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

Gene ID: 2258, updated on 6-May-2021

Summary

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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
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; 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
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Genomic context

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See FGF13 in Genome Data Viewer
Location:
Xq26.3-q27.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (138614727..139222889, complement)
105.20201022 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 tropomyosin 2 pseudogene Neighboring gene NFE2L2 motif-containing MPRA enhancer 215 Neighboring gene SNRPN upstream open reading frame like (pseudogene) Neighboring gene steroid 5 alpha-reductase 1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy. Fry AE, et al. Am J Hum Genet, 2021 Jan 7. PMID 33245860,
  2. FGF13 promotes metastasis of triple-negative breast cancer. Johnstone CN, et al. Int J Cancer, 2020 Jul 1. PMID 31957002
  3. Intrafollicular fibroblast growth factor 13 in polycystic ovary syndrome: relationship with androgen levels and oocyte developmental competence. Liu Y, et al. J Ovarian Res, 2018 Sep 26. PMID 30257687, Free PMC Article
  4. Decreased expression of fibroblast growth factor 13 in early-onset preeclampsia is associated with the increased trophoblast permeability. Yue X, et al. Placenta, 2018 Feb. PMID 29405966
  5. Regulatory module involving FGF13, miR-504, and p53 regulates ribosomal biogenesis and supports cancer cell survival. Bublik DR, et al. Proc Natl Acad Sci U S A, 2017 Jan 24. PMID 27994142, Free PMC Article

See all (46) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FGF13 promotes metastasis of triple-negative breast cancer.
    Title: FGF13 promotes metastasis of triple-negative breast cancer.
  2. Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
    Title: Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
  3. The knockdown of FGF13 was able to mimic the inhibitory effects of miR-10b on the progression of colorectal cancer (CRC) cells.
    Title: MiR-10b suppresses the growth and metastasis of colorectal cancer cell by targeting FGF13.
  4. Genetic polymorphisms in FGF3, FGF10, and FGF13 genes were associated with temporomandibular disorders in a population with dentofacial deformities
    Title: Polymorphisms in FGF3, FGF10, and FGF13 May Contribute to the Presence of Temporomandibular Disorders in Patients Who Required Orthognathic Surgery.
  5. High FGF13 expression is associated with glioma cell invasion.
    Title: Fibroblast growth factor 13 regulates glioma cell invasion and is important for bevacizumab-induced glioma invasion.
  6. The present study reported the presence of FGF13 in the follicular fluid of women undergoing IVF/ICSI. Moreover, the relationships between FF-FGF13 and FF-TT, ovarian morphology and oocyte developmental competence imply that FF-FGF13 might be involved in the pathophysiological process of polycystic ovary syndrome.
    Title: Intrafollicular fibroblast growth factor 13 in polycystic ovary syndrome: relationship with androgen levels and oocyte developmental competence.
  7. Autism-related protein MeCP2 regulates FGF13 expression and emotional behaviors
    Title: Autism-related protein MeCP2 regulates FGF13 expression and emotional behaviors.
  8. FGF13 was downregulated in human placentae with early-onset preeclampsia. FGF13 played an important role in maintaining placental trophoblast permeability via the modulation of E-cadherin.
    Title: Decreased expression of fibroblast growth factor 13 in early-onset preeclampsia is associated with the increased trophoblast permeability.
  9. We propose that, in cells in which activated oncogenes drive excessive protein synthesis, FGF13 may favor survival by maintaining translation rates at a level compatible with the protein quality-control capacity of the cell. Thus, FGF13 may serve as an enabler, allowing cancer cells to evade proteostasis stress triggered by oncogene activation.
    Title: Regulatory module involving FGF13, miR-504, and p53 regulates ribosomal biogenesis and supports cancer cell survival.
  10. Study screened the coding and splice site regions of the FGF13 gene in a sample of 45 unrelated probands where genetic epilepsy with febrile seizures plus segregated in an X-linked pattern; subsequently identified a de novo FGF13 missense variant in an additional patient with febrile seizures and facial edema. Results suggest that FGF13 is not a common cause of genetic epilepsy with febrile seizures plus.
    Title: Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90
MedGen: CN295287 OMIM: 301058 GeneReviews: Not available
not available
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.
GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ30672, FLJ30820

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    UniProtKB/Swiss-Prot
    Q92913
    Related
    ENSP00000396198.2, ENST00000436198.5
    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
    UniProtKB/Swiss-Prot
    Q92913
    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
    UniProtKB/Swiss-Prot
    Q92913
    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
    Q92913
    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, ENST00000305414.8
    Conserved Domains (1) summary
    smart00442
    Location:14 → 144
    FGF; Acidic and basic fibroblast growth factor family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    138614727..139222889 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262399.1 → XP_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:77 → 207
    FGF; Acidic and basic fibroblast growth factor family

  2. XM_024452352.1 → XP_024308120.1  fibroblast growth factor 13 isoform X1

    Conserved Domains (1) summary
    smart00442
    Location:88 → 218
    FGF; Acidic and basic fibroblast growth factor family

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_026935.1: Suppressed sequence

    Description
    NR_026935.1: This RefSeq was removed because the gene was discontinued.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92913.1 GenPept UniProtKB/Swiss-Prot:Q92913

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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