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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2253
Gene name Gene Name - the full gene name approved by the HGNC.	Fibroblast growth factor 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FGF8
Synonyms (NCBI Gene) Gene synonyms aliases	AIGF, FGF-8, HBGF-8, HH6, KAL6
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HH6
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q24.32
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cel

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852659	G>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs137852660	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs137852661	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs137852662	T>C	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs606231408	G>C	Likely-pathogenic	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs876661328	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057524676	A>T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1554834889	C>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1554834892	C>T	Likely-pathogenic	Intron variant, splice acceptor variant

Show/Hide all(13)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017212	hsa-miR-335-5p	Microarray	18185580
MIRT054861	hsa-miR-503-5p	Luciferase reporter assay, qRT-PCR, Western blot	24464787
MIRT995825	hsa-miR-2355-5p	CLIP-seq
MIRT995826	hsa-miR-3065-3p	CLIP-seq
MIRT995827	hsa-miR-361-3p	CLIP-seq
MIRT995828	hsa-miR-596	CLIP-seq
MIRT2449668	hsa-miR-2278	CLIP-seq
MIRT995825	hsa-miR-2355-5p	CLIP-seq
MIRT2449669	hsa-miR-2467-3p	CLIP-seq
MIRT995826	hsa-miR-3065-3p	CLIP-seq
MIRT2449670	hsa-miR-3158-5p	CLIP-seq
MIRT2449671	hsa-miR-3678-3p	CLIP-seq
MIRT995828	hsa-miR-596	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
NFKB1	Activation	16683270
RELA	Activation	16683270

Show/Hide all(83)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001656	Process	Metanephros development	IEP	18437684
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001759	Process	Organ induction	IEA
GO:0001823	Process	Mesonephros development	IEP	18437684
GO:0001839	Process	Neural plate morphogenesis	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IBA	21873635
GO:0001947	Process	Heart looping	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0003007	Process	Heart morphogenesis	IBA	21873635
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:0005104	Function	Fibroblast growth factor receptor binding	IBA	21873635
GO:0005105	Function	Type 1 fibroblast growth factor receptor binding	IBA	21873635
GO:0005111	Function	Type 2 fibroblast growth factor receptor binding	IBA	21873635
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007369	Process	Gastrulation	NAS	8700553
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0008078	Process	Mesodermal cell migration	IEA
GO:0008083	Function	Growth factor activity	IBA	21873635
GO:0008284	Process	Positive regulation of cell population proliferation	IBA	21873635
GO:0008406	Process	Gonad development	IMP	18596921
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA	21873635
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IGI	8663044
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	TAS	22235191
GO:0009653	Process	Anatomical structure morphogenesis	NAS	8595889
GO:0009887	Process	Animal organ morphogenesis	IBA	21873635
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA	21873635
GO:0010628	Process	Positive regulation of gene expression	IBA	21873635
GO:0010628	Process	Positive regulation of gene expression	TAS	24431302
GO:0014070	Process	Response to organic cyclic compound	IEA
GO:0021543	Process	Pallium development	IEA
GO:0021544	Process	Subpallium development	IEA
GO:0021798	Process	Forebrain dorsal/ventral pattern formation	IEA
GO:0021846	Process	Cell proliferation in forebrain	IEA
GO:0021884	Process	Forebrain neuron development	IEA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030182	Process	Neuron differentiation	IBA	21873635
GO:0030334	Process	Regulation of cell migration	IBA	21873635
GO:0030539	Process	Male genitalia development	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0030916	Process	Otic vesicle formation	IEA
GO:0030917	Process	Midbrain-hindbrain boundary development	IEA
GO:0033563	Process	Dorsal/ventral axon guidance	IEA
GO:0035050	Process	Embryonic heart tube development	IBA	21873635
GO:0035108	Process	Limb morphogenesis	IBA	21873635
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0042056	Function	Chemoattractant activity	IEA
GO:0042476	Process	Odontogenesis	IEP	17394220
GO:0042487	Process	Regulation of odontogenesis of dentin-containing tooth	IEA
GO:0042493	Process	Response to drug	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045597	Process	Positive regulation of cell differentiation	TAS	22235191
GO:0045745	Process	Positive regulation of G protein-coupled receptor signaling pathway	IEA
GO:0045840	Process	Positive regulation of mitotic nuclear division	IEA
GO:0046622	Process	Positive regulation of organ growth	IEA
GO:0048702	Process	Embryonic neurocranium morphogenesis	IEA
GO:0048853	Process	Forebrain morphogenesis	IEA
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IEA
GO:0050918	Process	Positive chemotaxis	IEA
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0051897	Process	Positive regulation of protein kinase B signaling	TAS
GO:0055026	Process	Negative regulation of cardiac muscle tissue development	IMP	20702560
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060128	Process	Corticotropin hormone secreting cell differentiation	IEA
GO:0060129	Process	Thyroid-stimulating hormone-secreting cell differentiation	IEA
GO:0060348	Process	Bone development	IMP	18596921
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060445	Process	Branching involved in salivary gland morphogenesis	IEA
GO:0060563	Process	Neuroepithelial cell differentiation	IDA	17309880
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	IDA	15193767
GO:0071542	Process	Dopaminergic neuron differentiation	TAS	24431302
GO:0090134	Process	Cell migration involved in mesendoderm migration	IEA
GO:0120223	Process	Larynx morphogenesis	IEA

