FGF20 fibroblast growth factor 20 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGF20provided by HGNC
Official Full Name: fibroblast growth factor 20provided by HGNC
Primary source: HGNC:HGNC:3677
See related: Ensembl:ENSG00000078579 MIM:605558; AllianceGenome:HGNC:3677
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RHDA2; FGF-20
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 8p22

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (16992181..17002345, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (17260031..17270196, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (16849690..16859854, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.
Title: FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.
Association analysis of SYT11, FGF20, GCH1 rare variants in Parkinson's disease.
Title: Association analysis of SYT11, FGF20, GCH1 rare variants in Parkinson's disease.
Glioma cell-derived FGF20 suppresses macrophage function by activating beta-catenin.
Title: Glioma cell-derived FGF20 suppresses macrophage function by activating β-catenin.
Fibroblast Growth Factor 20 Gene Polymorphism in Parkinson's Disease in Asian Population: A Meta-Analysis.
Title: Fibroblast Growth Factor 20 Gene Polymorphism in Parkinson's Disease in Asian Population: A Meta-Analysis.
Study observed statistically significant differences in genotypic and allelic frequencies of rs1721100 in the FGF20 gene between Parkinson's disease cases and controls but not for rs12720208. Results suggest that FGF 20 is a susceptibility gene for Parkinson's disease in Eastern Indians.
Title: Evaluation of FGF 20 variants for susceptibility to Parkinson's disease in Eastern Indians.
a significant association between a functional polymorphism in the FGF20 gene, which regulates its modulation by miR-433, and depressive symptoms, is reported.
Title: Depressive symptoms are associated with a functional polymorphism in a miR-433 binding site in the FGF20 gene.
Studied effect of recombinant human fibroblast growth factor 20 (rhFGF20) on cultured mouse vibrissal follicles; found rhFGF20 significantly induced growth of the follicles in vitro, stimulated proliferation of hair matrix cells, and activated Wnt signal pathway.
Title: Stimulation of mouse vibrissal follicle growth by recombinant human fibroblast growth factor 20.
This study confirmed that the A allele of rs591323 in FGF20 reduces the risk of developing sporadic PD (P = 0.013). Additionally, subjects with the AA + AG genotype have a reduced risk compared to individuals with the GG genotype (P = 0.024).
Title: Genetic analysis of FGF20 in Chinese patients with Parkinson's disease.
the FGF20 gene might not play a dominating role in the genetic predisposition to essential tremor in Chinese Han population.
Title: Genetic analysis of FGF20 variants in Chinese Han patients with essential tremor.
Meta-analysis indicated that the rs12720208 polymorphism may be associated with the Parkinson's disease susceptibility in Caucasians
Title: Quantitative assessment of the effect of FGF20 rs12720208 variant on the risk of Parkinson's disease: a meta-analysis.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Renal hypodysplasia/aplasia 2 MedGen: C3810359 OMIM: 615721 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482686

NoName (e-PCR)
- UniSTS:480974

FGF20_2882 (e-PCR)
- UniSTS:463585

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fibroblast growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables heparan sulfate proteoglycan binding	TAS Traceable Author Statement more info	PubMed
enables receptor-receptor interaction	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in fibroblast growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in fibroblast growth factor receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in inner ear auditory receptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of dopaminergic neuron differentiation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cardiac muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of dopamine secretion	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: fibroblast growth factor 20

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.