Protein:FGF13 |
Protein Summary |
 Gene summary |
| Gene name: FGF13 | ASpdb.0 ID: 2258 | Gene | Gene symbol | FGF13 | Gene ID | 2258 |
| Gene name | fibroblast growth factor 13 |
| Synonyms | DEE90|FGF-13|FGF2|FHF-2|FHF2|LINC00889|XLID110 |
| Cytomap | Xq26.3-q27.1 |
| Type of gene | protein-coding |
| Description | fibroblast growth factor 13fibroblast growth factor homologous factor 2 |
| Modification date | 20240323 |
| UniProtAcc | Q92913 |
| Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Gene | FGF13 | GO:0000165 | MAPK cascade | 12244047 |
| Gene | FGF13 | GO:0005634 | nucleus | 8790420 |
| Gene | FGF13 | GO:0005829 | cytosol | - |
| Gene | FGF13 | GO:0017080 | sodium channel regulator activity | 15282281|36696443 |
| Gene | FGF13 | GO:1905152 | positive regulation of voltage-gated sodium channel activity | 36696443 |
AS Summary |
| Information of the canonical protein with experimentally identified structure from PDB (2023). |
| UniProt Acc | File name | PDB ID | Method | Resolution | Chain | Start | End |
| Q92913-1 | Q92913-1_3hbw_A.pdb | 3HBW | X-ray | 1.9 | A | 64 | 212 |
| ASpdb's canonical and alternatively spliced isoform information. |
| accession_id | gene_name | canonical_id | alternative_id | canonical_length | alternative_length | canonical_start | canonical_end | type | originalSEQ | variationSEQ | alternative_start | alternative_end |
| Q92913 | FGF13 | Q92913-1 | Q92913-2 | 245 | 192 | 1 | 62 | Substitution | MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRRRP | MALLRKSYS | 1 | 9 |
| Q92913 | FGF13 | Q92913-1 | Q92913-3 | 245 | 255 | 1 | 62 | Substitution | MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRRRP | MSGKVTKPKEEKDASKVLDDAPPGTQEYIMLRQDSIQSAELKKKESPFRAKCHEIFCCPLKQVHHKENTEPE | 1 | 72 |
| Q92913 | FGF13 | Q92913-1 | Q92913-4 | 245 | 199 | 1 | 62 | Substitution | MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRRRP | MSGKVTKPKEEKDASK | 1 | 16 |
| Q92913 | FGF13 | Q92913-1 | Q92913-5 | 245 | 226 | 1 | 62 | Substitution | MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRRRP | MLRQDSIQSAELKKKESPFRAKCHEIFCCPLKQVHHKENTEPE | 1 | 43 |
| Multiple sequence alignment of our canonical and alternatively spliced FGF13 |
| Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of FGF13 |
| UniProt-id | ENSG | ENST | ENSP |
| Q92913-1 | ENSG00000129682.16 | ENST00000315930.11 | ENSP00000322390.6 |
| Q92913-2 | ENSG00000129682.16 | ENST00000305414.9 | ENSP00000303391.4 |
| Q92913-3 | ENSG00000129682.16 | ENST00000436198.6 | ENSP00000396198.2 |
| Q92913-4 | ENSG00000129682.16 | ENST00000626909.2 | ENSP00000487411.1 |
| Q92913-5 | ENSG00000129682.16 | ENST00000441825.8 | ENSP00000409276.2 |
| UniProt-id | NM ID | NP ID |
| Q92913-1 | NM_004114.3 | NP_004105.1 |
| Q92913-2 | NM_033642.2 | NP_378668.1 |
| Q92913-3 | NM_001139500.1 | NP_001132972.1 |
| Q92913-4 | NM_001139498.1 | NP_001132970.1 |
| Q92913-5 | NM_001139501.1 | NP_001132973.1 |
| Q92913-5 | NM_001139502.1 | NP_001132974.1 |
| Amino acid sequences of our canonical and alternatively spliced FGF13 |
| accession_id | Protein sequence |
| Q92913-1 | MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRRRPEPQLKGIVTKLYSRQGYHLQLQADGTID GTKDEDSTYTLFNLIPVGLRVVAIQGVQTKLYLAMNSEGYLYTSELFTPECKFKESVFENYYVTYSSMIYRQQQSGRGWYLGLNKEGEIM |
| Q92913-2 | MALLRKSYSEPQLKGIVTKLYSRQGYHLQLQADGTIDGTKDEDSTYTLFNLIPVGLRVVAIQGVQTKLYLAMNSEGYLYTSELFTPECKF KESVFENYYVTYSSMIYRQQQSGRGWYLGLNKEGEIMKGNHVKKNKPAAHFLPKPLKVAMYKEPSLHDLTEFSRSGSGTPTKSRSVSGVL |
| Q92913-3 | MSGKVTKPKEEKDASKVLDDAPPGTQEYIMLRQDSIQSAELKKKESPFRAKCHEIFCCPLKQVHHKENTEPEEPQLKGIVTKLYSRQGYH LQLQADGTIDGTKDEDSTYTLFNLIPVGLRVVAIQGVQTKLYLAMNSEGYLYTSELFTPECKFKESVFENYYVTYSSMIYRQQQSGRGWY |
| Q92913-4 | MSGKVTKPKEEKDASKEPQLKGIVTKLYSRQGYHLQLQADGTIDGTKDEDSTYTLFNLIPVGLRVVAIQGVQTKLYLAMNSEGYLYTSEL FTPECKFKESVFENYYVTYSSMIYRQQQSGRGWYLGLNKEGEIMKGNHVKKNKPAAHFLPKPLKVAMYKEPSLHDLTEFSRSGSGTPTKS |
| Q92913-5 | MLRQDSIQSAELKKKESPFRAKCHEIFCCPLKQVHHKENTEPEEPQLKGIVTKLYSRQGYHLQLQADGTIDGTKDEDSTYTLFNLIPVGL RVVAIQGVQTKLYLAMNSEGYLYTSELFTPECKFKESVFENYYVTYSSMIYRQQQSGRGWYLGLNKEGEIMKGNHVKKNKPAAHFLPKPL |
Protein Functional Features |
| Main function of this protein. (from UniProt) |
| FGF13 (go to UniProt):Q92913 |
| Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained protein feature among the 13 regional features. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| Q92913 | Region | 1 | 62 | Note=Mediates targeting to the nucleus;Ontology_term=ECO:0000250;evidence=ECO:0000250 | Type=Substitution;Start=1;End=62 |
