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

    Gene ID: 26281, updated on 28-Oct-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See FGF20 in Genome Data Viewer
    Location:
    8p22
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (16992181..17002345, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (17260031..17270196, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (16849690..16859854, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929028 Neighboring gene mitochondrial ribosomal protein L49 pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:16334715-16335476 Neighboring gene MPRA-validated peak6924 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr8:16633013-16633160 Neighboring gene uncharacterized LOC105379297 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:16683483-16684682 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102343 Neighboring gene RNA, 7SL, cytoplasmic 474, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:16801165-16801750 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:16801751-16802334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27046 Neighboring gene NANOG hESC enhancer GRCh37_chr8:16918455-16918956 Neighboring gene mitochondrial calcium uptake family member 3 Neighboring gene ribosomal protein L9 pseudogene 20

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 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

    Preferred Names
    fibroblast growth factor 20

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_015978.1 RefSeqGene

      Range
      4821..14985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_019851.3NP_062825.1  fibroblast growth factor 20

      See identical proteins and their annotated locations for NP_062825.1

      Status: REVIEWED

      Source sequence(s)
      AB030648, AB044277, AC025218, AC136305, DT220794
      Consensus CDS
      CCDS5998.1
      UniProtKB/Swiss-Prot
      B2RPH5, Q9NP95
      UniProtKB/TrEMBL
      A0A7U3L649
      Related
      ENSP00000180166.5, ENST00000180166.6
      Conserved Domains (1) summary
      pfam00167
      Location:65191
      FGF; Fibroblast growth factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      16992181..17002345 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      17260031..17270196 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)