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

Gene ID: 2258, updated on 26-May-2016
Official Symbol
FGF13provided by HGNC
Official Full Name
fibroblast growth factor 13provided by HGNC
Primary source
HGNC:HGNC:3670
See related
Ensembl:ENSG00000129682 HPRD:02090; 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 mental retardation 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]
Orthologs
Location:
Xq26.3
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 SNRPN upstream reading frame-like (pseudogene) Neighboring gene steroid 5 alpha-reductase 1 pseudogene 1

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
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Melanoma, organism-specific biosystem (from KEGG)
    Melanoma, organism-specific biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
  • Melanoma, conserved biosystem (from KEGG)
    Melanoma, conserved biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • 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)
    Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • 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
 
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 
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
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasm IPI
Inferred from Physical Interaction
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
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
 
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 
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, OTTHUMP00000278824, ENST00000626909, OTTHUMT00000483253
    Conserved Domains (1) summary
    cd00058
    Location:26152
    FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...
  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, OTTHUMP00000024145, ENST00000436198, OTTHUMT00000058536
    Conserved Domains (1) summary
    cd00058
    Location:82208
    FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...
  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
    Conserved Domains (1) summary
    cd00058
    Location:53179
    FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...
  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
    Related
    ENSP00000409276, ENST00000441825
    Conserved Domains (1) summary
    cd00058
    Location:53179
    FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...
  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, OTTHUMP00000024143, ENST00000315930, OTTHUMT00000058534
    Conserved Domains (1) summary
    cd00058
    Location:72198
    FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...
  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, OTTHUMP00000024144, ENST00000305414, OTTHUMT00000058535
    Conserved Domains (1) summary
    cd00058
    Location:19145
    FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005262399.1XP_005262456.1  

    See identical proteins and their annotated locations for XP_005262456.1

    UniProtKB/Swiss-Prot
    Q92913
    Conserved Domains (1) summary
    cd00058
    Location:82208
    FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...
  2. XM_011531315.1XP_011529617.1  

    Conserved Domains (1) summary
    cd00058
    Location:93219
    FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    137624856..138198651 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)