886037916, rs886040962, rs1057519418, rs374623109, rs1057520209, rs1057520210, rs1060499663, rs773138384, rs1131692039, rs932845258, rs1554570706, rs1554834303, rs1555904591, rs747010865, rs1554603970, rs1555893221, rs1554564353, rs1554594114, rs1602050730, rs1584891562, rs1601946139, rs1586083500, rs1586375906, rs1601965037, rs1601988004, rs1586462917, rs760022956, rs1727077385, rs1726901153, rs1726871489	23643382
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Mirror movements	Mirror movements disorder	rs199925463, rs34091239, rs606231254, rs1555429623, rs1567750186, rs1567749982, rs1567750187
Non-obstructive azoospermia	Non-obstructive azoospermia	rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098

Unknown
Disease name	Disease term	dbSNP ID	References
Anxiety disorder	Anxiety
Bipolar disorder	Bipolar Disorder		19204725
Congenital camptodactyly	Congenital Camptodactyly
Breast hypoplasia	Congenital hypoplasia of breast
Hypoplasia of the ovary	Congenital hypoplasia of ovary
Congenital sensorineural hearing loss	Congenital sensorineural hearing loss
Dysarthria	Dysarthria
Erectile dysfunction	Erectile dysfunction
Female hypogonadism syndrome	Female hypogonadism syndrome
Gynecomastia	Gynecomastia
Hypogonadism	Hypogonadism
Hypopituitarism	Anterior hypopituitarism
Kallmann syndrome	Kallmann Syndrome		23643382
Mental depression	Mental Depression, Depressive disorder	rs587778876, rs587778877	19204725
Normosmic congenital hypogonadotropic hypogonadism	Normosmic congenital hypogonadotropic hypogonadism
Osteopenia	Osteopenia
Paraplegia	Paraplegia
Penis agenesis	Penis agenesis
Physiologic amenorrhea	Primary physiologic amenorrhea
Ptosis	Blepharoptosis, Ptosis	rs139920573
Renal agenesis	Congenital absence of kidneys syndrome
Secondary physiologic amenorrhea	Secondary physiologic amenorrhea
Testicular hypogonadism	Testicular hypogonadism