The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors 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 gene product is a secreted neurotrophic factor bu... See more...

Aliases for FGF20 Gene

Aliases for FGF20 Gene

  • Fibroblast Growth Factor 20 2 3 4 5
  • FGF-20 3 4
  • RHDA2 3
  • FGF20 5

External Ids for FGF20 Gene

Previous GeneCards Identifiers for FGF20 Gene

  • GC08M016743
  • GC08M016930
  • GC08M016860
  • GC08M016894
  • GC08M015395

Summaries for FGF20 Gene

Entrez Gene Summary for FGF20 Gene

  • The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors 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 gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009]

GeneCards Summary for FGF20 Gene

FGF20 (Fibroblast Growth Factor 20) is a Protein Coding gene. Diseases associated with FGF20 include Renal Hypodysplasia/Aplasia 2 and Renal Agenesis, Bilateral. Among its related pathways are RET signaling and Downstream signaling of activated FGFR2. Gene Ontology (GO) annotations related to this gene include growth factor activity and fibroblast growth factor receptor binding. An important paralog of this gene is FGF9.

UniProtKB/Swiss-Prot Summary for FGF20 Gene

  • Neurotrophic factor that regulates central nervous development and function.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FGF20 Gene

Genomics for FGF20 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FGF20 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J017000 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 258 +0.7 679 2.1 ZNF600 ZIC2 ZNF341 ZNF513 FOXA2 SP2 SAP130 KLF16 DRAP1 ZNF189 FGF20 HSALNG0063637 piR-59297-631 MSR1
GH08J017050 Enhancer 1.1 Ensembl ENCODE 11.2 -50.1 -50140 3.4 ZNF580 ATF2 CEBPA CHD4 YY1 FOXA1 FEZF1 HOMEZ KMT2B THAP11 MICU3 FGF20 piR-30449-176 MN298114-246 ZDHHC2
GH08J017049 Enhancer 0.7 ENCODE 11.1 -47.4 -47440 0.5 CEBPA YY1 HOMEZ THAP11 RXRA ETV4 MIER3 ZBTB33 HNF4A HMG20A FGF20 MICU3 piR-30449-176 MN298114-246 ZDHHC2
GH08J016837 Enhancer 0.7 Ensembl ENCODE 11 +164.0 164040 2 CTCF JUND RAD21 MAFK SMC3 EP300 FOS FGF20 ZDHHC2 FJ601678-104 RN7SL474P HSALNG0063631 lnc-FGF20-3 LOC105379297 ENSG00000253496 MSR1
GH08J016779 Enhancer 0.8 Ensembl ENCODE 9.8 +222.1 222083 1.1 ZNF654 REST CTCF RAD21 CUX1 SMC3 ZNF2 SCRT1 ARID3A MIXL1 ZDHHC2 FGF20 piR-36846-006 HSALNG0063628-002 lnc-MICU3-6 ENSG00000253496 MSR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FGF20 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FGF20

Top Transcription factor binding sites by QIAGEN in the FGF20 gene promoter:
  • Cdc5
  • E2F
  • E2F-1
  • Evi-1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • MyoD
  • Nkx2-5

Genomic Locations for FGF20 Gene

Latest Assembly
chr8:16,992,181-17,002,345
(GRCh38/hg38)
Size:
10,165 bases
Orientation:
Minus strand

Previous Assembly
chr8:16,849,690-16,859,854
(GRCh37/hg19 by Entrez Gene)
Size:
10,165 bases
Orientation:
Minus strand

chr8:16,849,678-16,859,690
(GRCh37/hg19 by Ensembl)
Size:
10,013 bases
Orientation:
Minus strand

Genomic View for FGF20 Gene

Genes around FGF20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGF20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGF20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGF20 Gene

Proteins for FGF20 Gene

  • Protein details for FGF20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP95-FGF20_HUMAN
    Recommended name:
    Fibroblast growth factor 20
    Protein Accession:
    Q9NP95
    Secondary Accessions:
    • B2RPH5

