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Aliases for FGF13 Gene

Aliases for FGF13 Gene

  • Fibroblast Growth Factor 13 2 3 5
  • Fibroblast Growth Factor Homologous Factor 2 2 3 4
  • FGF-13 3 4
  • FHF-2 3 4
  • FHF2 3 4
  • FGF2 3

External Ids for FGF13 Gene

Previous GeneCards Identifiers for FGF13 Gene

  • GC0XM132285
  • GC0XM134559
  • GC0XM135658
  • GC0XM136419
  • GC0XM137439
  • GC0XM137541
  • GC0XM137713
  • GC0XM126980

Summaries for FGF13 Gene

Entrez Gene Summary for FGF13 Gene

  • 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]

CIViC summary for FGF13 Gene

GeneCards Summary for FGF13 Gene

FGF13 (Fibroblast Growth Factor 13) is a Protein Coding gene. Diseases associated with FGF13 include X-Linked Congenital Generalized Hypertrichosis and Borjeson-Forssman-Lehmann Syndrome. Among its related pathways are GPCR Pathway and Phospholipase-C Pathway. GO annotations related to this gene include microtubule binding and ion channel binding. An important paralog of this gene is FGF14.

UniProtKB/Swiss-Prot for FGF13 Gene

  • Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules. Through its action on microtubules, may participate to the refinement of axons by negatively regulating axonal and leading processes branching. Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus.

  • May regulate voltage-gated sodium channels transport and function.

  • May also play a role in MAPK signaling.

Gene Wiki entry for FGF13 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGF13 Gene

Genomics for FGF13 Gene

Regulatory Elements for FGF13 Gene

Enhancers for FGF13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG139200 0.7 ENCODE 13.2 +21.9 21866 0.1 INSM2 ZNF175 FEZF1 ZNF644 CTBP1 SCRT2 FOS DPF2 KLF4 ZNF843 FGF13 PIR48066
GH0XG139553 0.7 Ensembl 4 -331.0 -331012 1.0 MTA2 JUNB TBX21 GABPA SP1 IKZF1 EED ETV6 CREM IKZF2 FGF13 F9 GC0XM139607
GH0XG139213 1.3 FANTOM5 ENCODE 0.4 +9.3 9319 0.2 PKNOX1 ATF1 ARNT TCF12 ZNF766 ELK1 GATA2 NCOA1 SMARCB1 ZNF592 FGF13 PIR48066
GH0XG139194 1.4 FANTOM5 Ensembl ENCODE 0.3 +28.0 27969 1.0 SUZ12 ARNT NFRKB RBBP5 YY1 ZNF766 POLR2A EZH2 ZNF639 PHF8 FGF13 PIR48066
GH0XG139203 0.9 ENCODE 0.4 +18.2 18163 2.1 TBP ATF1 ZSCAN4 KLF17 ZNF2 GLIS2 ZNF366 FOS EGR2 ZEB2 FGF13 PIR48066
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FGF13 on UCSC Golden Path with GeneCards custom track

Genomic Location for FGF13 Gene

Chromosome:
X
Start:
138,614,731 bp from pter
End:
139,222,889 bp from pter
Size:
608,159 bases
Orientation:
Minus strand

Genomic View for FGF13 Gene

Genes around FGF13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGF13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGF13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGF13 Gene

Proteins for FGF13 Gene

  • Protein details for FGF13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92913-FGF13_HUMAN
    Recommended name:
    Fibroblast growth factor 13
    Protein Accession:
    Q92913
    Secondary Accessions:
    • B1AK18
    • B7Z4M7
    • B7Z8N0
    • D3DWH4
    • O95830
    • Q9NZH9
    • Q9NZI0

    Protein attributes for FGF13 Gene

    Size:
    245 amino acids
    Molecular mass:
    27564 Da
    Quaternary structure:
    • Interacts with SCN8A; may regulate SCN8A activity. Interacts with SCN1A; may regulate SCN1A activity. Interacts with SCN5A; the interaction is direct and may regulate SNC5A density at membranes and function. May also interact with SCN2A and SCN11A. Interacts with MAPK8IP2; may regulate the MAPK8IP2 scaffolding activity.

