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    FGF9 fibroblast growth factor 9 [ Homo sapiens (human) ]

    Gene ID: 2254, updated on 27-Nov-2024

    Summary

    Official Symbol
    FGF9provided by HGNC
    Official Full Name
    fibroblast growth factor 9provided by HGNC
    Primary source
    HGNC:HGNC:3687
    See related
    Ensembl:ENSG00000102678 MIM:600921; AllianceGenome:HGNC:3687
    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
    GAF; FGF-9; SYNS3; HBFG-9; HBGF-9
    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 protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in kidney (RPKM 6.4), adrenal (RPKM 2.1) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FGF9 in Genome Data Viewer
    Location:
    13q12.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (21671073..21704498)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (20865413..20898835)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (22245212..22278637)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene mitochondrial calcium uptake 2 Neighboring gene RNA, U6 small nuclear 59, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7438 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:22177403-22178022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:22178023-22178641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7440 Neighboring gene ribosomal protein S7 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:22330294-22330991 Neighboring gene uncharacterized LOC124903132 Neighboring gene RNA, 7SL, cytoplasmic 766, 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
    Multiple synostoses syndrome 3
    MedGen: C2751826 OMIM: 612961 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates the expression of fibroblast growth factor 9 (FGF9) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC119914, MGC119915

    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 heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Sertoli cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eye development IEA
    Inferred from Electronic Annotation
    more info
     
    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 IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung-associated mesenchyme development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male gonad development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in male sex determination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in osteoblast differentiation 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 activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    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 
    involved_in positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of vascular associated smooth muscle cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of vascular associated smooth muscle cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of vascular endothelial growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein import into nucleus 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 timing of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in substantia nigra development HEP PubMed 
    involved_in vascular endothelial growth factor receptor signaling pathway 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
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    fibroblast growth factor 9
    Names
    fibroblast growth factor 9 (glia-activating factor)
    heparin-binding growth factor 9

    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_016272.1 RefSeqGene

      Range
      4998..38423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002010.3NP_002001.1  fibroblast growth factor 9 precursor

      See identical proteins and their annotated locations for NP_002001.1

      Status: REVIEWED

      Source sequence(s)
      AK290792, AL139378, CR746503, D14838
      Consensus CDS
      CCDS9298.1
      UniProtKB/Swiss-Prot
      A8K427, P31371, Q3SY32
      UniProtKB/TrEMBL
      A0A7U3L6D0
      Related
      ENSP00000371790.5, ENST00000382353.6
      Conserved Domains (1) summary
      pfam00167
      Location:62188
      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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      21671073..21704498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534996.3XP_011533298.1  fibroblast growth factor 9 isoform X1

      Conserved Domains (1) summary
      smart00442
      Location:40140
      FGF; Acidic and basic fibroblast growth factor family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      20865413..20898835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374221.1XP_054230196.1  fibroblast growth factor 9 isoform X1