U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    FGF13 fibroblast growth factor 13 [ Homo sapiens (human) ]

    Gene ID: 2258, updated on 10-Dec-2024

    Summary

    Official Symbol
    FGF13provided by HGNC
    Official Full Name
    fibroblast growth factor 13provided by HGNC
    Primary source
    HGNC:HGNC:3670
    See related
    Ensembl:ENSG00000129682 MIM:300070; AllianceGenome:HGNC:3670
    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
    FGF2; FHF2; DEE90; FHF-2; FGF-13; XLID110; LINC00889
    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 is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]
    Expression
    Broad expression in brain (RPKM 11.3), fat (RPKM 6.2) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FGF13 in Genome Data Viewer
    Location:
    Xq26.3-q27.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (138614727..139205023, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (136925164..137515927, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (137696888..138287185, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene keratin 8 pseudogene 6 Neighboring gene H2A.Q variant histone 1, pseudogene Neighboring gene microRNA 504 Neighboring gene FGF13 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:137842490-137843019 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:137859976-137861175 Neighboring gene tropomyosin 2 pseudogene Neighboring gene NFE2L2 motif-containing MPRA enhancer 215 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:138226529-138226732 Neighboring gene uncharacterized LOC124905222 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:138306638-138307247 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:138307248-138307856 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:138423703-138424360 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:138424361-138425018 Neighboring gene SNRPN upstream open reading frame like (pseudogene) Neighboring gene steroid 5 alpha-reductase 1 pseudogene 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (22 hits/891 screens)

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 90
    MedGen: C5542345 OMIM: 301058 GeneReviews: Not available
    Compare labs
    Intellectual developmental disorder, X-linked 110
    MedGen: C5774180 OMIM: 301095 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ30672, FLJ30820

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-tubulin binding  
    enables growth factor activity  
    enables microtubule binding  
    enables protein binding PubMed 
    enables sodium channel regulator activity  
    enables sodium channel regulator activity PubMed 
    enables sodium channel regulator activity PubMed 
    enables transmembrane transporter binding PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within MAPK cascade PubMed 
    involved_in branching morphogenesis of a nerve  
    involved_in cell-cell signaling PubMed 
    involved_in cerebral cortex cell migration  
    involved_in establishment of neuroblast polarity  
    involved_in hippocampus development  
    involved_in inhibitory synapse assembly  
    involved_in learning  
    involved_in memory  
    involved_in microtubule polymerization  
    involved_in negative regulation of collateral sprouting  
    involved_in negative regulation of microtubule depolymerization  
    involved_in nervous system development PubMed 
    involved_in neurogenesis  
    involved_in neuron migration  
    involved_in positive regulation of voltage-gated sodium channel activity PubMed 
    involved_in protein localization to plasma membrane PubMed 
    involved_in regulation of cardiac muscle cell action potential involved in regulation of contraction PubMed 
    involved_in regulation of voltage-gated sodium channel activity  
    involved_in signal transduction PubMed 
    involved_in sodium ion transport PubMed 
    Component Evidence Code Pubs
    located_in axon  
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in dendrite  
    located_in filopodium  
    located_in growth cone  
    located_in intercalated disc PubMed 
    located_in lateral plasma membrane PubMed 
    located_in microtubule  
    located_in neuron projection  
    is_active_in nucleus  
    located_in nucleus PubMed 
    located_in nucleus PubMed 
    located_in plasma membrane  
    located_in sarcolemma  

    General protein information

    Preferred Names
    fibroblast growth factor 13
    Names
    fibroblast growth factor homologous factor 2

    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.

    mRNA and Protein(s)

    1. NM_001139498.2 → NP_001132970.1  fibroblast growth factor 13 isoform 4

      See identical proteins and their annotated locations for NP_001132970.1

      Status: REVIEWED

      Source sequence(s)
      AL031386, AL357123, Z81007, Z82193
      Consensus CDS
      CCDS55512.1
      UniProtKB/Swiss-Prot
      Q92913
      Related
      ENSP00000487411.1, ENST00000626909.2
      Conserved Domains (1) summary
      smart00442
      Location:21 → 151
      FGF; Acidic and basic fibroblast growth factor family
    2. NM_001139500.2 → NP_001132972.1  fibroblast growth factor 13 isoform 2

      See identical proteins and their annotated locations for NP_001132972.1

      Status: REVIEWED

      Source sequence(s)
      AL031386, AL357123, Z81007, Z82193, Z82204
      Consensus CDS
      CCDS55513.1
      Related
      ENSP00000396198.2, ENST00000436198.6
      Conserved Domains (1) summary
      smart00442
      Location:77 → 207
      FGF; Acidic and basic fibroblast growth factor family
    3. NM_001139501.2 → NP_001132973.1  fibroblast growth factor 13 isoform 3

      See identical proteins and their annotated locations for NP_001132973.1

      Status: REVIEWED

      Source sequence(s)
      AL023800, AL031386, AL357123, Z81007, Z82193, Z82204
      Consensus CDS
      CCDS55511.1
      Related
      ENSP00000409276.2, ENST00000441825.8
      Conserved Domains (1) summary
      smart00442
      Location:48 → 178
      FGF; Acidic and basic fibroblast growth factor family
    4. NM_001139502.2 → NP_001132974.1  fibroblast growth factor 13 isoform 3

      See identical proteins and their annotated locations for NP_001132974.1

      Status: REVIEWED

      Source sequence(s)
      AL031386, AL357123, Z82193, Z82204
      Consensus CDS
      CCDS55511.1
      Conserved Domains (1) summary
      smart00442
      Location:48 → 178
      FGF; Acidic and basic fibroblast growth factor family
    5. NM_004114.5 → NP_004105.1  fibroblast growth factor 13 isoform 1

      See identical proteins and their annotated locations for NP_004105.1

      Status: REVIEWED

      Source sequence(s)
      AL031386, AL357123, Z82193
      Consensus CDS
      CCDS14665.1
      UniProtKB/Swiss-Prot
      B1AK18, B7Z4M7, B7Z8N0, D3DWH4, O95830, Q92913, Q9NZH9, Q9NZI0
      UniProtKB/TrEMBL
      A8K1P5
      Related
      ENSP00000322390.6, ENST00000315930.11
      Conserved Domains (1) summary
      smart00442
      Location:67 → 197
      FGF; Acidic and basic fibroblast growth factor family
    6. NM_033642.3 → NP_378668.1  fibroblast growth factor 13 isoform 5

      See identical proteins and their annotated locations for NP_378668.1

      Status: REVIEWED

      Source sequence(s)
      AL031386, AL357123, Z82193
      Consensus CDS
      CCDS14664.1
      UniProtKB/Swiss-Prot
      Q92913
      Related
      ENSP00000303391.4, ENST00000305414.9
      Conserved Domains (1) summary
      smart00442
      Location:14 → 144
      FGF; Acidic and basic fibroblast growth factor family

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      138614727..139205023 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      136925164..137515927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326696.1 → XP_054182671.1  fibroblast growth factor 13 isoform X1

    External link. Please review our privacy policy.