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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FGF8 Gene

protein-coding GIFtS: 65
GCID: GC10M103530

fibroblast growth factor 8 (androgen-induced)

Explore 45 diseases affiliated with
FGF8 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Fibroblast Growth Factor 8 (Androgen-Induced)¹ ²		HBGF-8² ³
AIGF¹ ² ³		KAL6² ⁵
Androgen-Induced Growth Factor² ³		HH6²
Heparin-Binding Growth Factor 8² ³		Fibroblast Growth Factor 8²
FGF-8² ³

External Ids:	HGNC: 3686¹	Entrez Gene: 2253²	Ensembl: ENSG00000107831⁷	OMIM: 600483⁵	UniProtKB: P55075³

Export aliases for FGF8 gene to outside databases

Previous GC identifers: GC10M102423 GC10M102763 GC10M103661 GC10M103194 GC10M103519 GC10M097160

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FGF8:

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, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to

be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this

gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to

testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic

epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development,

organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in

four transcript variants. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FGF8_HUMAN, P55075

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 the gonadotropin-releasing hormone (GnRH) neuronal system

Gene Wiki entry for FGF8

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FGF8 gene promoter:
MyoD
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FGF8 promoter sequence

Search SABiosciences Chromatin IP Primers for FGF8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FGF8

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24 Ensembl cytogenetic band: 10q24.32 HGNC cytogenetic band: 10q25-q26

FGF8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FGF8 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M103530: view genomic region (about GC identifiers)

Start:	103,529,887 bp from pter	End:	103,535,827 bp from pter
Size:	5,941 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FGF8_HUMAN, P55075 (See protein sequence)

Recommended Name: Fibroblast growth factor 8 precursor

Size: 233 amino acids; 26525 Da

Subunit: Monomer. Homodimer. Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors

(FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors

Subcellular location: Secreted

Developmental stage: In adults expression is restricted to the gonads

1 PDB 3D structure from and Proteopedia for FGF8:

2FDB (3D)

Secondary accessions: A1A514 Q14915 Q15766

Alternative splicing: 4 isoforms: P55075-1 P55075-2 P55075-3 P55075-4

Explore the universe of human proteins at neXtProt for FGF8: NX_P55075

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P55075

FGF8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001193318.1 NP_006110.1 NP_149353.1 NP_149354.1 NP_149355.1

ENSEMBL proteins:

ENSP00000340039 ENSP00000321797 ENSP00000344306 ENSP00000321945

Reactome Protein details: P55075
Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for FGF8
	Uscn Proteins for FGF8

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IDA	8891346
GO:0005625	soluble fraction	--	--

FGF8 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for FGF8

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FGF8 for domains About GeneDecksing

2 InterPro domains/families:

IPR002348 IL1_HBGF

IPR008996 Cytokine_IL1-like

Graphical View of Domain Structure for InterPro Entry P55075

ProtoNet protein and cluster: P55075

1 Blocks protein family: IPB002348 IL1/HBGF family signature

UniProtKB/Swiss-Prot: FGF8_HUMAN, P55075

Similarity: Belongs to the heparin-binding growth factors family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: FGF8_HUMAN, P55075

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 the gonadotropin-releasing hormone (GnRH) neuronal system

Genatlas biochemistry entry for FGF8:

fibroblast growth factor 8,involved in the development of the central nervous system,face,limbs,(key indicator of

apical ectodermal ridge,AER) kidney in mouse,unlikely involved in craniosynostosis/limb defect syndromes

Summary:

During embryonic development, FGF8 as signaling molecule is secreted from the following cells: Anterior Neural Ridge Cells in Neural Plate, Apical Ectodermal Ridge Cells in Limb Ectoderm (see all 11).

It affects the following cells: Anterior Neural Ridge Cells in Neural Plate, Cardiac Neural Crest Cells in Cardiac Neural Crest (see all 32).