    Protein attributes for FGF20 Gene

    Size:
    211 amino acids
    Molecular mass:
    23499 Da
    Quaternary structure:
    • Homodimer. Interacts with FGFR2 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 FGF20 Gene

neXtProt entry for FGF20 Gene

Post-translational modifications for FGF20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FGF20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FGF20 Gene

Domains & Families for FGF20 Gene

Gene Families for FGF20 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for FGF20 Gene

InterPro:
Blocks:
  • Heparin binding growth factor family signature
  • IL1/HBGF family signature

Suggested Antigen Peptide Sequences for FGF20 Gene

GenScript: Design optimal peptide antigens:
  • Fibroblast growth factor 20 (B2RPH5_HUMAN)
  • Fibroblast growth factor 20 (FGF20_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NP95

UniProtKB/Swiss-Prot:

FGF20_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 FGF20: view

Function for FGF20 Gene

Molecular function for FGF20 Gene

UniProtKB/Swiss-Prot Function:
Neurotrophic factor that regulates central nervous development and function.

LifeMap Function Summary for FGF20 Gene

During embryonic development, FGF20 as signaling molecule is secreted from the following cells
It affects the following cells:

Phenotypes From GWAS Catalog for FGF20 Gene

Gene Ontology (GO) - Molecular Function for FGF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding TAS 11306498
GO:0005104 fibroblast growth factor receptor binding IEA,IBA 21873635
GO:0008083 growth factor activity IEA,ISS --
GO:0043395 heparan sulfate proteoglycan binding TAS 11306498
GO:0090722 receptor-receptor interaction IDA 24157794
genes like me logo Genes that share ontologies with FGF20: view
genes like me logo Genes that share phenotypes with FGF20: view

Human Phenotype Ontology for FGF20 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGF20 Gene

MGI Knock Outs for FGF20:

miRNA for FGF20 Gene

miRTarBase miRNAs that target FGF20

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF20

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGF20 Gene

Localization for FGF20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGF20 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 FGF20 gene
Compartment Confidence
extracellular 4
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for FGF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with FGF20: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FGF20 Gene

Pathways & Interactions for FGF20 Gene

PathCards logo

SuperPathways for FGF20 Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling of activated FGFR2
3 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
4 Negative regulation of FGFR3 signaling
5 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
.38
genes like me logo Genes that share pathways with FGF20: view

Pathways by source for FGF20 Gene

59 Qiagen pathways for FGF20 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

Gene Ontology (GO) - Biological Process for FGF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001934 positive regulation of protein phosphorylation IBA 21873635
GO:0007165 signal transduction TAS 10913340
GO:0007267 cell-cell signaling TAS 10913340
GO:0008284 positive regulation of cell proliferation IEA,TAS 11306498
genes like me logo Genes that share ontologies with FGF20: view

No data available for SIGNOR curated interactions for FGF20 Gene

Drugs & Compounds for FGF20 Gene

No Compound Related Data Available

Transcripts for FGF20 Gene

mRNA/cDNA for FGF20 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF20

Alternative Splicing Database (ASD) splice patterns (SP) for FGF20 Gene

No ASD Table

Relevant External Links for FGF20 Gene

GeneLoc Exon Structure for
FGF20

Expression for FGF20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FGF20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGF20 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.3), Brain - Cerebellar Hemisphere (x6.1), and Brain - Cerebellum (x5.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FGF20

SOURCE GeneReport for Unigene cluster for FGF20 Gene:

Hs.199905

mRNA Expression by UniProt/SwissProt for FGF20 Gene:

Q9NP95-FGF20_HUMAN
Tissue specificity: Predominantly expressed in the cerebellum.

