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Aliases for FGF17 Gene

Aliases for FGF17 Gene

  • Fibroblast Growth Factor 17 2 3 5
  • FGF-17 3 4
  • FGF-13 3
  • HH20 3

External Ids for FGF17 Gene

Previous GeneCards Identifiers for FGF17 Gene

  • GC08P021659
  • GC08P022253
  • GC08P021720
  • GC08P021922
  • GC08P021956
  • GC08P020442
  • GC08P021899

Summaries for FGF17 Gene

Entrez Gene Summary for FGF17 Gene

  • This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

GeneCards Summary for FGF17 Gene

FGF17 (Fibroblast Growth Factor 17) is a Protein Coding gene. Diseases associated with FGF17 include Hypogonadotropic Hypogonadism 20 With Or Without Anosmia and Normosmic Congenital Hypogonadotropic Hypogonadism. Among its related pathways are GPCR Pathway and RET 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 FGF8.

UniProtKB/Swiss-Prot for FGF17 Gene

  • Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development.

Gene Wiki entry for FGF17 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGF17 Gene

Genomics for FGF17 Gene

Regulatory Elements for FGF17 Gene

Enhancers for FGF17 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
GH08G021917 1.5 FANTOM5 ENCODE 16.8 -119.6 -119595 4.3 HDGF HNRNPUL1 PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A ENSG00000253200 BIN3 FGF17 NPM2 C8orf58 POLR3D GFRA2 DMTN DOK2 PHYHIP
GH08G022741 1.7 Ensembl ENCODE dbSUPER 12.5 +706.1 706139 7.8 CREB3L1 MLX DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 POLR3D PHYHIP FGF17 BIN3 LOC101929237 ENSG00000251034 SORBS3 GC08M022705 GC08P022700
GH08G021907 1.2 ENCODE dbSUPER 17.4 -128.3 -128257 7.8 PKNOX1 WRNIP1 ARID4B TCF12 ZNF766 GLIS2 ZNF143 FOS JUNB MXD4 FGF17 NPM2 HR SORBS3 GFRA2 DOK2 GC08M021903
GH08G022009 1.7 FANTOM5 Ensembl ENCODE 12.2 -29.2 -29209 1.8 PKNOX1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 PHYHIP FGF17 GFRA2 NPM2 DMTN LGI3 PIR59461 GC08P022006
GH08G022493 0.9 dbSUPER 22.6 +454.8 454815 1.5 FOXA2 SIN3A FEZF1 ZNF121 FOS DEK TSHZ1 TBX21 ZNF518A SSRP1 PHYHIP FGF17 PPP3CC ENSG00000253200 SORBS3 RNU6-336P ENSG00000251034 PDLIM2 ENSG00000248235 C8orf58
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FGF17 on UCSC Golden Path with GeneCards custom track

Genomic Location for FGF17 Gene

Chromosome:
8
Start:
22,039,709 bp from pter
End:
22,048,809 bp from pter
Size:
9,101 bases
Orientation:
Plus strand

Genomic View for FGF17 Gene

Genes around FGF17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGF17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGF17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGF17 Gene

Proteins for FGF17 Gene

  • Protein details for FGF17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60258-FGF17_HUMAN
    Recommended name:
    Fibroblast growth factor 17
    Protein Accession:
    O60258
    Secondary Accessions:
    • B7ZLG4
    • Q2M2W1

    Protein attributes for FGF17 Gene

    Size:
    216 amino acids
    Molecular mass:
    24891 Da
    Quaternary structure:
    • Interacts with FGFR3 and FGFR4.

    Alternative splice isoforms for FGF17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FGF17 Gene

Post-translational modifications for FGF17 Gene

  • Glycosylation at Asn137
  • Modification sites at PhosphoSitePlus

Other Protein References for FGF17 Gene

No data available for DME Specific Peptides for FGF17 Gene

Domains & Families for FGF17 Gene

Protein Domains for FGF17 Gene

Suggested Antigen Peptide Sequences for FGF17 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60258

UniProtKB/Swiss-Prot:

FGF17_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 FGF17: view

No data available for Gene Families for FGF17 Gene

Function for FGF17 Gene

Molecular function for FGF17 Gene

GENATLAS Biochemistry:
fibroblast growth factor 17,secreted signaling molecule in the induction and patterning of the embryonic brain
UniProtKB/Swiss-Prot Function:
Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development.

Gene Ontology (GO) - Molecular Function for FGF17 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:0005105 type 1 fibroblast growth factor receptor binding IDA 16384934
GO:0005111 type 2 fibroblast growth factor receptor binding IDA 16384934
genes like me logo Genes that share ontologies with FGF17: view
genes like me logo Genes that share phenotypes with FGF17: view

Human Phenotype Ontology for FGF17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGF17 Gene

MGI Knock Outs for FGF17:

Animal Model Products

  • Taconic Biosciences Mouse Models for FGF17

miRNA for FGF17 Gene

miRTarBase miRNAs that target FGF17

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGF17 Gene

Localization for FGF17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGF17 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 FGF17 gene
Compartment Confidence
extracellular 5
cytoskeleton 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FGF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS 9514906
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with FGF17: view

Pathways & Interactions for FGF17 Gene

SuperPathways for FGF17 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 FGF17: view

SIGNOR curated interactions for FGF17 Gene

Activates:

