Human Gene FGF13 (ENST00000315930.11_14) from GENCODE V47lift37
  Description: fibroblast growth factor 13, transcript variant 1 (from RefSeq NM_004114.5)
Gencode Transcript: ENST00000315930.11_14
Gencode Gene: ENSG00000129682.16_15
Transcript (Including UTRs)
   Position: hg19 chrX:137,696,888-137,793,879 Size: 96,992 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chrX:137,715,011-137,793,165 Size: 78,155 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:137,696,888-137,793,879)mRNA (may differ from genome)Protein (245 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FGF13_HUMAN
DESCRIPTION: RecName: Full=Fibroblast growth factor 13; Short=FGF-13; AltName: Full=Fibroblast growth factor homologous factor 2; Short=FHF-2;
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.
FUNCTION: May regulate voltage-gated sodium channels transport and function.
FUNCTION: May also play a role in MAPK signaling.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Cell projection, filopodium (By similarity). Cell projection, growth cone (By similarity). Cell projection, dendrite (By similarity). Nucleus. Cytoplasm. Note=Not secreted (By similarity).
SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleolus.
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Ubiquitously expressed. Predominantly expressed in the nervous system.
PTM: May be phosphorylated (By similarity).
SIMILARITY: Belongs to the heparin-binding growth factors family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgf13/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FGF13
Diseases sorted by gene-association score: x-linked congenital generalized hypertrichosis (18), wildervanck syndrome (18), borjeson-forssman-lehmann syndrome (11), spastic paraplegia 25, autosomal recessive (9), clivus chordoma (9), diffuse glomerulonephritis (8), thanatophoric dysplasia, type i (5), disuse amblyopia (5), crouzon syndrome (4), muenke syndrome (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.77 RPKM in Brain - Hippocampus
Total median expression: 243.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -336.90714-0.472 Picture PostScript Text
3' UTR -5044.4418123-0.278 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008996 - Cytokine_IL1-like
IPR002209 - GF_heparin-bd
IPR002348 - IL1_HBGF

Pfam Domains:
PF00167 - Fibroblast growth factor

SCOP Domains:
50353 - Cytokine
50405 - Actin-crosslinking proteins

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3HBW - X-ray MuPIT 4DCK - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q92913
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0008083 growth factor activity
GO:0017080 sodium channel regulator activity
GO:0030295 protein kinase activator activity
GO:0044325 ion channel binding
GO:0048487 beta-tubulin binding

Biological Process:
GO:0000165 MAPK cascade
GO:0001764 neuron migration
GO:0006814 sodium ion transport
GO:0007026 negative regulation of microtubule depolymerization
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0007399 nervous system development
GO:0007612 learning
GO:0007613 memory
GO:0010469 regulation of receptor activity
GO:0021766 hippocampus development
GO:0021795 cerebral cortex cell migration
GO:0032147 activation of protein kinase activity
GO:0045200 establishment of neuroblast polarity
GO:0046785 microtubule polymerization
GO:0048671 negative regulation of collateral sprouting
GO:0072659 protein localization to plasma membrane
GO:0098909 regulation of cardiac muscle cell action potential involved in regulation of contraction
GO:1990834 response to odorant

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0014704 intercalated disc
GO:0016328 lateral plasma membrane
GO:0030175 filopodium
GO:0030424 axon
GO:0030425 dendrite
GO:0030426 growth cone
GO:0042995 cell projection
GO:0043005 neuron projection