Evidence on tissue expression from TISSUES for FGF20 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FGF20 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • esophagus
  • lung
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • urethra
  • urinary bladder
  • uterus
  • vagina
General:
  • skin
genes like me logo Genes that share expression patterns with FGF20: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for FGF20 Gene

Orthologs for FGF20 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF20 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FGF20 29 30
  • 99.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FGF20 29 30
  • 94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FGF20 29 30
  • 92.58 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fgf20 29 16 30
  • 89.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fgf20 29
  • 88.31 (n)
Oppossum
(Monodelphis domestica)
Mammalia FGF20 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FGF20 29 30
  • 82.13 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FGF20 30
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fgf20 29
  • 74.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2769 29
Zebrafish
(Danio rerio)
Actinopterygii fgf20a 30
  • 72 (a)
OneToMany
fgf20b 29 30
  • 68.63 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CS-FGF9/16/20 30
  • 26 (a)
OneToMany
Species where no ortholog for FGF20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 FGF20 Gene

ENSEMBL:
Gene Tree for FGF20 (if available)
TreeFam:
Gene Tree for FGF20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FGF20: view image
Alliance of Genome Resources:
Additional Orthologs for FGF20

Paralogs for FGF20 Gene

(19) SIMAP similar genes for FGF20 Gene using alignment to 3 proteins:

  • FGF20_HUMAN
  • H0YAT9_HUMAN
  • Q4V769_HUMAN
genes like me logo Genes that share paralogs with FGF20: view

Variants for FGF20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FGF20 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs12720208 Uncertain Significance: Parkinson disease, late-onset 16,992,890(-) G/A
NM_019851.3(FGF20):c.*182C>T
THREE_PRIME_UTR
rs1274005326 Likely Benign: not provided 17,001,955(-) C/T
NM_019851.3(FGF20):c.78G>A (p.Leu26=)
SYNONYMOUS
rs1563235398 Uncertain Significance: not provided 17,001,931(-) CGG/TGT
NM_019851.3(FGF20):c.100_102delinsACA (p.Pro34Thr)
MISSENSE
rs1585100306 Likely Pathogenic: Renal hypodysplasia/aplasia 2 16,993,318(-) C/T
NM_019851.3(FGF20):c.391-1G>A
SPLICE_ACCEPTOR
rs17514908 Benign: not provided 17,001,751(-) G/T
NM_019851.3(FGF20):c.282C>A (p.Leu94=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FGF20 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FGF20 Gene

Variant ID Type Subtype PubMed ID
dgv250e55 CNV gain 17911159
esv2759599 CNV gain 17122850
esv3572602 CNV loss 25503493
nsv1018645 CNV gain 25217958
nsv8304 CNV gain+loss 18304495
nsv831243 CNV gain 17160897

Variation tolerance for FGF20 Gene

Residual Variation Intolerance Score: 68.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.99; 60.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FGF20 Gene

Human Gene Mutation Database (HGMD)
FGF20
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGF20
Leiden Open Variation Database (LOVD)
FGF20

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF20 Gene

Disorders for FGF20 Gene

MalaCards: The human disease database

(8) MalaCards diseases for FGF20 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search FGF20 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGF20_HUMAN
  • Renal hypodysplasia/aplasia 2 (RHDA2) [MIM:615721]: A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy. {ECO:0000269 PubMed:22698282}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for FGF20

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FGF20: view

No data available for Genatlas for FGF20 Gene

Publications for FGF20 Gene

  1. FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression. (PMID: 19133659) Wider C … Ross OA (Movement disorders : official journal of the Movement Disorder Society 2009) 3 4 22 40
  2. Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. (PMID: 18252210) Wang G … Vance JM (American journal of human genetics 2008) 3 4 22 40
  3. Molecular cloning and characterization of human FGF-20 on chromosome 8p21.3-p22. (PMID: 10913340) Kirikoshi H … Katoh M (Biochemical and biophysical research communications 2000) 2 3 4 22
  4. FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. (PMID: 22698282) Barak H … Kopan R (Developmental cell 2012) 3 4 72
  5. Homodimerization controls the fibroblast growth factor 9 subfamily's receptor binding and heparan sulfate-dependent diffusion in the extracellular matrix. (PMID: 19564416) Kalinina J … Mohammadi M (Molecular and cellular biology 2009) 3 4 22

Products for FGF20 Gene

Sources for FGF20 Gene