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Aliases for FGF8 Gene

Aliases for FGF8 Gene

  • Fibroblast Growth Factor 8 2 3 5
  • Androgen-Induced Growth Factor 2 3 4
  • Fibroblast Growth Factor 8 (Androgen-Induced) 2 3
  • Heparin-Binding Growth Factor 8 3 4
  • HBGF-8 3 4
  • FGF-8 3 4
  • AIGF 3 4
  • KAL6 3
  • HH6 3

External Ids for FGF8 Gene

Previous GeneCards Identifiers for FGF8 Gene

  • GC10M102423
  • GC10M102763
  • GC10M103661
  • GC10M103194
  • GC10M103519
  • GC10M097160
  • GC10M103530

Summaries for FGF8 Gene

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) is a Protein Coding gene. Diseases associated with FGF8 include Hypogonadotropic Hypogonadism 6 With Or Without Anosmia and Kallmann Syndrome. Among its related pathways are GPCR Pathway and RET signaling. GO annotations related to this gene include growth factor activity and fibroblast growth factor receptor binding. An important paralog of this gene is FGF17.

UniProtKB/Swiss-Prot for FGF8 Gene

  • 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 (PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111).

Gene Wiki entry for FGF8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGF8 Gene

Genomics for FGF8 Gene

Regulatory Elements for FGF8 Gene

Enhancers for FGF8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G102009 1.4 Ensembl ENCODE dbSUPER 9.3 -229.6 -229632 0.4 ELF3 TBL1XR1 WRNIP1 ARID4B ZNF2 ZSCAN9 RAD21 RFX5 SLC30A9 SCRT2 KCNIP2 C10orf76 HPS6 MGEA5 KCNIP2-AS1 FGF8 POLL DPCD ENSG00000222430
GH10G101858 1 ENCODE 10.4 -78.9 -78933 1.9 ATF1 FOXA2 ARNT TCF12 ZNF766 GATA2 ELK1 ZNF263 NCOA1 JUNB FGF8 PPRC1 GC10M101802 ENSG00000274742
GH10G101725 0.8 ENCODE 11.3 +54.2 54232 0.6 HDGF CTCF KLF17 ZNF384 ZNF48 ZNF2 RAD21 TEAD3 ZNF121 ZBTB48 FGF8 FBXW4 POLL DPCD HPS6 ENSG00000224817 LOC105378458
GH10G101616 0.8 ENCODE 11 +162.9 162862 1.2 BCOR HDGF CTCF ESRRA MXI1 WRNIP1 SIN3A ZMYM3 MAX ZFHX2 DPCD POLL FGF8 BTRC RNU6-1165P MIR3158-2
GH10G101642 0.6 ENCODE 10.4 +136.3 136292 2.8 PAF1 HDAC2 BCL11A MAX REST CHD7 RNU6-1165P POLL DPCD FGF8 RNU2-43P HPS6 FBXW4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FGF8 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the FGF8 gene promoter:

Genomic Location for FGF8 Gene

Chromosome:
10
Start:
101,770,130 bp from pter
End:
101,780,369 bp from pter
Size:
10,240 bases
Orientation:
Minus strand

Genomic View for FGF8 Gene

Genes around FGF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGF8 Gene

Proteins for FGF8 Gene

  • Protein details for FGF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55075-FGF8_HUMAN
    Recommended name:
    Fibroblast growth factor 8
    Protein Accession:
    P55075
    Secondary Accessions:
    • A1A514
    • Q14915
    • Q15766

    Protein attributes for FGF8 Gene

    Size:
    233 amino acids
    Molecular mass:
    26525 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for FGF8 Gene

    Alternative splice isoforms for FGF8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FGF8 Gene

Post-translational modifications for FGF8 Gene

  • Glycosylation at Asn155
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for FGF8

No data available for DME Specific Peptides for FGF8 Gene

Domains & Families for FGF8 Gene

Gene Families for FGF8 Gene

Protein Domains for FGF8 Gene

Suggested Antigen Peptide Sequences for FGF8 Gene

Graphical View of Domain Structure for InterPro Entry

P55075

UniProtKB/Swiss-Prot:

FGF8_HUMAN :
  • Belongs to the heparin-binding growth factors family.
Family:
  • Belongs to the heparin-binding growth factors family.
genes like me logo Genes that share domains with FGF8: view

Function for FGF8 Gene

Molecular function for FGF8 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 (PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111).

LifeMap Function Summary for FGF8 Gene

During embryonic development, FGF8 as signaling molecule is secreted from the following cells
It affects the following cells:
FGF8 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Gene Ontology (GO) - Molecular Function for FGF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity TAS --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005104 fibroblast growth factor receptor binding IEA --
GO:0008083 growth factor activity IEA --
GO:0016303 1-phosphatidylinositol-3-kinase activity TAS --
genes like me logo Genes that share ontologies with FGF8: view
genes like me logo Genes that share phenotypes with FGF8: view

Human Phenotype Ontology for FGF8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGF8 Gene

MGI Knock Outs for FGF8:

Animal Model Products

miRNA for FGF8 Gene

miRTarBase miRNAs that target FGF8

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGF8 Gene

Localization for FGF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGF8 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGF8 gene
Compartment Confidence
extracellular 5
plasma membrane 2
nucleus 2
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FGF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005622 intracellular IEA --
GO:0009897 external side of plasma membrane IEA --
genes like me logo Genes that share ontologies with FGF8: view