| Q92913 | Region | 1 | 62 | Note=Mediates targeting to the nucleus;Ontology_term=ECO:0000250;evidence=ECO:0000250 | Type=Substitution;Start=1;End=62 |
| Q92913 | Region | 1 | 62 | Note=Mediates targeting to the nucleus;Ontology_term=ECO:0000250;evidence=ECO:0000250 | Type=Substitution;Start=1;End=62 |
| Q92913 | Region | 1 | 62 | Note=Mediates targeting to the nucleus;Ontology_term=ECO:0000250;evidence=ECO:0000250 | Type=Substitution;Start=1;End=62 |
| Q92913 | Region | 1 | 36 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=1;End=62 |
| Q92913 | Region | 1 | 36 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=1;End=62 |
| Q92913 | Region | 1 | 36 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=1;End=62 |
| Q92913 | Region | 1 | 36 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=1;End=62 |
Gene Isoform Structures and Expression Levels for FGF13 |
| Gene structures of our canonical and alternative spliced genes of FGF13 * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Expression levels of gene isoforms across GTEx. |
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| Expression levels of gene isoforms across TCGA. |
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Protein Structures |
| PDB and CIF files of the predicted protein structures * Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
| 3D view using mol* of Q92913-1 |
| 3D view using mol* of Q92913-2 |
| 3D view using mol* of Q92913-3 |
| 3D view using mol* of Q92913-4 |
| 3D view using mol* of Q92913-5 |
pLDDT Score Distribution |
| pLDDT score distribution of the predicted protein structures from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
| pLDDT distribution across the protein length of Q92913-1 |
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| pLDDT distribution across the protein length of Q92913-2 |
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| pLDDT distribution across the protein length of Q92913-3 |
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| pLDDT distribution across the protein length of Q92913-4 |
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| pLDDT distribution across the protein length of Q92913-5 |
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Ramachandran Plot of Protein Structures |
| Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide. |
| Ramachandran plot of Q92913-1 |
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| Ramachandran plot of Q92913-2 |
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| Ramachandran plot of Q92913-3 |
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| Ramachandran plot of Q92913-4 |
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| Ramachandran plot of Q92913-5 |
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Potential Active Site Information |
| The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite. |
| UniProt-id | Site score | Size | D score | Volume | Exposure | Enclosure | Contact | Phobic | Philic | Balance | Don/Acc | Residues |
| Q92913-1 | 0.425 | 15 | 0.26 | 29.498 | 0.758 | 0.511 | 0.668 | 0 | 1.259 | 0 | 1.149 | 107,137,142,206,207,208,209
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| Q92913-2 | 0.586 | 15 | 0.552 | 85.064 | 0.826 | 0.608 | 0.679 | 0.849 | 0.541 | 1.569 | 3.938 | 14,15,16,51,53,59,92,143
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| Q92913-3 | 0.991 | 122 | 1.036 | 208.201 | 0.529 | 0.638 | 0.859 | 0.708 | 0.881 | 0.803 | 0.553 | 32,35,36,38,39,40,41,42,43,74,75,76,77,116,117,118 ,119,120,147,152,213,216,217,218,219 |
| Q92913-4 | 0.382 | 13 | 0.28 | 30.87 | 0.812 | 0.475 | 0.583 | 0.042 | 1.055 | 0.04 | 1.584 | 61,91,96,160,161,162,163
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| Q92913-5 | 0.606 | 16 | 0.587 | 65.513 | 0.832 | 0.597 | 0.624 | 1 | 0.451 | 2.216 | 4.22 | 49,50,85,87,91,93,126,134,136,177
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Protein Structure and Feature Comparision |
| Protein Structure Comparision Using Template Modeling Scores (TM-score). |
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| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green) |
| 3D view using mol* of Q92913-1_Q92913-1_3hbw_A.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of Q92913-1_3hbw_A_Q92913-2.pdb |
