U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    FGF17 fibroblast growth factor 17 [ Homo sapiens (human) ]

    Gene ID: 8822, updated on 17-Jun-2024

    Summary

    Official Symbol
    FGF17provided by HGNC
    Official Full Name
    fibroblast growth factor 17provided by HGNC
    Primary source
    HGNC:HGNC:3673
    See related
    Ensembl:ENSG00000158815 MIM:603725; AllianceGenome:HGNC:3673
    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
    HH20; FGF-13; FGF-17
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FGF17 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22039672..22048809)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22313628..22322765)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21900264..21906320)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene exportin 7 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21802075-21802708 Neighboring gene uncharacterized LOC124901903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21806752-21807252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27071 Neighboring gene VISTA enhancer hs783 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21867514-21868173 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21868174-21868832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21880733-21881446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21881447-21882159 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21893938-21894622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21894623-21895307 Neighboring gene VISTA enhancer hs782 Neighboring gene nucleophosmin/nucleoplasmin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21903342-21903848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21903849-21904354 Neighboring gene VISTA enhancer hs781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21908959-21909751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21915443-21916404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21917368-21918329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18975 Neighboring gene dematin actin binding protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21943692-21944301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21951526-21952026 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:21961808-21961955 Neighboring gene FHF complex subunit HOOK interacting protein 2B

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    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 growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables type 1 fibroblast growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables type 1 fibroblast growth factor receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables type 2 fibroblast growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables type 2 fibroblast growth factor receptor binding IDA
    Inferred from Direct Assay
    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 nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    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 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 cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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 17

    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_033889.1 RefSeqGene

      Range
      4904..10893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001304478.1NP_001291407.1  fibroblast growth factor 17 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001291407.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC091171, BM666883, DR159037
      Consensus CDS
      CCDS78310.1
      UniProtKB/Swiss-Prot
      O60258
      Related
      ENSP00000431041.1, ENST00000518533.5
      Conserved Domains (1) summary
      pfam00167
      Location:42164
      FGF; Fibroblast growth factor
    2. NM_003867.4NP_003858.1  fibroblast growth factor 17 isoform 1 precursor

      See identical proteins and their annotated locations for NP_003858.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC091171, BC105131, BM666883
      Consensus CDS
      CCDS6019.1
      UniProtKB/Swiss-Prot
      B7ZLG4, O60258, Q2M2W1
      Related
      ENSP00000352414.3, ENST00000359441.4
      Conserved Domains (1) summary
      pfam00167
      Location:53175
      FGF; Fibroblast growth factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      22039672..22048809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544683.2XP_011542985.1  fibroblast growth factor 17 isoform X2

      See identical proteins and their annotated locations for XP_011542985.1

      Conserved Domains (1) summary
      pfam00167
      Location:69191
      FGF; Fibroblast growth factor
    2. XM_011544685.2XP_011542987.1  fibroblast growth factor 17 isoform X3

      Conserved Domains (1) summary
      pfam00167
      Location:58180
      FGF; Fibroblast growth factor
    3. XM_011544684.2XP_011542986.1  fibroblast growth factor 17 isoform X2

      See identical proteins and their annotated locations for XP_011542986.1

      Conserved Domains (1) summary
      pfam00167
      Location:69191
      FGF; Fibroblast growth factor
    4. XM_005273675.2XP_005273732.1  fibroblast growth factor 17 isoform X1

      See identical proteins and their annotated locations for XP_005273732.1

      UniProtKB/TrEMBL
      A0A7U3JVY9
      Related
      ENST00000524314.1
      Conserved Domains (1) summary
      pfam00167
      Location:76198
      FGF; Fibroblast growth factor

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      22313628..22322765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361441.1XP_054217416.1  fibroblast growth factor 17 isoform X2

    2. XM_054361443.1XP_054217418.1  fibroblast growth factor 17 isoform X3

    3. XM_054361442.1XP_054217417.1  fibroblast growth factor 17 isoform X2

    4. XM_054361440.1XP_054217415.1  fibroblast growth factor 17 isoform X1

      UniProtKB/TrEMBL
      A0A7U3JVY9