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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FGF8 Gene

protein-coding   GIFtS: 68
GCID: GC10M103530

Fibroblast Growth Factor 8 (Androgen-Induced)

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Fibroblast Growth Factor 8 (Androgen-Induced)1 2     HBGF-82 3
Androgen-Induced Growth Factor2 3     KAL62 5
Heparin-Binding Growth Factor 82 3     HH62
AIGF2 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 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, 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)

GeneCards Summary for FGF8 Gene: 
FGF8 (fibroblast growth factor 8 (androgen-induced)) is a protein-coding gene. Diseases associated with FGF8 include kallmann syndrome 6, and prostatic hypertrophy, and among its related super-pathways are Regulation of actin cytoskeleton and Development FGF-family signaling. GO annotations related to this gene include growth factor activity and type 2 fibroblast growth factor receptor binding. An important paralog of this gene is FGF17.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FGF8 gene promoter:
         MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFGF8 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:
103,540,126 bp from pter
Size:
10,240 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for FGF8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55075

  • FGF8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FGF8 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001193318.1  NP_006110.1  NP_149353.1  NP_149354.1  NP_149355.1  

    ENSEMBL proteins: 
     ENSP00000473299   ENSP00000340039   ENSP00000321797   ENSP00000344306   ENSP00000321945  
    Reactome Protein details: P55075
    Human Recombinant Protein Products for FGF8: 
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    Cloud-Clone Corp. Proteins for FGF8 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA8891346

    FGF8 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR002348 IL1_HBGF
     IPR008996 Cytokine_IL1-like

    Graphical View of Domain Structure for InterPro Entry P55075

    ProtoNet protein and cluster: P55075

    1 Blocks protein domain: IPB002348 IL1/HBGF family signature

    UniProtKB/Swiss-Prot: FGF8_HUMAN, P55075
    Similarity: Belongs to the heparin-binding growth factors family


    FGF8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 12).

    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: Dopaminergic neuron precursor cells from , Sonic hedgehog-induced cells from (see all).

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005104fibroblast growth factor receptor binding IEA--
    GO:0005105type 1 fibroblast growth factor receptor binding IDA16384934
    GO:0005111type 2 fibroblast growth factor receptor binding IDA16384934
    GO:0008083growth factor activity IEA--
         
    FGF8 for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-outs for FGF8: Fgf8tm1.4Mrt Fgf8tm1.2Mrt Fgf8tm1Mrc Fgf8tm2.1Jyhl

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FGF8 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FGF8 About   (see all 33)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57
    2Development FGF-family signaling
    Development FGF-family signaling0.63
    FGF Pathway0.38
    3FGFR2c ligand binding and activation
    FGFR ligand binding and activation0.79
    FGFR1c ligand binding and activation0.79
    SHC-mediated cascade0.79
    FGFR2 ligand binding and activation0.76
    FGFR2c ligand binding and activation0.79
    Signaling by FGFR2 mutants0.76
    FGFR1 ligand binding and activation0.79
    Activated point mutants of FGFR20.76
    4Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    5Signaling by FGFR
    Downstream signaling of activated FGFR0.92
    Downstream signal transduction0.90
    Signaling by FGFR0.92
    Signaling by PDGF0.85
    Signaling by FGFR in disease0.91
    Signaling by EGFR0.84
    DAP12 signaling0.91
    Signaling by EGFR in Cancer0.83

    Pathways by source                                                                                                                                                                 See SuperPaths
    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


    5/59        Reactome Pathways for FGF8 (see all 59)
        FGFR2 ligand binding and activation
    FGFR ligand binding and activation
    Signaling by EGFR in Cancer
    Signaling by FGFR2 mutants
    Downstream signal transduction


    5/6         Kegg Pathways  (Kegg details for FGF8) (see all 6):
        MAPK signaling pathway
    PI3K-Akt signaling pathway
    Regulation of actin cytoskeleton
    Pathways in cancer
    Proteoglycans in cancer


    FGF8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM 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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FGFR4P224553, ENSP000002924084I2D: score=1 STRING: ENSP00000292408
    FGFR3P226073, ENSP000002607954I2D: score=2 STRING: ENSP00000260795
    FGFR2ENSP000004102944STRING: ENSP00000410294
    FGFR1ENSP000003802804STRING: ENSP00000380280
    EGFRENSP000002754934STRING: ENSP00000275493
    About this table

    Gene Ontology (GO): 5/69 biological process terms (GO ID links to tree view) (see all 69):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade IEA--
    GO:0001569patterning of blood vessels IEA--
    GO:0001656metanephros development IEP18437684
    GO:0001658branching involved in ureteric bud morphogenesis IEA--
    GO:0001759organ induction IEA--

    FGF8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    CompoundSynonyms CAS #PubMed Ids
    HeparinArteven (see all 17)9005-49-6--