-  Descriptions from all associated GenBank mRNAs
  BC034340 - Homo sapiens fibroblast growth factor 13, mRNA (cDNA clone MGC:9080 IMAGE:3918908), complete cds.
BC012347 - Homo sapiens fibroblast growth factor 13, mRNA (cDNA clone MGC:20109 IMAGE:4551396), complete cds.
AF100143 - Homo sapiens fibroblast growth factor 13 isoform 1A (FGF13) mRNA, complete cds.
AF100144 - Homo sapiens fibroblast growth factor 13 isoform 1B (FGF13) mRNA, complete cds.
AK289960 - Homo sapiens cDNA FLJ76228 complete cds, highly similar to Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1A, mRNA.
AK316170 - Homo sapiens cDNA, FLJ79069 complete cds, highly similar to Fibroblast growth factor 13.
AK303685 - Homo sapiens cDNA FLJ57068 complete cds, highly similar to Fibroblast growth factor 13.
AK297545 - Homo sapiens cDNA FLJ57884 complete cds, highly similar to Fibroblast growth factor 13.
KJ891165 - Synthetic construct Homo sapiens clone ccsbBroadEn_00559 FGF13 gene, encodes complete protein.
U66198 - Human fibroblast growth factor homologous factor 2 (FHF-2) mRNA, complete cds.
DQ892535 - Synthetic construct clone IMAGE:100005165; FLH187249.01X; RZPDo839F0472D fibroblast growth factor 13 (FGF13) gene, encodes complete protein.
DQ895746 - Synthetic construct Homo sapiens clone IMAGE:100010206; FLH187245.01L; RZPDo839F0462D fibroblast growth factor 13 (FGF13) gene, encodes complete protein.
AB528524 - Synthetic construct DNA, clone: pF1KB5482, Homo sapiens FGF13 gene for fibroblast growth factor 13, without stop codon, in Flexi system.
AK055234 - Homo sapiens cDNA FLJ30672 fis, clone FCBBF1000691.
AK055382 - Homo sapiens cDNA FLJ30820 fis, clone FEBRA2001591.
JD094957 - Sequence 75981 from Patent EP1572962.
JD561806 - Sequence 542830 from Patent EP1572962.
JD110591 - Sequence 91615 from Patent EP1572962.
JD098996 - Sequence 80020 from Patent EP1572962.
JD349621 - Sequence 330645 from Patent EP1572962.
JD040468 - Sequence 21492 from Patent EP1572962.
JD509078 - Sequence 490102 from Patent EP1572962.
JD137406 - Sequence 118430 from Patent EP1572962.
JD516664 - Sequence 497688 from Patent EP1572962.
BC105719 - Homo sapiens cDNA clone IMAGE:40025269.
BC105725 - Homo sapiens cDNA clone IMAGE:40025267.
BC105726 - Homo sapiens cDNA clone IMAGE:40025268.
BC105727 - Homo sapiens cDNA clone IMAGE:40025266.
BC139831 - Homo sapiens cDNA clone IMAGE:40025270.
JD039373 - Sequence 20397 from Patent EP1572962.
JD398176 - Sequence 379200 from Patent EP1572962.
JD283696 - Sequence 264720 from Patent EP1572962.
JD565665 - Sequence 546689 from Patent EP1572962.
JD495746 - Sequence 476770 from Patent EP1572962.
JD273984 - Sequence 255008 from Patent EP1572962.
JD479690 - Sequence 460714 from Patent EP1572962.
JD444662 - Sequence 425686 from Patent EP1572962.
JD060477 - Sequence 41501 from Patent EP1572962.
JD369126 - Sequence 350150 from Patent EP1572962.
JD524866 - Sequence 505890 from Patent EP1572962.
JD261273 - Sequence 242297 from Patent EP1572962.
DQ571911 - Homo sapiens piRNA piR-32023, complete sequence.
JD405541 - Sequence 386565 from Patent EP1572962.
JD414697 - Sequence 395721 from Patent EP1572962.
JD488093 - Sequence 469117 from Patent EP1572962.
JD306793 - Sequence 287817 from Patent EP1572962.
JD476672 - Sequence 457696 from Patent EP1572962.
JD379489 - Sequence 360513 from Patent EP1572962.
JD246248 - Sequence 227272 from Patent EP1572962.
JD256512 - Sequence 237536 from Patent EP1572962.
JD120467 - Sequence 101491 from Patent EP1572962.
JD324208 - Sequence 305232 from Patent EP1572962.
JD496491 - Sequence 477515 from Patent EP1572962.
JD196260 - Sequence 177284 from Patent EP1572962.
JD300235 - Sequence 281259 from Patent EP1572962.
JD204091 - Sequence 185115 from Patent EP1572962.
JD369223 - Sequence 350247 from Patent EP1572962.
JD474449 - Sequence 455473 from Patent EP1572962.
JD554002 - Sequence 535026 from Patent EP1572962.
JD198269 - Sequence 179293 from Patent EP1572962.
JD178387 - Sequence 159411 from Patent EP1572962.
JD339494 - Sequence 320518 from Patent EP1572962.
JD462276 - Sequence 443300 from Patent EP1572962.
JD106411 - Sequence 87435 from Patent EP1572962.
JD187437 - Sequence 168461 from Patent EP1572962.
JD049608 - Sequence 30632 from Patent EP1572962.
JD360581 - Sequence 341605 from Patent EP1572962.
JD378402 - Sequence 359426 from Patent EP1572962.
JD417024 - Sequence 398048 from Patent EP1572962.
JD405582 - Sequence 386606 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B1AK18, B7Z4M7, B7Z8N0, D3DWH4, ENST00000315930.1, ENST00000315930.10, ENST00000315930.2, ENST00000315930.3, ENST00000315930.4, ENST00000315930.5, ENST00000315930.6, ENST00000315930.7, ENST00000315930.8, ENST00000315930.9, FGF13 , FGF13_HUMAN, FHF2, NM_004114, O95830, Q92913, Q9NZH9, Q9NZI0, uc317pxh.1, uc317pxh.2
UCSC ID: ENST00000315930.11_14
RefSeq Accession: NM_004114.5
Protein: Q92913 (aka FGF13_HUMAN or FGFD_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.