Gene Ontology (GO) - Biological Process for FGF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007165 signal transduction TAS 9514906
GO:0007267 cell-cell signaling TAS 9514906
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development TAS 9514906
genes like me logo Genes that share ontologies with FGF17: view

Transcripts for FGF17 Gene

mRNA/cDNA for FGF17 Gene

Unigene Clusters for FGF17 Gene

Fibroblast growth factor 17:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FGF17 Gene

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

Relevant External Links for FGF17 Gene

GeneLoc Exon Structure for
FGF17
ECgene alternative splicing isoforms for
FGF17

Expression for FGF17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FGF17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGF17 Gene

This gene is overexpressed in Brain - Cerebellum (x12.3), Brain - Cerebellar Hemisphere (x10.1), and Brain - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for FGF17 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FGF17 Gene



Protein tissue co-expression partners for FGF17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FGF17 Gene:

FGF17

SOURCE GeneReport for Unigene cluster for FGF17 Gene:

Hs.248192

mRNA Expression by UniProt/SwissProt for FGF17 Gene:

O60258-FGF17_HUMAN
Tissue specificity: Preferentially expressed in the embryonic brain.

Evidence on tissue expression from TISSUES for FGF17 Gene

  • Nervous system(4.6)
  • Heart(2.9)
  • Muscle(2.6)
  • Stomach(2.4)
  • Intestine(2.1)
  • Kidney(2.1)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FGF17 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
  • 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 FGF17: view

Primer Products

Orthologs for FGF17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FGF17 34 35
  • 99.38 (n)
oppossum
(Monodelphis domestica)
Mammalia FGF17 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FGF17 34 35
  • 93.67 (n)
mouse
(Mus musculus)
Mammalia Fgf17 34 16 35
  • 91.51 (n)
rat
(Rattus norvegicus)
Mammalia Fgf17 34
  • 91.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FGF17 35
  • 86 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FGF17 35
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fgf17 34 35
  • 75.67 (n)
Dr.29087 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 13 (a)
OneToMany
Species where no ortholog for FGF17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FGF17 Gene

ENSEMBL:
Gene Tree for FGF17 (if available)
TreeFam:
Gene Tree for FGF17 (if available)

Paralogs for FGF17 Gene

Paralogs for FGF17 Gene

(2) SIMAP similar genes for FGF17 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FGF17: view

Variants for FGF17 Gene

Sequence variations from dbSNP and Humsavar for FGF17 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs398123024 other, Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270] 22,046,599(+) GTACA(C/T)CTGTA reference, missense
rs398123025 Pathogenic, Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270] 22,048,128(+) CAAGC(A/G)CCTCT upstream-variant-2KB, reference, missense
rs398123026 Pathogenic, Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270] 22,048,158(+) CCCCA(A/G)CCACG upstream-variant-2KB, reference, missense
rs1000334107 -- 22,044,029(+) AATTC(C/T)CCCCC intron-variant, upstream-variant-2KB
rs1000406471 -- 22,044,214(+) GGCCC(C/T)ATTCA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for FGF17 Gene

Variant ID Type Subtype PubMed ID
dgv12054n54 CNV loss 21841781
esv2759604 CNV loss 17122850
nsv1119170 CNV deletion 24896259
nsv465613 CNV loss 19166990
nsv528590 CNV loss 19592680
nsv610764 CNV loss 21841781
nsv610765 CNV loss 21841781
nsv831263 CNV loss 17160897
nsv951112 CNV deletion 24416366

Variation tolerance for FGF17 Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FGF17 Gene

Human Gene Mutation Database (HGMD)
FGF17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGF17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF17 Gene

Disorders for FGF17 Gene

MalaCards: The human disease database

(6) MalaCards diseases for FGF17 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 20 with or without anosmia
  • hh20
normosmic congenital hypogonadotropic hypogonadism
  • isolated congenital gonadotropin deficiency
kallmann syndrome
  • familial hypogonadism with anosmia
hypogonadism
duane retraction syndrome 1
  • duane anomaly
- elite association - COSMIC cancer census association via MalaCards
Search FGF17 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGF17_HUMAN
  • Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270]: 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:23643382}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FGF17 also have a mutation in another HH-associated gene including FGFR1, HS6ST1 and FLRT3 (PubMed:23643382). {ECO:0000269 PubMed:23643382}.

Relevant External Links for FGF17

Genetic Association Database (GAD)
FGF17
Human Genome Epidemiology (HuGE) Navigator
FGF17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FGF17
genes like me logo Genes that share disorders with FGF17: view

No data available for Genatlas for FGF17 Gene

Publications for FGF17 Gene

  1. Structure and expression of a novel fibroblast growth factor, FGF-17, preferentially expressed in the embryonic brain. (PMID: 9514906) Hoshikawa M. … Itoh N. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 22 64
  2. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. (PMID: 23643382) Miraoui H. … Pitteloud N. (Am. J. Hum. Genet. 2013) 3 4 64
  3. Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. (PMID: 16597617) Zhang X. … Ornitz D.M. (J. Biol. Chem. 2006) 3 4 64
  4. FGF17 is an autocrine prostatic epithelial growth factor and is upregulated in benign prostatic hyperplasia. (PMID: 15129425) Polnaszek N. … Ittmann M. (Prostate 2004) 3 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for FGF17 Gene

Sources for FGF17 Gene

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