| 3D view using mol* of Q92913-1_3hbw_A_Q92913-3.pdb |
| 3D view using mol* of Q92913-1_3hbw_A_Q92913-4.pdb |
| 3D view using mol* of Q92913-1_3hbw_A_Q92913-5.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of Q92913-1_Q92913-2.pdb |
| 3D view using mol* of Q92913-1_Q92913-3.pdb |
| 3D view using mol* of Q92913-1_Q92913-4.pdb |
| 3D view using mol* of Q92913-1_Q92913-5.pdb |
| Protein Feature Comparison of the protein sequendary structures among the protiens. |
| ./stats/secondary_structure/figure/Q92913-1_vs_Q92913-2.png |
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| ./stats/secondary_structure/figure/Q92913-1_vs_Q92913-3.png |
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| ./stats/secondary_structure/figure/Q92913-1_vs_Q92913-4.png |
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| ./stats/secondary_structure/figure/Q92913-1_vs_Q92913-5.png |
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| Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens. |
| ./stats/relative_asa/Q92913-1_vs_Q92913-2.png |
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| ./stats/relative_asa/Q92913-1_vs_Q92913-3.png |
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| ./stats/relative_asa/Q92913-1_vs_Q92913-4.png |
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| ./stats/relative_asa/Q92913-1_vs_Q92913-5.png |
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Protein-Protein Interaction |
| Interactors from UniProt. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| Interactors from STRING. |
| Gene name | Interactors |
Related Drugs to FGF13 |
| Drugs targeting this gene/protein. (DrugBank) |
| UniProt accession | Gene name | DrugBank ID | Drug name | Drug group | Actions |
Related Diseases to FGF13 |
| Previous studies relating to the alternative splicing of FGF13 and disease information from the MeSH term (PubMed) |
| Gene | PMID | Title | Abstract | MeSH ID | MeSH term |
| FGF13 | 9847253 | Expression of chicken fibroblast growth factor homologous factor (FHF)-1 and of differentially spliced isoforms of FHF-2 during development and involvement of FHF-2 in chicken limb development. | Members of the fibroblast growth factor (FGF) family have been identified as signaling molecules in a variety of developmental processes, including important roles in limb bud initiation, growth and patterning. This paper reports the cloning and characterization of the chicken orthologues of fibroblast growth factor homologous factors-1 and -2 (cFHF-1/cFGF-12 and cFHF-2/cFGF-13, respectively). We also describe the identification of a novel, conserved isoform of FHF-2 in chickens and mammals. This isoform arises by alternative splicing of the first exon of the FHF-2 gene and is predicted to encode a polypeptide with a distinct amino-terminus. Whole-mount in situ hybridization reveals restricted domains of expression of cFHF-1 and cFHF-2 in the developing neural tube, peripheral sensory ganglia and limb buds, and shows that the two cFHF-2 transcript isoforms are present in non-overlapping spatial distributions in the neural tube and adjacent structures. In the developing limbs, cFHF-1 is confined to the posterior mesoderm in an area that encompasses the zone of polarizing activity and cFHF-2 is confined to the distal anterior mesoderm in a region that largely overlaps the progress zone. Ectopic cFHF-2 expression is induced adjacent to grafts of cells expressing Sonic Hedgehog and the zone of cFHF-2 expression is expanded in talpid2 embryos. In the absence of the apical ectodermal ridge or in wingless or limbless mutant embryos, expression of cFHF-1 and cFHF-2 is lost from the limb bud. A role for cFHF-2 in the patterning and growth of skeletal elements is implied by the observation that engraftment of developing limb buds with QT6 cells expressing a cFHF-2 isoform that is normally expressed in the limb leads to a variety of morphological defects. Finally, we show that a secreted version of cFHF-2 activates the expression of HoxD13, HoxD11, Fgf-4 and BMP-2 ectopically, consistent with cFHF-2 playing a role in anterior-posterior patterning of the limb. | D017880 | Limb Deformities, Congenital |
