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

    Gene ID: 2258, updated on 16-Apr-2018
    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; Vega:OTTHUMG00000022532
    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; FHF-2; FGF-13
    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
    Location:
    Xq26.3-q27.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (138631573..139222889, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (137713734..138305051, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene keratin 8 pseudogene 6 Neighboring gene long intergenic non-protein coding RNA 889 Neighboring gene microRNA 504 Neighboring gene FGF13 antisense RNA 1 Neighboring gene tropomyosin 1 (alpha) pseudogene Neighboring gene NFE2L2 motif-containing MPRA enhancer 215 Neighboring gene SNRPN upstream reading frame-like (pseudogene) Neighboring gene steroid 5 alpha-reductase 1 pseudogene 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI 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.
    NHGRI GWA Catalog
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    • NRF2 pathway, organism-specific biosystem (from WikiPathways)
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    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
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    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
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    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
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    • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
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    • Ras signaling pathway, organism-specific biosystem (from KEGG)
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    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    beta-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    ion channel binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activator activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    sodium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sodium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    cerebral cortex cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    establishment of neuroblast polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hippocampus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    learning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    microtubule polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of collateral sprouting ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of microtubule depolymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of cardiac muscle cell action potential involved in regulation of contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    response to odorant IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    sodium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    lateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    fibroblast growth factor 13
    Names
    fibroblast growth factor homologous factor 2

    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_001139498.1NP_001132970.1  fibroblast growth factor 13 isoform 4

      See identical proteins and their annotated locations for NP_001132970.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains two additional exons at the 5' end compared to transcript variant 1. This results in a shorter isoform (4) with a different N-terminus compared to isoform 1.
      Source sequence(s)
      BC012347, DC362132
      Consensus CDS
      CCDS55512.1
      UniProtKB/Swiss-Prot
      Q92913
      Related
      ENSP00000487411.1, OTTHUMP00000278824, ENST00000626909.2, OTTHUMT00000483253
      Conserved Domains (1) summary
      smart00442
      Location:21151
      FGF; Acidic and basic fibroblast growth factor family
    2. NM_001139500.1NP_001132972.1  fibroblast growth factor 13 isoform 2

      See identical proteins and their annotated locations for NP_001132972.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains three additional exons at the 5' end compared to transcript variant 1. This results in a slightly longer isoform (2) with a different N-terminus compared to isoform 1.
      Source sequence(s)
      BC012347, BG179556, DC362132
      Consensus CDS
      CCDS55513.1
      UniProtKB/Swiss-Prot
      Q92913
      Related
      ENSP00000396198.2, OTTHUMP00000024145, ENST00000436198.5, OTTHUMT00000058536
      Conserved Domains (1) summary
      smart00442
      Location:77207
      FGF; Acidic and basic fibroblast growth factor family
    3. NM_001139501.1NP_001132973.1  fibroblast growth factor 13 isoform 3

      See identical proteins and their annotated locations for NP_001132973.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains four additional exons at the 5' end compared to transcript variant 1. This results in a slightly shorter isoform (3) with a different N-terminus compared to isoform 1. Variants 3 and 5 encode the same isoform.
      Source sequence(s)
      BC012347, BQ068644, DC362132
      Consensus CDS
      CCDS55511.1
      UniProtKB/Swiss-Prot
      Q92913
      Related
      ENSP00000409276.2, ENST00000441825.8
      Conserved Domains (1) summary
      smart00442
      Location:48178
      FGF; Acidic and basic fibroblast growth factor family
    4. NM_001139502.1NP_001132974.1  fibroblast growth factor 13 isoform 3

      See identical proteins and their annotated locations for NP_001132974.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains two additional exons at the 5' end compared to transcript variant 1. This results in a slightly shorter isoform (3) with a different N-terminus compared to isoform 1. Variants 3 and 5 encode the same isoform.
      Source sequence(s)
      BC012347, BU195176, Z82204
      Consensus CDS
      CCDS55511.1
      UniProtKB/Swiss-Prot
      Q92913
      Conserved Domains (1) summary
      smart00442
      Location:48178
      FGF; Acidic and basic fibroblast growth factor family
    5. NM_004114.3NP_004105.1  fibroblast growth factor 13 isoform 1

      See identical proteins and their annotated locations for NP_004105.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the most predominant transcript and encodes isoform 1.
      Source sequence(s)
      BC012347, Z82193
      Consensus CDS
      CCDS14665.1
      UniProtKB/Swiss-Prot
      Q92913
      UniProtKB/TrEMBL
      A8K1P5
      Related
      ENSP00000322390.6, OTTHUMP00000024143, ENST00000315930.10, OTTHUMT00000058534
      Conserved Domains (1) summary
      smart00442
      Location:67197
      FGF; Acidic and basic fibroblast growth factor family
    6. NM_033642.2NP_378668.1  fibroblast growth factor 13 isoform 5

      See identical proteins and their annotated locations for NP_378668.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' terminal exon compared to transcript variant 1. This results in the shortest isoform (5) with a different N-terminus compared to isoform 1.
      Source sequence(s)
      AF100144, BC012347
      Consensus CDS
      CCDS14664.1
      UniProtKB/Swiss-Prot
      Q92913
      Related
      ENSP00000303391.4, OTTHUMP00000024144, ENST00000305414.8, OTTHUMT00000058535
      Conserved Domains (1) summary
      smart00442
      Location:14144
      FGF; Acidic and basic fibroblast growth factor family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      138631573..139222889 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262399.1XP_005262456.1  fibroblast growth factor 13 isoform X2

      See identical proteins and their annotated locations for XP_005262456.1

      UniProtKB/Swiss-Prot
      Q92913
      Conserved Domains (1) summary
      smart00442
      Location:77207
      FGF; Acidic and basic fibroblast growth factor family
    2. XM_024452352.1XP_024308120.1  fibroblast growth factor 13 isoform X1

      Conserved Domains (1) summary
      smart00442
      Location:88218
      FGF; Acidic and basic fibroblast growth factor family
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