FGF8 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: KSR/LSB/S/F8/CHIR-induced cells, Matured neural rosettes (see all 7).

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FGF8
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate FGF8:
		hsa-miR-548d-3p hsa-miR-3120-3p hsa-miR-545
		SwitchGear 3'UTR luciferase reporter plasmid: FGF8 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGF8

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005105	type 1 fibroblast growth factor receptor binding	IDA	16384934
GO:0005111	type 2 fibroblast growth factor receptor binding	IDA	16384934
GO:0008083	growth factor activity	IEA	--

FGF8 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for FGF8: Fgf8^tm1.4Mrt Fgf8^tm1.2Mrt Fgf8^tm1Mrc Fgf8^tm2.1Jyhl
     15/21 MGI mutant phenotypes (inferred from 14 alleles) (MGI details for Fgf8) (see all 21):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	immune system	limbs/digits/tail	mortality/aging	muscle

FGF8 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/30 super-pathways (see all 30) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

FGFR2c binds to FGF

8/18 pathways (see all 18)
FGFR2c binds to FGF	1.00	FGFR4 ligand binding and activation	0.73
FGFR2c ligand binding and activation	1.00	FGFR1c ligand binding and activation	0.71
FGFR3c ligand binding and activation	0.79	Signaling by activated point mutants of FGFR1	0.71
FGFR3 ligand binding and activation	0.79	FGFR1 ligand binding and activation	0.59

Apoptotic Pathways in Synovial Fibroblasts

8/14 pathways (see all 14)
Apoptotic Pathways in Synovial Fibroblasts	1.00	ERK5 Signaling	0.61
p53 Mediated Apoptosis	0.84	eIF2 Pathway	0.60
Mitochondrial Apoptosis	0.73	Rac1 Pathway	0.58
Telomerase Components in Cell Signaling	0.72	Nuclear Receptor Activation by Vitamin-A	0.57

Signaling by FGFR

8/12 pathways (see all 12)
Signaling by FGFR	1.00	DAP12 signaling	0.83
Downstream signaling of activated FGFR	0.92	Signaling by EGFR in Cancer	0.83
Signaling by FGFR in disease	0.91	DAP12 interactions	0.76
Signaling by ERBB2	0.89	Signaling by PDGF	0.72

PIP3 activates AKT signaling

8/10 pathways (see all 10)
PI-3K cascade	1.00	PI3K/AKT activation	0.97
PIP3 activates AKT signaling	1.00	GAB1 signalosome	0.96
PI3K/AKT Signaling in Cancer	1.00	Constitutive PI3K/AKT Signaling in Cancer	0.88
PI3K events in ERBB2 signaling	1.00	Signaling by SCF-KIT	0.72

IRS-related events

IRS-related events	1.00	Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	0.90
IRS-mediated signalling	0.98	IGF1R signaling cascade	0.90
Insulin receptor signalling cascade	0.94	PI3K Cascade	0.84
IRS-related events triggered by IGF1R	0.93	Signaling by Insulin receptor	0.74

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for FGF8

Development FGF-family signaling

5/59 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FGF8 (see all 59)

	Nuclear Receptor Activation by Vitamin-A
	Paxillin Interactions
	Telomerase Components in Cell Signaling
	Mitochondrial Apoptosis
	Molecular Mechanisms of Cancer

1 GeneGo (Thomson Reuters) Pathway for FGF8

Development FGF-family signaling

3 BioSystems Pathways for FGF8

	Heart Development
	Neural Crest Differentiation
	Regulation of Actin Cytoskeleton

5/58 Reactome Pathways for FGF8 (see all 58)

	FGFR2 ligand binding and activation
	FGFR ligand binding and activation
	Signaling by EGFR in Cancer
	Signaling by FGFR2 mutants
	Downstream signal transduction

4 Kegg Pathways (Kegg details for FGF8):

	MAPK signaling pathway
	Regulation of actin cytoskeleton
	Pathways in cancer
	Melanoma

