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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy, 90 Likely pathogenic; Pathogenic rs2124253547, rs2520980831, rs2520981115, rs2090039774, rs2090039606, rs2090039732 RCV001542464
RCV002287847
RCV002508182
RCV001292555
RCV001292556
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FGF13-related disorder Uncertain significance; Conflicting classifications of pathogenicity; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achondroplasia Achondroplasia BEFREE 27040652, 9158142
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 17721409, 2710130
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 26578364
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke BEFREE 16132618
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17011029, 30537478
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 15674361
★☆☆☆☆
Found in Text Mining only
Adamantinous Craniopharyngioma Adamantinous Craniopharyngioma BEFREE 16955781
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11299793, 12377649, 12448000, 12579092, 17478553, 17569023, 18829480, 30035358, 8568589
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 16905765, 17478553, 18829480
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 10383711, 12579092, 17477358, 17569023, 20945415
★☆☆☆☆
Found in Text Mining only