Gene Gene information from NCBI Gene database.
Entrez ID 2258
Gene name Fibroblast growth factor 13
Gene symbol FGF13
Synonyms (NCBI Gene)
DEE90FGF-13FGF2FHF-2FHF2LINC00889XLID110
Chromosome X
Chromosome location Xq26.3-q27.1
Summary 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, cel
miRNA miRNA information provided by mirtarbase database.
109
miRTarBase ID miRNA Experiments Reference
MIRT732458 hsa-miR-193b-5p Immunohistochemistry (IHC)Luciferase reporter assayWestern blotting 32803505
MIRT995567 hsa-miR-541 CLIP-seq
MIRT995568 hsa-miR-578 CLIP-seq
MIRT995569 hsa-miR-654-5p CLIP-seq
MIRT995570 hsa-miR-1264 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
78
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IDA 12244047
GO:0001764 Process Neuron migration IEA
GO:0001764 Process Neuron migration ISS
GO:0005515 Function Protein binding IPI 15282281, 26392562, 32296183
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300070 3670 ENSG00000129682
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92913
Protein name Fibroblast growth factor 13 (FGF-13) (Fibroblast growth factor homologous factor 2) (FHF-2)
Protein function Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules (By similarity). Through its action on microtubules, may participate in the refinement of axons by negatively regul
PDB 3HBW , 4DCK , 4JPZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00167 FGF 69 195 Fibroblast growth factor Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Predominantly expressed in the nervous system. {ECO:0000269|PubMed:9232594}.
Sequence
MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRR
RPEPQLKGIVTKLYSRQGYHLQLQADGTIDGTKDEDSTYTLFNLIPVGLRVVAIQGVQTK
LYLAMNSEGYLYTSELFTPECKFKESVFENYYVTYSSMIYRQQQSGRGWYLGLNKEGEIM
KGNHVKKNKPAAHFL
PKPLKVAMYKEPSLHDLTEFSRSGSGTPTKSRSVSGVLNGGKSMS
HNEST
Sequence length 245
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Phase 0 - rapid depolarisation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy, 90 Likely pathogenic; Pathogenic rs2124253547, rs2520980831, rs2520981115, rs2090039774, rs2090039606, rs2090039732 RCV001542464
RCV002287847
RCV002508182
RCV001292555
RCV001292556
RCV001292557
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FGF13-related disorder Uncertain significance; Conflicting classifications of pathogenicity; Likely benign rs756270099, rs17510270, rs148880615 RCV004757579
RCV003901080
RCV003966751
Intellectual developmental disorder, X-linked 110 Conflicting classifications of pathogenicity rs757803941 RCV003152463
Neurodevelopmental disorder Uncertain significance rs2090039732 RCV001374973
Thyroid cancer, nonmedullary, 1 Uncertain significance rs2520980047 RCV005927668
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anodontia Associate 32249341
Carcinoma Hepatocellular Associate 32815653
Carcinoma Non Small Cell Lung Associate 33064958
Carcinoma Pancreatic Ductal Associate 34061869
CDKL5 deficiency disorder Associate 33245860
Colorectal Neoplasms Associate 33495804
Encephalitis Viral Associate 37891420
Epilepsy Associate 33245860
Epileptic Encephalopathy Early Infantile 3 Associate 33245860
Glioma Associate 33064958