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

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

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
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

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

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
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001139498.2NP_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:21151
    FGF; Acidic and basic fibroblast growth factor family
  2. NM_001139500.2NP_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:77207
    FGF; Acidic and basic fibroblast growth factor family
  3. NM_001139501.2NP_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:48178
    FGF; Acidic and basic fibroblast growth factor family
  4. NM_001139502.2NP_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:48178
    FGF; Acidic and basic fibroblast growth factor family
  5. NM_004114.5NP_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:67197
    FGF; Acidic and basic fibroblast growth factor family
  6. NM_033642.3NP_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:14144
    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_005262399.1XP_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

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.
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