FGF8 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FGF8

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/9 Interacting proteins for FGF8 (P55075³ ENSP00000321797⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FGFR4	P22455³, ENSP00000292408⁴	I2D: score=1 STRING: ENSP00000292408
FGFR3	P22607³, ENSP00000260795⁴	I2D: score=2 STRING: ENSP00000260795
FGFR2	ENSP00000410294⁴	STRING: ENSP00000410294
FGFR1	ENSP00000380280⁴	STRING: ENSP00000380280
EGFR	ENSP00000275493⁴	STRING: ENSP00000275493

About this table

Gene Ontology (GO): 5/64 biological process terms (GO ID links to tree view) (see all 64): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000165	MAPK cascade	IEA	--
GO:0001569	patterning of blood vessels	IEA	--
GO:0001656	metanephros development	IEP	18437684
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	--
GO:0001759	organ induction	IEA	--

FGF8 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FGF8 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FGF8

1 HMDB Compound for FGF8 About this table

Compound	Synonyms	CAS #	PubMed Ids
Heparin	Arteven (see all 17)	9005-49-6	--

10/13 Novoseek chemical compound relationships for FGF8 gene (see all 13) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinoic acid	48.4	25	10872810 (4), 11144352 (2), 17600781 (2), 15069081 (1) (see all 14)
retinoid	33.3	1	11526081 (1)
tyrosine	24.8	10	16399079 (2), 11312556 (1), 17085092 (1), 15917474 (1) (see all 5)
dopamine	16.2	9	15917474 (2), 11312556 (1), 17085092 (1), 18691653 (1) (see all 7)
vitamin a	7.77	2	9004130 (1)
heparan sulfate	7.75	2	17493930 (1), 12077148 (1)
testosterone	4.55	38	16252261 (7), 12140757 (4), 7632608 (3), 9777371 (3) (see all 7)
suramin	4.2	2	7829396 (1)
forskolin	1.27	4	15193767 (2), 15245752 (1), 19627448 (1)
ibmx	0.184	1	15725745 (1)

Search CenterWatch for drugs/clinical trials and news about FGF8

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FGF8 gene (5 alternative transcripts):

NM_001206389.1 NM_006119.4 NM_033163.3 NM_033164.3 NM_033165.3

Unigene Cluster for FGF8:

Fibroblast growth factor 8 (androgen-induced)

Hs.57710 [show with all ESTs]

Unigene Representative Sequence: NM_033163

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000344255 ENST00000485728 ENST00000320185(uc001ktp.2 uc001ktq.2)

ENST00000346714(uc021pxg.1) ENST00000469792 ENST00000347978(uc001ktr.2 uc001kts.2 uc009xwr.2)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FGF8
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		hsa-miR-548d-3p hsa-miR-3120-3p hsa-miR-545
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		GenScript: all cDNA clones in your preferred vector (see all 5): FGF8 (NM_033164)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FGF8

Additional cDNA sequence:

AB014615.1 BC069106.1 BC128235.1 BC128236.1 U36223.1 U46211.1 U46212.1 U46213.1

U46214.1

4 DOTS entries:

DT.456212 DT.92415929 DT.100020014 DT.92415927

14 AceView cDNA sequences:

BX281460 BC069106 NM_033163 U46213 NM_033164 NM_006119 U46212 NM_033165

U46211 U56978 AB014615 U36223 BG115475 U46214

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for FGF8 About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5	^	6a	·	6b
SP1:
SP2:							-
SP3:			-		-
SP4:					-		-
SP5:					-

ECgene alternative splicing isoforms for FGF8

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FGF8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGCGGCTGC

About this image

FGF8 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/34 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 34)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Myocardium

Apical Ectodermal Ridge Cells

Dermis, Ectoderm

Neural Ectoderm

Primordial Germ Cell Precursors

Germ Cells

Heart

Cardiac Crescent

Cardiac Crescent Cells

Myocardium

Heart

Primitive Heart Tube

Primitive Heart Tube Cells

Myocardium

Epiblast

Epiblast Cells

Early Embryo

Epiblast

Intraembryonic Epiblast Cells

Early Embryo

Endoderm

Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

Definitive endoderm-like cells (Generation and expan...)

