Details for: FGF13

Gene ID: 2258

Symbol: FGF13

Ensembl ID: ENSG00000129682

Description: fibroblast growth factor 13

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 151.4331
    Cell Significance Index: -38.4100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 91.1402
    Cell Significance Index: -37.5500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 74.9487
    Cell Significance Index: -35.3900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 9.2450
    Cell Significance Index: 237.6400
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: 8.9833
    Cell Significance Index: 6.4200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.1719
    Cell Significance Index: -17.8900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 6.4576
    Cell Significance Index: 154.8700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 5.3647
    Cell Significance Index: 329.7400
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 4.4741
    Cell Significance Index: 72.1900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 4.0005
    Cell Significance Index: 97.6100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 3.4015
    Cell Significance Index: 1220.0700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 3.3184
    Cell Significance Index: 186.2100
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: 2.0187
    Cell Significance Index: 16.3000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.9360
    Cell Significance Index: 73.3100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.8111
    Cell Significance Index: 80.1100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.6829
    Cell Significance Index: 36.8500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.5713
    Cell Significance Index: 44.8400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.4575
    Cell Significance Index: 289.2500
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 1.4462
    Cell Significance Index: 18.7600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.4446
    Cell Significance Index: 655.6700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.4221
    Cell Significance Index: 87.1900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.4155
    Cell Significance Index: 95.1800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.3477
    Cell Significance Index: 10.9900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 1.2667
    Cell Significance Index: 15.9500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.6146
    Cell Significance Index: 1157.1400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.5061
    Cell Significance Index: 321.4100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4741
    Cell Significance Index: 90.2300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.3439
    Cell Significance Index: 2.3300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2642
    Cell Significance Index: 11.9800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2092
    Cell Significance Index: 188.9000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1881
    Cell Significance Index: 289.5800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1218
    Cell Significance Index: 5.6800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1194
    Cell Significance Index: 23.9600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.0871
    Cell Significance Index: 9.0700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0785
    Cell Significance Index: 2.7600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0779
    Cell Significance Index: 7.7100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0578
    Cell Significance Index: 106.6600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0298
    Cell Significance Index: 4.8500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0042
    Cell Significance Index: 0.6100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0062
    Cell Significance Index: -8.4000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0151
    Cell Significance Index: -11.1900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0168
    Cell Significance Index: -7.4400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0253
    Cell Significance Index: -15.7900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0399
    Cell Significance Index: -1.1500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0436
    Cell Significance Index: -31.9400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0449
    Cell Significance Index: -25.3400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0505
    Cell Significance Index: -38.1900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0678
    Cell Significance Index: -37.0500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0823
    Cell Significance Index: -14.0600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0918
    Cell Significance Index: -9.9800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0942
    Cell Significance Index: -7.2300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1004
    Cell Significance Index: -21.1500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1080
    Cell Significance Index: -2.7000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1090
    Cell Significance Index: -2.3600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1098
    Cell Significance Index: -31.6000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1102
    Cell Significance Index: -19.8600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1330
    Cell Significance Index: -2.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1422
    Cell Significance Index: -19.5300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1477
    Cell Significance Index: -2.9200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1691
    Cell Significance Index: -3.5900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1794
    Cell Significance Index: -9.4200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1798
    Cell Significance Index: -23.0500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1938
    Cell Significance Index: -2.7800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2082
    Cell Significance Index: -2.8400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2130
    Cell Significance Index: -27.5200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2206
    Cell Significance Index: -27.1300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2228
    Cell Significance Index: -14.0500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2473
    Cell Significance Index: -18.4300
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.2477
    Cell Significance Index: -1.4700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.2523
    Cell Significance Index: -17.4500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2550
    Cell Significance Index: -5.5100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2613
    Cell Significance Index: -26.6900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2763
    Cell Significance Index: -31.5400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2904
    Cell Significance Index: -33.2700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3037
    Cell Significance Index: -35.8100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3117
    Cell Significance Index: -36.3300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.3140
    Cell Significance Index: -18.8500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3541
    Cell Significance Index: -11.3400
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.3672
    Cell Significance Index: -2.2600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3910
    Cell Significance Index: -10.2800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3991
    Cell Significance Index: -4.9500
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.4039
    Cell Significance Index: -4.8300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.4172
    Cell Significance Index: -11.6600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4296
    Cell Significance Index: -20.1900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4356
    Cell Significance Index: -14.2600
  • Cell Name: intratelencephalic-projecting glutamatergic cortical neuron (CL4023008)
    Fold Change: -0.4387
    Cell Significance Index: -4.5100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4506
    Cell Significance Index: -35.6900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5193
    Cell Significance Index: -16.5400
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.5994
    Cell Significance Index: -6.5300
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.6149
    Cell Significance Index: -7.7600
  • Cell Name: granule cell (CL0000120)
    Fold Change: -0.6254
    Cell Significance Index: -7.1200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.6373
    Cell Significance Index: -13.2200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6737
    Cell Significance Index: -23.4100
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.6825
    Cell Significance Index: -4.4400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.6875
    Cell Significance Index: -14.3900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.6920
    Cell Significance Index: -13.5100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.6973
    Cell Significance Index: -11.6700
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.7056
    Cell Significance Index: -5.1300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.7197
    Cell Significance Index: -15.0200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.7925
    Cell Significance Index: -15.9100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** FGF13 is a secreted protein that belongs to the fibroblast growth factor family. It is characterized by the presence of a fibroblast growth factor homology domain, which enables it to interact with its receptor, FGF receptors. FGF13 is predominantly expressed in the nervous system, including neuronal brush cells, granule cells, and stellate neurons. Its expression is also observed in muscle cells, including ciliary muscle cells and Purkinje cells. **Pathways and Functions:** FGF13 plays a crucial role in the development and maintenance of the nervous system. It is involved in the regulation of neuronal migration, neuron projection, and the establishment of neuroblast polarity. FGF13 also participates in the regulation of cardiac conduction and muscle contraction, where it modulates the activity of voltage-gated sodium channels. Furthermore, FGF13 has been implicated in the regulation of microtubule polymerization and microtubule binding, which is essential for the maintenance of cellular structure and function. In addition to its role in neural and muscular development, FGF13 has been shown to regulate the activity of microtubule depolymerization and negative regulation of collateral sprouting. It also participates in the regulation of signal transduction pathways, including the MAPK cascade, which is involved in learning and memory. **Clinical Significance:** Dysregulation of FGF13 has been implicated in various neurological and muscular disorders. For instance, mutations in the FGF13 gene have been associated with congenital anomalies of the nervous system, including spina bifida and hydrocephalus. Furthermore, FGF13 has been shown to play a role in the regulation of cardiac muscle cell action potential, which is essential for the proper functioning of the heart. In addition, FGF13 has been implicated in the regulation of muscle contraction and relaxation, which is essential for maintaining muscle function and preventing muscle wasting disorders. Dysregulation of FGF13 has also been linked to various neurological disorders, including Alzheimer's disease, Parkinson's disease, and Huntington's disease. In conclusion, FGF13 is a multifaceted protein that plays a crucial role in neural and muscular development and function. Its dysregulation has been implicated in various neurological and muscular disorders, highlighting the importance of FGF13 as a potential therapeutic target for the treatment of these conditions. **References:** * [Insert references to relevant studies and articles on FGF13] **Future Directions:** Further research is needed to elucidate the mechanisms by which FGF13 regulates neural and muscular development and function. Additionally, the development of therapeutic strategies targeting FGF13 may provide new avenues for the treatment of various neurological and muscular disorders. **Conclusion:** In summary, FGF13 is a multifaceted protein that plays a crucial role in neural and muscular development and function. Its dysregulation has been implicated in various neurological and muscular disorders, highlighting the importance of FGF13 as a potential therapeutic target. Further research is needed to elucidate the mechanisms by which FGF13 regulates neural and muscular development and function, and to develop effective therapeutic strategies for the treatment of these conditions.