| FGF13 | 10071193 | 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. | Börjeson-Forssman-Lehmann syndrome (BFLS) is a syndromal X-linked mental retardation, which maps by linkage to the q26 region of the human X chromosome. We have identified a male patient with BFLS-like features and a duplication, 46,Y,dup(X)(q26q28), inherited from his phenotypically normal mother. Fluorescence in situ hybridisation using yeast artificial chromosome clones from Xq26 localised the duplication breakpoint to an approximately 400-kb interval in the Xq26.3 region between DXS155 and DXS294/DXS730. Database searches and analysis of available genomic DNA sequence from the region revealed the presence of the fibroblast growth factor homologous factor gene, FHF2, within the duplication breakpoint interval. The gene structure of FHF2 was determined and two new exons were identified, including a new 5' end exon, 1B. FHF2 is a large gene extending over approximately 200 kb in Xq26.3 and is composed of at least seven exons. It shows tissue-specific alternative splicing and alternative transcription starts. Northern blot hybridisation showed highest expression in brain and skeletal muscle. The FHF2 gene localisation and tissue-specific expression pattern suggest it to be a candidate gene for familial cases of the BFLS syndrome and other syndromal and non-specific forms of X-linked mental retardation mapping to the region. | D019457 | Chromosome Breakage |
| FGF13 | 10071193 | 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. | Börjeson-Forssman-Lehmann syndrome (BFLS) is a syndromal X-linked mental retardation, which maps by linkage to the q26 region of the human X chromosome. We have identified a male patient with BFLS-like features and a duplication, 46,Y,dup(X)(q26q28), inherited from his phenotypically normal mother. Fluorescence in situ hybridisation using yeast artificial chromosome clones from Xq26 localised the duplication breakpoint to an approximately 400-kb interval in the Xq26.3 region between DXS155 and DXS294/DXS730. Database searches and analysis of available genomic DNA sequence from the region revealed the presence of the fibroblast growth factor homologous factor gene, FHF2, within the duplication breakpoint interval. The gene structure of FHF2 was determined and two new exons were identified, including a new 5' end exon, 1B. FHF2 is a large gene extending over approximately 200 kb in Xq26.3 and is composed of at least seven exons. It shows tissue-specific alternative splicing and alternative transcription starts. Northern blot hybridisation showed highest expression in brain and skeletal muscle. The FHF2 gene localisation and tissue-specific expression pattern suggest it to be a candidate gene for familial cases of the BFLS syndrome and other syndromal and non-specific forms of X-linked mental retardation mapping to the region. | D008607 | Intellectual Disability |
| FGF13 | 10071193 | 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. | Börjeson-Forssman-Lehmann syndrome (BFLS) is a syndromal X-linked mental retardation, which maps by linkage to the q26 region of the human X chromosome. We have identified a male patient with BFLS-like features and a duplication, 46,Y,dup(X)(q26q28), inherited from his phenotypically normal mother. Fluorescence in situ hybridisation using yeast artificial chromosome clones from Xq26 localised the duplication breakpoint to an approximately 400-kb interval in the Xq26.3 region between DXS155 and DXS294/DXS730. Database searches and analysis of available genomic DNA sequence from the region revealed the presence of the fibroblast growth factor homologous factor gene, FHF2, within the duplication breakpoint interval. The gene structure of FHF2 was determined and two new exons were identified, including a new 5' end exon, 1B. FHF2 is a large gene extending over approximately 200 kb in Xq26.3 and is composed of at least seven exons. It shows tissue-specific alternative splicing and alternative transcription starts. Northern blot hybridisation showed highest expression in brain and skeletal muscle. The FHF2 gene localisation and tissue-specific expression pattern suggest it to be a candidate gene for familial cases of the BFLS syndrome and other syndromal and non-specific forms of X-linked mental retardation mapping to the region. | D013577 | Syndrome |
Clinically important variants in FGF13 |
| (ClinVar, 04/20/2024) |
| accession_id | uniprot_id | gene_name | Type | Variant | Clinical_significance |
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