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Protein

Fibroblast growth factor 20

Gene

FGF20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Neurotrophic factor that regulates central nervous development and function.1 Publication

Caution

It is uncertain whether variants in this gene are associated with Parkinson disease. Some authors mention association with the disease (PubMed:18252210). In contrast, some others do not observe any association (PubMed:19133659).2 Publications

GO - Molecular functioni

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • fibroblast growth factor receptor signaling pathway Source: ParkinsonsUK-UCL
  • inner ear receptor cell differentiation Source: Ensembl
  • MAPK cascade Source: Reactome
  • negative regulation of neuron apoptotic process Source: ParkinsonsUK-UCL
  • positive regulation of cell proliferation Source: ParkinsonsUK-UCL
  • positive regulation of dopaminergic neuron differentiation Source: ParkinsonsUK-UCL
  • positive regulation of ERK1 and ERK2 cascade Source: Ensembl
  • positive regulation of protein kinase B signaling Source: Reactome
  • regulation of cardiac muscle cell proliferation Source: Ensembl
  • regulation of dopamine secretion Source: ParkinsonsUK-UCL
  • signal transduction Source: ProtInc

Keywordsi

Molecular functionGrowth factor

Enzyme and pathway databases

ReactomeiR-HSA-109704 PI3K Cascade
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-1839122 Signaling by activated point mutants of FGFR1
R-HSA-1839130 Signaling by activated point mutants of FGFR3
R-HSA-190322 FGFR4 ligand binding and activation
R-HSA-190371 FGFR3b ligand binding and activation
R-HSA-190372 FGFR3c ligand binding and activation
R-HSA-190373 FGFR1c ligand binding and activation
R-HSA-190375 FGFR2c ligand binding and activation
R-HSA-2033514 FGFR3 mutant receptor activation
R-HSA-2033519 Activated point mutants of FGFR2
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-5654219 Phospholipase C-mediated cascade: FGFR1
R-HSA-5654221 Phospholipase C-mediated cascade, FGFR2
R-HSA-5654227 Phospholipase C-mediated cascade, FGFR3
R-HSA-5654228 Phospholipase C-mediated cascade, FGFR4
R-HSA-5654687 Downstream signaling of activated FGFR1
R-HSA-5654688 SHC-mediated cascade:FGFR1
R-HSA-5654689 PI-3K cascade:FGFR1
R-HSA-5654693 FRS-mediated FGFR1 signaling
R-HSA-5654695 PI-3K cascade:FGFR2
R-HSA-5654699 SHC-mediated cascade:FGFR2
R-HSA-5654700 FRS-mediated FGFR2 signaling
R-HSA-5654704 SHC-mediated cascade:FGFR3
R-HSA-5654706 FRS-mediated FGFR3 signaling
R-HSA-5654710 PI-3K cascade:FGFR3
R-HSA-5654712 FRS-mediated FGFR4 signaling
R-HSA-5654719 SHC-mediated cascade:FGFR4
R-HSA-5654720 PI-3K cascade:FGFR4
R-HSA-5654726 Negative regulation of FGFR1 signaling
R-HSA-5654727 Negative regulation of FGFR2 signaling
R-HSA-5654732 Negative regulation of FGFR3 signaling
R-HSA-5654733 Negative regulation of FGFR4 signaling
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-8853338 Signaling by FGFR3 point mutants in cancer

Names & Taxonomyi

Protein namesi
Recommended name:
Fibroblast growth factor 20
Short name:
FGF-20
Gene namesi
Name:FGF20
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000078579.8
HGNCiHGNC:3677 FGF20
MIMi605558 gene
neXtProtiNX_Q9NP95

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Renal hypodysplasia/aplasia 2 (RHDA2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy.
See also OMIM:615721

Organism-specific databases

DisGeNETi26281
MalaCardsiFGF20
MIMi615721 phenotype
OpenTargetsiENSG00000078579
Orphaneti1848 Bilateral renal agenesis
PharmGKBiPA28116

Polymorphism and mutation databases

BioMutaiFGF20
DMDMi13626702

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001476161 – 211Fibroblast growth factor 20Add BLAST211

Proteomic databases

PaxDbiQ9NP95
PRIDEiQ9NP95
ProteomicsDBi81938

PTM databases

iPTMnetiQ9NP95
PhosphoSitePlusiQ9NP95

Expressioni

Tissue specificityi

Predominantly expressed in the cerebellum.1 Publication

Gene expression databases

BgeeiENSG00000078579
CleanExiHS_FGF20
ExpressionAtlasiQ9NP95 baseline and differential
GenevisibleiQ9NP95 HS