    Three dimensional structures from OCA and Proteopedia for FGF13 Gene

    Alternative splice isoforms for FGF13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FGF13 Gene

Post-translational modifications for FGF13 Gene

Antibody Products

  • Abcam antibodies for FGF13

Assay Products

No data available for DME Specific Peptides for FGF13 Gene

Domains & Families for FGF13 Gene

Graphical View of Domain Structure for InterPro Entry

Q92913

UniProtKB/Swiss-Prot:

FGF13_HUMAN :
  • Belongs to the heparin-binding growth factors family.
Family:
  • Belongs to the heparin-binding growth factors family.
genes like me logo Genes that share domains with FGF13: view

No data available for Gene Families for FGF13 Gene

Function for FGF13 Gene

Molecular function for FGF13 Gene

GENATLAS Biochemistry:
fibroblast growth homologous factor 13,expressed principally in the nervous system and skeletal muscle with two alternatively spliced isoforms
UniProtKB/Swiss-Prot Function:
Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules. Through its action on microtubules, may participate to the refinement of axons by negatively regulating axonal and leading processes branching. Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus.
UniProtKB/Swiss-Prot Function:
May regulate voltage-gated sodium channels transport and function.
UniProtKB/Swiss-Prot Function:
May also play a role in MAPK signaling.

Gene Ontology (GO) - Molecular Function for FGF13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15282281
GO:0008017 microtubule binding ISS,IEA --
GO:0008083 growth factor activity IEA --
GO:0017080 sodium channel regulator activity ISS 21817159
GO:0030295 protein kinase activator activity IGI 12244047
genes like me logo Genes that share ontologies with FGF13: view
genes like me logo Genes that share phenotypes with FGF13: view

Animal Models for FGF13 Gene

MGI Knock Outs for FGF13:

Animal Model Products

  • Taconic Biosciences Mouse Models for FGF13

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FGF13 Gene

Localization for FGF13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGF13 Gene

Cell projection, filopodium. Cell projection, growth cone. Cell projection, dendrite. Nucleus. Cytoplasm. Note=Not secreted. {ECO:0000250}.
Isoform 1: Nucleus, nucleolus.
Isoform 2: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGF13 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 4
mitochondrion 3

Gene Ontology (GO) - Cellular Components for FGF13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus ISS,IDA 21817159
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm ISS 21817159
GO:0005829 cytosol IEA,IDA --
genes like me logo Genes that share ontologies with FGF13: view

Pathways & Interactions for FGF13 Gene

genes like me logo Genes that share pathways with FGF13: view

Interacting Proteins for FGF13 Gene

Selected Interacting proteins: Q92913-FGF13_HUMAN for FGF13 Gene via IID

Gene Ontology (GO) - Biological Process for FGF13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IDA 12244047
GO:0001764 neuron migration ISS --
GO:0006814 sodium ion transport ISS 21817159
GO:0007026 negative regulation of microtubule depolymerization ISS,IEA --
GO:0007165 signal transduction TAS 8790420
genes like me logo Genes that share ontologies with FGF13: view

No data available for SIGNOR curated interactions for FGF13 Gene

Drugs & Compounds for FGF13 Gene

No Compound Related Data Available

Transcripts for FGF13 Gene

Unigene Clusters for FGF13 Gene

Fibroblast growth factor 13:
Representative Sequences:

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGF13 Gene

No ASD Table

Relevant External Links for FGF13 Gene

GeneLoc Exon Structure for
FGF13
ECgene alternative splicing isoforms for
FGF13

Expression for FGF13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FGF13 Gene

mRNA differential expression in normal tissues according to GTEx for FGF13 Gene

This gene is overexpressed in Brain - Hippocampus (x6.0), Brain - Amygdala (x4.7), Brain - Anterior cingulate cortex (BA24) (x4.5), and Brain - Nucleus accumbens (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for FGF13 Gene

This gene is overexpressed in Plasma (49.8) and Fetal Brain (17.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FGF13 Gene



Protein tissue co-expression partners for FGF13 Gene

NURSA nuclear receptor signaling pathways regulating expression of FGF13 Gene:

FGF13

SOURCE GeneReport for Unigene cluster for FGF13 Gene:

Hs.6540

mRNA Expression by UniProt/SwissProt for FGF13 Gene:

Q92913-FGF13_HUMAN
Tissue specificity: Ubiquitously expressed. Predominantly expressed in the nervous system.

Evidence on tissue expression from TISSUES for FGF13 Gene

  • Nervous system(4.9)
  • Eye(4.5)
  • Kidney(4.4)
  • Skin(4.4)
  • Lung(4.3)
  • Muscle(2.6)
  • Heart(2.5)
  • Bone marrow(2.4)
  • Bone(2.3)
genes like me logo Genes that share expression patterns with FGF13: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FGF13 Gene