    10/13 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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:
    ENST00000469792 ENST00000344255 ENST00000485728 ENST00000320185(uc001ktp.2 uc001ktq.2)
    ENST00000346714(uc021pxg.1) ENST00000347978(uc001ktr.2 uc001kts.2 uc009xwr.2)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA 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 NM_033165 U46213 U46211 NM_006119 U46212 NM_033163 BC069106 
    NM_033164 AB014615 U56978 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)      FGF8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGCGGCTGC
    FGF8 Expression
    About this image


    FGF8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Meso-diencephalic Dopaminergic Precursor Cells Mesencephalic Ventricular Zone
             Thalamus
             N2/LSB/S/F8-induced cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 7 entries
             Isthmus Cells Neural Plate
             Telencephalon
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Apical Ectodermal Ridge Cells Limb Ectoderm
             Limb Bud
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Distal Renal Vesicle Cells Renal Vesicle
             Metanephros
     
     Heart (Cardiovascular System)    fully expand to see all 6 entries
             Heart Tube Cells Heart Tube

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

    SOURCE GeneReport for Unigene cluster: Hs.57710
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    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 animals.

    Orthologs for FGF8 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fgf81 , 5 fibroblast growth factor 81, 5 94.81(n)1
    98.36(a)1
      19 (38.75 cM)5
    141791  NM_001166361.11  NP_001159833.11 
     457367985 
    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
    Uncharacterized protein
    82(a)
    1 ↔ 1
    GL343239.1(1252702-1278083)
    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 
    worm
    (Caenorhabditis elegans)
    Secernentea let-7566
    Protein let-756
    11(a)
    1 → many
    III(6407129-6410018)


    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  FGF182  
    8 SIMAP similar genes for FGF8 using alignment to 3 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, 4UniProtKB, 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

    10/184 SNPs in FGF8 are shown (see all 184)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0579674
    Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)4--see VAR_0579672 T M mis40--------
    VAR_0579644
    Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)4--see VAR_0579642 F L mis40--------
    VAR_0579624
    Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)4--see VAR_0579622 H N mis40--------
    VAR_0579654
    Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)4--see VAR_0579652 K E mis40--------
    VAR_0579664
    Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)4--see VAR_0579662 R G mis40--------
    rs1378526601,2,4
    CHypogonadotropic hypogonadism 6 with or without anosmia (HH6)4 pathogenic1103534966(-) AGGCCC/TGGGCA 7 P L mis1 int10--------
    rs1378526641,2
    Cunknown1103530135(-) CTTCAC/TGCGCA 10 T M mis10--------
    rs3747144101,2
    C--103529440(+) GGGGAA/TGGTTG 5 -- ds50010--------
    rs1473550291,2
    --103529560(+) CCCCGA/GCAGGA 5 -- ds50010--------
    rs1394990641,2
    --103529809(+) ATCCCA/TGTCTA 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for FGF8 (103529887 - 103540126 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FGF8:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv171n67CNV Gain20364138


    Human Gene Mutation Database (HGMD): FGF8
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600483   
    OMIM disorders: 612702  
    UniProtKB/Swiss-Prot: FGF8_HUMAN, P55075
  • 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). Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/43 diseases for FGF8 (see all 43):    About MalaCards
    kallmann syndrome 6    prostatic hypertrophy    pfeiffer syndrome    kallmann syndrome
    teratocarcinoma    split foot    septo-optic dysplasia    hypospadias
    pharyngitis    holoprosencephaly    tooth agenesis    craniosynostosis
    hypogonadotropism    split hand    renal agenesis    klinefelter's syndrome
    syndactyly    prostate cancer, progression of    hypogonadism    polydactyly

    6 diseases from the University of Copenhagen DISEASES database for FGF8:
    Klinefelter's syndrome     Hypogonadism     Syndactyly     Holoprosencephaly
    Parkinson's disease     Polydactyly

    FGF8 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/24 Novoseek inferred 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
    GeneReviews: FGF8
    Genetic Association Database (GAD): FGF8
    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 299):
    (articles sorted by number of sources associating them with FGF8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Molecular cloning and characterization of human FGF8 alternative messenger RNA forms. (PubMed id 8891346)1, 2, 9 Ghosh A.K.... Roy-Burman P. (1996)
    3. FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias. (PubMed id 17264867)1, 4, 9 Beleza-Meireles A....Nordenskjold A. (2007)
    4. 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)
    5. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. (PubMed id 18596921)1, 2, 9 Falardeau J.... Pitteloud N. (2008)
    6. 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)
    7. 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)
    8. Structure and sequence of human FGF8. (PubMed id 8661131)1, 2, 9 Gemel J.... Macarthur C.A. (1996)
    9. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    10. Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. (PubMed id 16597617)1, 2 Zhang X....Ornitz D.M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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
    NameDescription
    PharmGKB entry for FGF8 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FGF8 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fgf8/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FGF8 gene:
    Search GeneIP for patents involving FGF8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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