Interactioni

Subunit structurei

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.2 Publications

GO - Molecular functioni

  • fibroblast growth factor receptor binding Source: Ensembl
  • growth factor activity Source: ParkinsonsUK-UCL
  • heparan sulfate proteoglycan binding Source: ParkinsonsUK-UCL
  • Ras guanyl-nucleotide exchange factor activity Source: Reactome
  • receptor-receptor interaction Source: ParkinsonsUK-UCL
  • signaling receptor binding Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi117664, 1 interactor
STRINGi9606.ENSP00000180166

Structurei

Secondary structure

1211
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi56 – 64Combined sources9
Beta strandi66 – 71Combined sources6
Turni72 – 74Combined sources3
Beta strandi75 – 79Combined sources5
Beta strandi85 – 89Combined sources5
Beta strandi94 – 104Combined sources11
Beta strandi107 – 112Combined sources6
Turni113 – 115Combined sources3
Beta strandi118 – 121Combined sources4
Beta strandi127 – 132Combined sources6
Helixi135 – 137Combined sources3
Beta strandi139 – 145Combined sources7
Beta strandi148 – 157Combined sources10
Turni159 – 161Combined sources3
Beta strandi164 – 166Combined sources3
Beta strandi173 – 175Combined sources3
Helixi178 – 180Combined sources3
Helixi186 – 188Combined sources3
Beta strandi190 – 193Combined sources4
Helixi197 – 199Combined sources3
Helixi201 – 203Combined sources3

3D structure databases

ProteinModelPortaliQ9NP95
SMRiQ9NP95
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NP95

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3885 Eukaryota
ENOG4111IPH LUCA
GeneTreeiENSGT00760000118859
HOGENOMiHOG000236341
HOVERGENiHBG007580
InParanoidiQ9NP95
KOiK04358
OMAiRRHQRFT
OrthoDBiEOG091G0NAY
PhylomeDBiQ9NP95
TreeFamiTF317805

Family and domain databases

CDDicd00058 FGF, 1 hit
InterProiView protein in InterPro
IPR028291 FGF20
IPR002209 Fibroblast_GF_fam
IPR008996 IL1/FGF
PANTHERiPTHR11486 PTHR11486, 1 hit
PTHR11486:SF72 PTHR11486:SF72, 1 hit
PfamiView protein in Pfam
PF00167 FGF, 1 hit
PRINTSiPR00263 HBGFFGF
SMARTiView protein in SMART
SM00442 FGF, 1 hit
SUPFAMiSSF50353 SSF50353, 1 hit
PROSITEiView protein in PROSITE
PS00247 HBGF_FGF, 1 hit

Sequencei

Sequence statusi: Complete.

Q9NP95-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAPLAEVGGF LGGLEGLGQQ VGSHFLLPPA GERPPLLGER RSAAERSARG
60 70 80 90 100
GPGAAQLAHL HGILRRRQLY CRTGFHLQIL PDGSVQGTRQ DHSLFGILEF
110 120 130 140 150
ISVAVGLVSI RGVDSGLYLG MNDKGELYGS EKLTSECIFR EQFEENWYNT
160 170 180 190 200
YSSNIYKHGD TGRRYFVALN KDGTPRDGAR SKRHQKFTHF LPRPVDPERV
210
PELYKDLLMY T
Length:211
Mass (Da):23,499
Last modified:October 1, 2000 - v1
Checksum:iAB04608C16060CC1
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020946116G → R1 PublicationCorresponds to variant dbSNP:rs3793405Ensembl.1
Natural variantiVAR_020947175P → A1 PublicationCorresponds to variant dbSNP:rs10089600Ensembl.1
Natural variantiVAR_020948206D → N1 PublicationCorresponds to variant dbSNP:rs17550360Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB044277 mRNA Translation: BAB03633.1
AB030648 mRNA Translation: BAB03530.1
AY696296 Genomic DNA Translation: AAT85804.1
CH471080 Genomic DNA Translation: EAW63828.1
BC137446 mRNA Translation: AAI37447.1
BC137447 mRNA Translation: AAI37448.1
CCDSiCCDS5998.1
PIRiJC7353
RefSeqiNP_062825.1, NM_019851.2
UniGeneiHs.199905

Genome annotation databases

EnsembliENST00000180166; ENSP00000180166; ENSG00000078579
GeneIDi26281
KEGGihsa:26281
UCSCiuc003wxc.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFGF20_HUMAN
AccessioniPrimary (citable) accession number: Q9NP95
Secondary accession number(s): B2RPH5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: October 1, 2000
Last modified: June 20, 2018
This is version 138 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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