Pathways & Interactions for FGF8 Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling of activated FGFR2
3 Apoptotic Pathways in Synovial Fibroblasts
4 Negative regulation of FGFR1 signaling
5 GPCR Pathway
genes like me logo Genes that share pathways with FGF8: view

SIGNOR curated interactions for FGF8 Gene

Activates:

Gene Ontology (GO) - Biological Process for FGF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0001656 metanephros development IEP 18437684
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001759 organ induction IEA --
genes like me logo Genes that share ontologies with FGF8: view

Drugs & Compounds for FGF8 Gene

(8) Drugs for FGF8 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist 848,265

(5) Additional Compounds for FGF8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FGF8: view

Transcripts for FGF8 Gene

mRNA/cDNA for FGF8 Gene

Unigene Clusters for FGF8 Gene

Fibroblast growth factor 8 (androgen-induced):
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGF8 Gene

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

Relevant External Links for FGF8 Gene

GeneLoc Exon Structure for
FGF8
ECgene alternative splicing isoforms for
FGF8

Expression for FGF8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FGF8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGF8 Gene

This gene is overexpressed in Brain - Cortex (x4.6), Testis (x4.2), and Brain - Hippocampus (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FGF8 Gene



NURSA nuclear receptor signaling pathways regulating expression of FGF8 Gene:

FGF8

SOURCE GeneReport for Unigene cluster for FGF8 Gene:

Hs.57710

Evidence on tissue expression from TISSUES for FGF8 Gene

  • Nervous system(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FGF8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FGF8: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for FGF8 Gene

Orthologs for FGF8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FGF8 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fgf8 34
  • 95.26 (n)
mouse
(Mus musculus)
Mammalia Fgf8 34 16 35
  • 94.81 (n)
cow
(Bos Taurus)
Mammalia FGF8 34 35
  • 94.67 (n)
dog
(Canis familiaris)
Mammalia FGF8 35
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FGF8 35
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves FGF8 34 35
  • 82.29 (n)
lizard
(Anolis carolinensis)
Reptilia FGF8 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgf8 34
  • 73.43 (n)
Str.20147 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.20011 34
zebrafish
(Danio rerio)
Actinopterygii fgf8a 34 35
  • 79.69 (n)
fgf8b 35
  • 65 (a)
OneToMany
fgf8 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 13 (a)
OneToMany
Species where no ortholog for FGF8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FGF8 Gene

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

Paralogs for FGF8 Gene

Paralogs for FGF8 Gene

(8) SIMAP similar genes for FGF8 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FGF8: view

Variants for FGF8 Gene

Sequence variations from dbSNP and Humsavar for FGF8 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs137852659 Pathogenic, Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] 101,775,769(-) TGTTG(A/C)ACTTG reference, missense, utr-variant-5-prime
rs137852660 Pathogenic, Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] 101,775,209(-) AGGCC(C/T)GGGCA intron-variant, reference, missense
rs137852661 Pathogenic, Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] 101,775,168(-) CCCTG(C/T)TCCGG intron-variant, reference, missense
rs137852662 Pathogenic, Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] 101,774,771(-) CCAAC(A/G)AGCGC reference, missense, utr-variant-5-prime
rs137852663 Pathogenic, Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] 101,771,528(-) GAGTT(C/G)GAGTC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FGF8 Gene

Variant ID Type Subtype PubMed ID
dgv171n67 CNV gain 20364138
nsv1070886 CNV deletion 25765185
nsv1131004 CNV deletion 24896259
nsv951003 CNV deletion 24416366

Variation tolerance for FGF8 Gene

Residual Variation Intolerance Score: 37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.37; 8.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FGF8 Gene

Human Gene Mutation Database (HGMD)
FGF8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF8 Gene

Disorders for FGF8 Gene

MalaCards: The human disease database

(32) MalaCards diseases for FGF8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FGF8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGF8_HUMAN
  • 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). {ECO:0000269 PubMed:18596921, ECO:0000269 PubMed:23643382}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in FGF8 as well as in other HH-associated genes including FGFR1 (PubMed:23643382). {ECO:0000269 PubMed:23643382}.

Relevant External Links for FGF8

Genetic Association Database (GAD)
FGF8
Human Genome Epidemiology (HuGE) Navigator
FGF8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FGF8
genes like me logo Genes that share disorders with FGF8: view

No data available for Genatlas for FGF8 Gene

Publications for FGF8 Gene

  1. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. (PMID: 18596921) Falardeau J. … Pitteloud N. (J. Clin. Invest. 2008) 3 4 22 64
  2. FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias. (PMID: 17264867) Beleza-Meireles A. … NordenskjAPld A. (Eur. J. Hum. Genet. 2007) 3 22 46 64
  3. Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain. (PMID: 16384934) Olsen S.K. … Mohammadi M. (Genes Dev. 2006) 3 4 22 64
  4. Structure and sequence of human FGF8. (PMID: 8661131) Gemel J. … Macarthur C.A. (Genomics 1996) 3 4 22 64
  5. The human FGF-8 gene localizes on chromosome 10q24 and is subjected to induction by androgen in breast cancer cells. (PMID: 8700553) Payson R.A. … Chiu I.-M. (Oncogene 1996) 3 4 22 64

Products for FGF8 Gene

Sources for FGF8 Gene

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