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    FGF5 fibroblast growth factor 5 [ Homo sapiens (human) ]

    Gene ID: 2250, updated on 11-Apr-2024

    Summary

    Official Symbol
    FGF5provided by HGNC
    Official Full Name
    fibroblast growth factor 5provided by HGNC
    Primary source
    HGNC:HGNC:3683
    See related
    Ensembl:ENSG00000138675 MIM:165190; AllianceGenome:HGNC:3683
    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
    HBGF-5; TCMGLY; Smag-82
    Summary
    The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members 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 was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in gall bladder (RPKM 2.1), kidney (RPKM 0.5) and 2 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FGF5 in Genome Data Viewer
    Location:
    4q21.21
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (80266588..80291017)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (83596964..83621396)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (81187742..81212171)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11700 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:81111011-81111527 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:81111528-81112043 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:81117267-81117884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:81117885-81118500 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:81121978-81123177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15521 Neighboring gene PRDM8 antisense RNA 1 Neighboring gene uncharacterized LOC124900725 Neighboring gene PR/SET domain 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:81184495-81184996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:81187513-81188044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:81189787-81190357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21654 Neighboring gene mitochondrial ribosomal protein S25 pseudogene 1 Neighboring gene cilia and flagella associated protein 299 Neighboring gene zinc finger protein 341 pseudogene

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Trichomegaly
    MedGen: C0854699 OMIM: 190330 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
    EBI GWAS Catalog
    Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
    EBI GWAS Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association study identifies eight loci associated with blood pressure.
    EBI GWAS Catalog
    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
    EBI GWAS Catalog
    Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
    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 fibroblast growth factor receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in glial cell differentiation IEA
    Inferred from Electronic Annotation
    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 division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cell population proliferation IGI
    Inferred from Genetic Interaction
    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 cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction involved in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    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 5
    Names
    heparin-binding growth factor 5

    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_029501.1 RefSeqGene

      Range
      5077..29430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291812.2NP_001278741.1  fibroblast growth factor 5 isoform 3

      See identical proteins and their annotated locations for NP_001278741.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC021127, AK090557, BQ001160
      UniProtKB/TrEMBL
      Q8NBG6
      Conserved Domains (1) summary
      cl00060
      Location:175
      FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...
    2. NM_004464.4NP_004455.2  fibroblast growth factor 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004455.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC021127
      Consensus CDS
      CCDS34021.1
      UniProtKB/Swiss-Prot
      B2R554, O75846, P12034, Q3Y8M3, Q8NF90
      UniProtKB/TrEMBL
      A0A7U3L5M4
      Related
      ENSP00000311697.7, ENST00000312465.12
      Conserved Domains (1) summary
      pfam00167
      Location:87216
      FGF; Fibroblast growth factor
    3. NM_033143.2NP_149134.1  fibroblast growth factor 5 isoform 2 precursor

      See identical proteins and their annotated locations for NP_149134.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2, also referred to as 'FGF-5S' or 'short isoform') is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AA461028, AF171928, AK090557, BG252761, BQ001160, DR004226
      Consensus CDS
      CCDS3586.1
      UniProtKB/TrEMBL
      Q6A549
      Related
      ENSP00000398353.3, ENST00000456523.3
      Conserved Domains (1) summary
      cl00060
      Location:87116
      FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      80266588..80291017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      83596964..83621396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)