Orthologs for FGF13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FGF13 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia FGF13 34 35
  • 95.51 (n)
mouse
(Mus musculus)
Mammalia Fgf13 34 16 35
  • 95.51 (n)
rat
(Rattus norvegicus)
Mammalia Fgf13 34
  • 94.9 (n)
oppossum
(Monodelphis domestica)
Mammalia FGF13 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC492174 34
  • 93.61 (n)
FGF13 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FGF13 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves FGF13 34 35
  • 83.61 (n)
lizard
(Anolis carolinensis)
Reptilia FGF13 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgf13 34
  • 79.96 (n)
Str.13293 34
zebrafish
(Danio rerio)
Actinopterygii fgf13a 34 35
  • 80.33 (n)
Species where no ortholog for FGF13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FGF13 Gene

ENSEMBL:
Gene Tree for FGF13 (if available)
TreeFam:
Gene Tree for FGF13 (if available)

Paralogs for FGF13 Gene

Paralogs for FGF13 Gene

genes like me logo Genes that share paralogs with FGF13: view

Variants for FGF13 Gene

Sequence variations from dbSNP and Humsavar for FGF13 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000001563 -- 138,982,222(+) TTCAG(A/G)GATAT intron-variant
rs1000002663 -- 139,039,832(+) ATGGC(A/T)TCCCA intron-variant
rs1000012469 -- 138,993,556(+) CAAAC(A/C/T)TAAAC intron-variant
rs1000030690 -- 139,166,582(+) GGGCA(A/G)AATTC intron-variant
rs1000032583 -- 139,043,280(+) AATCT(C/T)GGCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FGF13 Gene

Variant ID Type Subtype PubMed ID
dgv2485e212 CNV loss 25503493
dgv2486e212 CNV loss 25503493
dgv2487e212 CNV loss 25503493
esv1007548 CNV deletion 20482838
esv2385287 CNV deletion 18987734
esv2477107 CNV deletion 19546169
esv2623043 CNV deletion 19546169
esv2667866 CNV deletion 23128226
esv2675863 CNV deletion 23128226
esv2740505 CNV deletion 23290073
esv2740507 CNV deletion 23290073
esv2740508 CNV deletion 23290073
esv2740509 CNV deletion 23290073
esv2740510 CNV deletion 23290073
esv2871 CNV loss 18987735
esv3302950 CNV tandem duplication 20981092
esv3345728 CNV insertion 20981092
esv3559384 CNV deletion 23714750
esv3559385 CNV deletion 23714750
esv3559386 CNV deletion 23714750
esv3559387 CNV deletion 23714750
esv3559389 CNV deletion 23714750
esv3574774 CNV loss 25503493
esv3574776 CNV loss 25503493
esv3574777 CNV loss 25503493
esv3574780 CNV loss 25503493
esv3574794 CNV loss 25503493
esv3577423 CNV gain 25503493
esv3577424 CNV gain 25503493
esv3577425 CNV gain 25503493
esv8695 CNV loss 19470904
nsv1140070 CNV duplication 24896259
nsv1141083 CNV deletion 24896259
nsv1141084 CNV deletion 24896259
nsv1147814 CNV deletion 26484159
nsv1151407 CNV duplication 26484159
nsv510563 OTHER sequence alteration 20534489
nsv523403 CNV gain 19592680
nsv524567 CNV gain 19592680
nsv525867 CNV gain 19592680
nsv7115 CNV insertion 18451855
nsv957795 CNV deletion 24416366

Variation tolerance for FGF13 Gene

Residual Variation Intolerance Score: 46.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.03; 0.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FGF13 Gene

Human Gene Mutation Database (HGMD)
FGF13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGF13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF13 Gene

Disorders for FGF13 Gene

MalaCards: The human disease database

(11) MalaCards diseases for FGF13 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
x-linked congenital generalized hypertrichosis
  • cgh
borjeson-forssman-lehmann syndrome
  • bfls
wildervanck syndrome
  • cervico-oculo-acoustic dysplasia
clivus chordoma
  • chordoma of clivus
diffuse glomerulonephritis
  • glomerulonephritis diffuse
- elite association - COSMIC cancer census association via MalaCards
Search FGF13 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FGF13

Genetic Association Database (GAD)
FGF13
Human Genome Epidemiology (HuGE) Navigator
FGF13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FGF13
genes like me logo Genes that share disorders with FGF13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FGF13 Gene

Publications for FGF13 Gene

  1. Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. (PMID: 10071193) Gecz J. … Mulley J.C. (Hum. Genet. 1999) 3 4 22 64
  2. Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development. (PMID: 8790420) Smallwood P.M. … Nathans J. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 64
  3. Fibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine hearts. (PMID: 21817159) Wang C. … Pitt G.S. (Circ. Res. 2011) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons. (PMID: 15282281) Wittmack E.K. … Dib-Hajj S.D. (J. Neurosci. 2004) 3 4 64

Products for FGF13 Gene

Sources for FGF13 Gene

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