Genular Protein ID: 291956521

Symbol: FGF13_HUMAN

Name: Fibroblast growth factor homologous factor 2

UniProtKB Accession Codes:

Q92913 B1AK18 B7Z4M7 B7Z8N0 D3DWH4 O95830 Q9NZH9 Q9NZI0

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 5 CDD 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 25 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 37 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 1 RefSeq 7 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8790420

Title: Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development.

PubMed ID: 8790420

DOI: 10.1073/pnas.93.18.9850

PubMed ID: 10071193

Title: 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.

PubMed ID: 10071193

DOI: 10.1007/s004390050910

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10644718

Title: Isoform diversity among fibroblast growth factor homologous factors is generated by alternative promoter usage and differential splicing.

PubMed ID: 10644718

DOI: 10.1074/jbc.275.4.2589

PubMed ID: 9232594

Title: Murine FGF-12 and FGF-13: expression in embryonic nervous system, connective tissue and heart.

PubMed ID: 9232594

DOI: 10.1016/s0925-4773(97)00042-7

PubMed ID: 11378392

Title: Fibroblast growth factor homologous factors are intracellular signaling proteins.

PubMed ID: 11378392

DOI: 10.1016/s0960-9822(01)00232-9

PubMed ID: 15282281

Title: Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons.

PubMed ID: 15282281

DOI: 10.1523/jneurosci.1628-04.2004

PubMed ID: 21817159

Title: Fibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine hearts.

PubMed ID: 21817159

DOI: 10.1161/circresaha.111.247957

PubMed ID: 21566136

Title: Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels.

PubMed ID: 21566136

DOI: 10.1074/jbc.m111.245803

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 36696443

Title: Cryo-EM structure of human voltage-gated sodium channel Nav1.6.

PubMed ID: 36696443

DOI: 10.1073/pnas.2220578120

PubMed ID: 34184986

Title: 5'-UTR SNP of FGF13 causes translational defect and intellectual disability.

PubMed ID: 34184986

DOI: 10.7554/elife.63021

PubMed ID: 19406745

Title: Crystal structure of a fibroblast growth factor homologous factor (FHF) defines a conserved surface on FHFs for binding and modulation of voltage-gated sodium channels.

PubMed ID: 19406745

DOI: 10.1074/jbc.m109.001842

PubMed ID: 33245860

Title: Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

PubMed ID: 33245860

DOI: 10.1016/j.ajhg.2020.10.017

PubMed ID: 34871784

Title: Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90.

PubMed ID: 34871784

DOI: 10.1016/j.ejmg.2021.104403

Sequence Information:

  • Length: 245
  • Mass: 27564
  • Checksum: 30FB62C6B2669F29
  • Sequence:
    • MAAAIASSLI RQKRQARERE KSNACKCVSS PSKGKTSCDK NKLNVFSRVK LFGSKKRRRR 
RPEPQLKGIV TKLYSRQGYH LQLQADGTID GTKDEDSTYT LFNLIPVGLR VVAIQGVQTK 
LYLAMNSEGY LYTSELFTPE CKFKESVFEN YYVTYSSMIY RQQQSGRGWY LGLNKEGEIM 
KGNHVKKNKP AAHFLPKPLK VAMYKEPSLH DLTEFSRSGS GTPTKSRSVS GVLNGGKSMS 
HNEST

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.