FGF13

FGF13
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3HBW, 4DCK, 4JPZ
Identifiers
Aliases	FGF13 , FGF-13, FGF2, FHF-2, FHF2, fibroblast growth factor 13
External IDs	OMIM: 300070 MGI: 109178 HomoloGene: 3036 GeneCards: FGF13
Gene location (Human) Chr. X chromosome (human) [1] Band Xq26.3-q27.1 Start 138,614,727 bp [1] End 139,222,777 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X A6|X 33.31 cM Start 58,107,505 bp [2] End 58,613,431 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell spinal ganglia Region I of hippocampus proper orbitofrontal cortex trigeminal ganglion middle temporal gyrus Brodmann area 46 postcentral gyrus superior frontal gyrus nucleus accumbens Top expressed in ventral tegmental area substantia nigra subiculum medial geniculate nucleus medial dorsal nucleus prefrontal cortex habenula lateral geniculate nucleus dorsomedial hypothalamic nucleus barrel cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein kinase activator activity protein binding growth factor activity microtubule binding sodium channel regulator activity transmembrane transporter binding beta-tubulin binding Cellular component cell projection filopodium growth cone extracellular region dendrite nucleolus microtubule nucleus cytoplasm cytosol plasma membrane intercalated disc lateral plasma membrane axon neuron projection Biological process cell-cell signaling nervous system development MAPK cascade signal transduction neuron migration activation of protein kinase activity establishment of neuroblast polarity negative regulation of collateral sprouting sodium ion transport negative regulation of microtubule depolymerization learning memory hippocampus development cerebral cortex cell migration microtubule polymerization protein localization to plasma membrane regulation of cardiac muscle cell action potential involved in regulation of contraction response to odorant regulation of signaling receptor activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2258 14168 Ensembl ENSG00000129682 ENSMUSG00000031137 UniProt Q92913 P70377 RefSeq (mRNA) NM_001139498 NM_001139500 NM_001139501 NM_001139502 NM_004114 NM_033642 NM_001290414 NM_001290415 NM_010200 NM_001356335 RefSeq (protein) NP_001132970 NP_001132972 NP_001132973 NP_001132974 NP_004105 NP_378668 NP_001277343 NP_001277344 NP_034330 NP_001343264 Location (UCSC) Chr X: 138.61 – 139.22 Mb Chr X: 58.11 – 58.61 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Fibroblast growth factor 13 is a protein that in humans is encoded by the FGF13 gene. ^{[5] [6]}

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, invasion, and neuronal physiology. This gene is located to a region associated with Börjeson-Forssman-Lehmann syndrome (BFLS), a syndromal X-linked intellectual disability, which suggests it may be a candidate gene for familial cases of the BFL syndrome. The function of this gene has not yet been determined. Several alternatively spliced transcripts encoding different isoforms have been described for this gene. ^[6] FGF13 isoform 1 (FGF13A) binds to the leucine-rich repeats of the hominid-specific receptor LRRC37B. ^[7] In human pyramidal neurons of the cerebral cortex, this interaction leads to a lower excitability, ^[7] a divergent cellular property of human pyramidal neurons compared to other mammals. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000129682 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031137 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Smallwood PM, Munoz-Sanjuan I, Tong P, Macke JP, Hendry SH, Gilbert DJ, Copeland NG, Jenkins NA, Nathans J (Oct 1996). "Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development". Proc Natl Acad Sci U S A. 93 (18): 9850–7. Bibcode:1996PNAS...93.9850S. doi: 10.1073/pnas.93.18.9850 . PMC   38518 . PMID   8790420.
6. "Entrez Gene: FGF13 fibroblast growth factor 13".
7. Libé-Philippot B, Lejeune A, Wierda K, Louros N, Erkol E, Vlaeminck I, Beckers S, Gaspariunaite V, Bilheu A, Konstantoulea K, Nyitrai H, De Vleeschouwer M, Vennekens KM, Vidal N, Bird TW (2023-12-21). "LRRC37B is a human modifier of voltage-gated sodium channels and axon excitability in cortical neurons". Cell. 186 (26): 5766–5783.e25. doi: 10.1016/j.cell.2023.11.028 . ISSN   0092-8674. PMC   10754148 . PMID   38134874.

Further reading

• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Wittmack EK, Rush AM, Craner MJ, et al. (2005). "Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons". J. Neurosci. 24 (30): 6765–75. doi: 10.1523/JNEUROSCI.1628-04.2004 . PMC   6729706 . PMID   15282281.
• Popovici C, Conchonaud F, Birnbaum D, Roubin R (2004). "Functional phylogeny relates LET-756 to fibroblast growth factor 9". J. Biol. Chem. 279 (38): 40146–52. doi: 10.1074/jbc.M405795200 . PMID   15199049.
• Facchiano A, Russo K, Facchiano AM, et al. (2003). "Identification of a novel domain of fibroblast growth factor 2 controlling its angiogenic properties" (PDF). J. Biol. Chem. 278 (10): 8751–60. doi: 10.1074/jbc.M209936200 . PMID   12496262.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Schoorlemmer J, Goldfarb M (2003). "Fibroblast growth factor homologous factors and the islet brain-2 scaffold protein regulate activation of a stress-activated protein kinase". J. Biol. Chem. 277 (51): 49111–9. doi: 10.1074/jbc.M205520200 . PMC   4266389 . PMID   12244047.
• Knox S, Merry C, Stringer S, et al. (2002). "Not all perlecans are created equal: interactions with fibroblast growth factor (FGF) 2 and FGF receptors". J. Biol. Chem. 277 (17): 14657–65. doi: 10.1074/jbc.M111826200 . PMID   11847221.
• Munoz-Sanjuan I, Smallwood PM, Nathans J (2000). "Isoform diversity among fibroblast growth factor homologous factors is generated by alternative promoter usage and differential splicing". J. Biol. Chem. 275 (4): 2589–97. doi: 10.1074/jbc.275.4.2589 . PMID   10644718.
• Gecz J, Baker E, Donnelly A, et al. (1999). "Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient". Hum. Genet. 104 (1): 56–63. doi:10.1007/s004390050910. PMID   10071193. S2CID   29716695.
• Yao DL, Masonic K, Petullo D, et al. (1999). "Pretreatment with intravenous FGF-13 reduces infarct volume and ameliorates neurological deficits following focal cerebral ischemia in rats". Brain Res. 818 (1): 140–6. doi:10.1016/S0006-8993(98)01118-4. PMID   9914447. S2CID   23714326.
• Greene JM, Li YL, Yourey PA, et al. (1998). "Identification and characterization of a novel member of the fibroblast growth factor family". Eur. J. Neurosci. 10 (5): 1911–25. doi: 10.1046/j.1460-9568.1998.00211.x . PMID   9751161. S2CID   26104531.