Endoderm-like cells (Functional hepatocyt...)

N2/LSB/S/F8-induced cells (Generation of midbra...)

Definitive endoderm-like cells (A scalable, suspensi...)

See FGF8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FGF8

SOURCE GeneReport for Unigene cluster: Hs.57710

SABiosciences Custom PCR Arrays for FGF8

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGF8

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for FGF8 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	FGF8¹	fibroblast growth factor 8 (androgen-induced)	84.25(n) 85.93(a)		396313 NM_001012767.1 NP_001012785.1
lizard (Anolis carolinensis)	Reptilia	FGF8⁶	--	82(a)	1 ↔ 1	GL343239.1(1254865-1277501)
African clawed frog (Xenopus laevis)	Amphibia	Xl.20011²	X.laevis mRNA for fibroblast growth factor 8, partial	79.79(n)		AF461177.1
zebrafish (Danio rerio)	Actinopterygii	fgf8²	fibroblast growth factor 8	80.08(n)		30538 AF051365.1

ENSEMBL Gene Tree for FGF8 (if available)
TreeFam Gene Tree for FGF8 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FGF8 gene

FGF17² FGF1² FGF18² FGF2²

8 SIMAP similar genes for FGF8 using alignment to 2 protein entries: FGF8_HUMAN (see all proteins):

FGF17 FGF18 FGF7 KGFLP2 PRED3 KGFLP1

FGF2 FGF11

FGF8 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137852660^1,2	C,	pathogenic	103534966(-)	`AGGCCC/TGGGCA`	7	P L	mis¹ int¹		0	--	--	--	--
rs147355029^1,2		--	103529560(+)	`CCCCGA/GCAGGA`	5	--	ds500¹		0	--	--	--	--
rs139499064^1,2		--	103529809(+)	`ATCCCA/TGTCTA`	5	--	ds500¹		0	--	--	--	--
rs77611428^1,2		--	103529956(+)	`ACAACC/GGGAAC`	5	--	ut3¹		0	--	--	--	--
rs3218239^1,2	C,F,	--	103529962(-)	`CCCTGG/CGTTCC`	5	--	ut3¹ ese³		2		NS NA	300
rs150912902^1,2	C,	--	103530049(+)	`GCCTCG/TCTGCG`	5	--	ut3¹		0	--	--	--	--
rs116363564^1,2	C,F,	--	103530179(+)	`TGCTCG/AGTGGT`	10	/T	syn¹		1		NA	3518
rs147342890^1,2	C,F	--	103530239(+)	`TGCCGC/TGTCTT`	10	T	syn¹		2		NA EU	5077
rs201979353^1,2		--	103530295(+)	`GCCCTC/TGTACT`	10	K E	mis¹		0	--	--	--	--
rs139565972^1,2	C	--	103530352(+)	`GAAGAC/TGCAGT`	10	I V	mis¹		1		NA	4516

HapMap Linkage Disequilibrium report for FGF8 (103529887 - 103535827 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FGF8: --
Human Gene Mutation Database (HGMD): FGF8

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FGF8

DNA2.0 Custom Variant and Variant Library Synthesis for FGF8

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FGF8 for disorders           About GeneDecksing

OMIM gene information: 600483
OMIM disorders: 612702
UniProtKB/Swiss-Prot: FGF8_HUMAN, P55075

Defects in FGF8 are the cause of hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]. A

disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low

levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In

some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural

hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts.

Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic

migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic

hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell,

it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH)

20/45 diseases for FGF8 (see all 45): About MalaCards

craniofacial anomalies kallmann syndrome 6 kallmann syndrome pfeiffer syndrome

testicular germ cell tumor germ cell tumor tooth agenesis holoprosencephaly

hypospadias craniosynostosis anosmia renal agenesis

ectrodactyly chronic lymphocytic leukemia klinefelter's syndrome teratocarcinoma

lymphocytic leukemia hypogonadotropism parkinson's disease syndactyly

5 diseases from the University of Copenhagen DISEASES database for FGF8:

Klinefelter's syndrome Hypogonadism Syndactyly Holoprosencephaly

Parkinson's disease

10/24 Novoseek disease relationships for FGF8 gene (see all 24) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
caronte	82.7	1	10882519 (1)
kallmann syndrome	57.8	1	20363464 (1), 18987492 (1)
pfeiffer syndrome	55.8	2	9332670 (1)
prostate cancer	41.7	72	11406643 (8), 18386787 (7), 10348350 (4), 10629559 (4) (see all 24)
teratocarcinoma	39.3	3	11764380 (1), 9366493 (1), 12820388 (1)
mammary tumor	36.5	13	9784427 (2), 16252261 (2), 8738604 (1), 15897591 (1) (see all 6)
parkinson disease	34.6	3	17640353 (1), 11532426 (1)
holoprosencephaly	34.4	1	18173302 (1)
craniosynostosis	32	5	9332670 (2), 8595889 (1)
prostatic intraepithelial neoplasia	28.5	1	11406643 (1)

GeneTests: FGF8

Kallmann Syndrome

Human Genome Epidemiology (HuGE) Navigator: FGF8 (4 documents)

Export disorders for FGF8 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for FGF8 gene, integrated from 9 sources (see all 297):
(articles sorted by number of sources associating them with FGF8)

Utopia: connect your pdf to the dynamic
world of online information

The human FGF-8 gene localizes on chromosome 10q24 and is subjected to induction by androgen in breast cancer cells. (PubMed id 8700553)^{1, 2, 9} Payson R.A.... Chiu I.-M. (1996)
Molecular cloning and characterization of human FGF8 alternative messenger RNA forms. (PubMed id 8891346)^{1, 2, 9} Ghosh A.K.... Roy-Burman P. (1996)
Assignment of FGF8 to human chromosome 10q25-q26: mutations in FGF8 may be responsible for some types of acrocephalosyndactyly linked to this region. (PubMed id 8595889)^{1, 3, 9} White R.A....MacArthur C.A. (1995)
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. (PubMed id 18596921)^{1, 2, 9} Falardeau J.... Pitteloud N. (2008)
Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain. (PubMed id 16384934)^{1, 2, 9} Olsen S.K.... Mohammadi M. (2006)
Human androgen-induced growth factor in prostate and breast cancer cells: its molecular cloning and growth properties. (PubMed id 7737407)^{1, 2, 9} Tanaka A.... Yoshida H. (1995)
Structure and sequence of human FGF8. (PubMed id 8661131)^{1, 2, 9} Gemel J.... Macarthur C.A. (1996)
Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. (PubMed id 16597617)^{1, 2} Zhang X....Ornitz D.M. (2006)
A novel isoform of human fibroblast growth factor 8 is induced by androgens and associated with progression of esophageal carcinoma. (PubMed id 11341643)^{1, 2} Tanaka S.... Sugimachi K. (2001)
Receptor specificity of the fibroblast growth factor family. (PubMed id 8663044)^{1, 2} Ornitz D.M....Goldfarb M. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2253	HGNC: 3686	AceView: FGF8	Ensembl:ENSG00000107831	euGenes: HUgn2253
ECgene: FGF8	Kegg: 2253	H-InvDB: FGF8

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FGF8	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for FGF8	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/fgf8/

Intellectual Property for FGF8 gene
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Patent Information for FGF8 gene:
Search GeneIP for patents involving FGF8

GeneCards and IP:
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fibroblast growth factor 8 (androgen-induced)

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FGF8 Gene

fibroblast growth factor 8 (androgen-induced)

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