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
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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

Further reading

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