MIM	HGNC	e!Ensembl
600483	3686	ENSG00000107831

Protein

UniProt ID

P55075

Protein name

Fibroblast growth factor 8 (FGF-8) (Androgen-induced growth factor) (AIGF) (Heparin-binding growth factor 8) (HBGF-8)

Protein function

Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of th

PDB

2FDB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00167	FGF	70 → 193	Fibroblast growth factor	Domain

Sequence

MGSPRSALSCLLLHLLVLCLQAQEGPGRGPALGRELASLFRAGREPQGVSQQHVREQSLV
TDQLSRRLIRTYQLYSRTSGKHVQVLANKRINAMAEDGDPFAKLIVETDTFGSRVRVRGA
ETGLYICMNKKGKLIAKSNGKGKDCVFTEIVLENNYTALQNAKYEGWYMAFTRKGRPRKG
SKTRQHQREVHFMKRLPRGHHTTEQSLRFEFLNYPPFTRSLRGSQRTWAPEPR

Sequence length

233

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 (25)

Disease term	Disease name	dbSNP ID	References
Causal
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Conotruncal anomaly face syndrome	CONOTRUNCAL ANOMALY FACE SYNDROME	rs28939675, rs1601294362	16399080
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Digeorge syndrome	DiGeorge Syndrome	rs587776825, rs1555895466	16399080
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hemangioma	Hemangioma	rs121917766
Holoprosencephaly	Holoprosencephaly	rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs397515364, rs397515365, rs2147483647, rs121909067, rs121909070, rs199476093, rs28936675, rs104894044, rs104894045, rs104894040 View all (76 more)	27363716
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism, Idiopathic hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139	23533228
Hypogonadotropic hypogonadism with or without anosmia	HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA	rs387906271, rs587777834, rs74315419, rs554675432, rs28939719, rs104894701, rs104894702, rs104894703, rs137852659, rs137852661, rs137852662, rs137852663, rs137852512, rs137852513, rs137852514 View all (110 more)	24280688, 18596921, 20463092, 23533228, 24569166, 23643382
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Lobar holoprosencephaly	Lobar Holoprosencephaly	rs121909645
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Microform holoprosencephaly	Microform holoprosencephaly	rs876661323, rs876661324, rs876661325, rs876661326, rs876661327, rs876661333
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	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	rs876661334, rs876661329, rs876661328
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)

Show/Hide Unknown Diseases (6)

Disease term	Disease name	Source
Unknown
Ambiguous genitalia	Ambiguous Genitalia	ClinVar
Asthma	Asthma	ClinVar
Mental depression	Depressive disorder	ClinVar
Ptosis	Blepharoptosis, Ptosis	ClinVar
Kallmann Syndrome	Kallmann syndrome	GenCC
Hypogonadotropic Hypogonadism	hypogonadotropic hypogonadism	GenCC

Show/Hide Text Mining Associations (44)

Disease Name	Relationship Type	References
Associations from Text Mining
Absent corpus callosum cataract immunodeficiency	Associate	21832120
Adenocarcinoma	Associate	31527546
Adrenal Insufficiency	Associate	21832120
Amyotrophic Lateral Sclerosis	Associate	29707616
Anodontia	Associate	23533228
Bone Diseases	Associate	23533228
Breast Neoplasms	Associate	11953856
Carcinogenesis	Associate	30079292
Carcinoma Ovarian Epithelial	Associate	37762545
Cleft Lip	Associate	29162626
Colorectal Neoplasms	Associate	34526059
Conotruncal cardiac defects	Associate	32664970
Craniofacial Abnormalities	Associate	21832120
Diabetes Insipidus	Associate	21832120
Eunuchoidism familial hypogonadotropic	Associate	20463092
Hearing Loss Sensorineural	Associate	20463092
Hemochromatosis	Associate	40508017
Holoprosencephaly	Associate	21832120, 21976454, 27363716
Hypogonadism	Associate	20463092, 22724017, 26199944, 40508017
Hypothalamic Diseases	Associate	21832120
Idiopathic Hypogonadotropic Hypogonadism	Associate	31748124, 36700485
Immunologic Deficiency Syndromes	Associate	20463092
Kallmann Syndrome	Associate	18985070, 20463092, 21682876, 21832120, 22035731, 22399515, 23533228
Mobius Syndrome	Associate	21832120
Neoplasm Metastasis	Associate	35813575, 37762545
Neoplasms	Inhibit	10343609
Neoplasms	Associate	10713114, 11506499, 31527546, 35813575
Odontogenic Cysts	Associate	30079292
Optic Nerve Hypoplasia	Associate	21832120
Orofacial Cleft 1	Associate	27527345
Orofaciodigital syndrome 9	Associate	23533228
Ovarian Neoplasms	Stimulate	37762545
Prostatic Hyperplasia	Associate	10343609
Prostatic Intraepithelial Neoplasia	Associate	11406643
Prostatic Neoplasms	Associate	10343609, 11406643, 11506499, 12778074
Puberty Delayed	Associate	20463092
Radiation Injuries	Associate	30276721
Rectal Neoplasms	Associate	30276721
Rhabdomyosarcoma Alveolar	Associate	35813575
Squamous Cell Carcinoma of Head and Neck	Associate	28880263
Stomach Neoplasms	Associate	31527546
Uveal Diseases	Associate	21976454
VACTERL association	Associate	34338422
VATER association	Associate	34338422

FGF8 (fibroblast growth factor 8)