FGF13
Fibroblast growth factor 13
Also known as: FGF13_HUMAN, FGF2, FHF2, FLJ30672, LINC00889
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92913
- Gene
- FGF13
- Ensembl
- ENSG00000129682
- Chromosome
- X
- Canonical length
- 245 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
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, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]
Canonical amino-acid sequenceUniProt
245 residues, UniProt reviewed canonical sequence.
>Q92913|FGF13
1 MAAAIASSLI RQKRQARERE KSNACKCVSS PSKGKTSCDK NKLNVFSRVK LFGSKKRRRR
61 RPEPQLKGIV TKLYSRQGYH LQLQADGTID GTKDEDSTYT LFNLIPVGLR VVAIQGVQTK
121 LYLAMNSEGY LYTSELFTPE CKFKESVFEN YYVTYSSMIY RQQQSGRGWY LGLNKEGEIM
181 KGNHVKKNKP AAHFLPKPLK VAMYKEPSLH DLTEFSRSGS GTPTKSRSVS GVLNGGKSMS
241 HNESTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FGF13 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 65 nTPM
Expression across tissuesHPA
Tissue
- hippocampal formation: 65 nTPM
- amygdala: 53 nTPM
- skeletal muscle: 52 nTPM
- cerebral cortex: 52 nTPM
- basal ganglia: 51 nTPM
- tongue: 41 nTPM
Single-cell type
- myonuclei: 946 nCPM
- distal convoluted tubule cells: 938 nCPM
- endometrial glandular cells: 817 nCPM
- prostatic glandular cells: 783 nCPM
- epididymal clear cells: 741 nCPM
- salivary acinar cells: 562 nCPM
Immune cell
- neutrophil: 3.4 nTPM
- basophil: 1.6 nTPM
- eosinophil: 0.8 nTPM
- plasmacytoid DC: 0.4 nTPM
- classical monocyte: 0.2 nTPM
- memory B-cell: 0.2 nTPM
Brain region
- pons: 91 nTPM
- hippocampal formation: 75 nTPM
- cerebral cortex: 62 nTPM
- thalamus: 49 nTPM
- hypothalamus: 43 nTPM
- basal ganglia: 43 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FGF13.
Disease | AllUniProt
Conditions FGF13 is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 90 (DEE90) MIM:301058
- Intellectual developmental disorder, X-linked 110 (XLID110) MIM:301095
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 118 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy, 90
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.41
- gnomAD pLI
- 0.89
- gnomAD missense Z
- 1.59
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- branching morphogenesis of a nerve
- cell-cell signaling
- cerebral cortex cell migration
- establishment of neuroblast polarity
- hippocampus development
- inhibitory synapse assembly
- learning
- MAPK cascade
- memory
- microtubule polymerization
- negative regulation of collateral sprouting
- negative regulation of microtubule depolymerization
- nervous system development
- neurogenesis
- neuron migration
- positive regulation of voltage-gated sodium channel activity
- protein localization to plasma membrane
- regulation of cardiac muscle cell action potential involved in regulation of contraction
- signal transduction
- sodium ion transport
Molecular functions
- beta-tubulin binding
- growth factor activity
- microtubule binding
- sodium channel regulator activity
- transmembrane transporter binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FGF13 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FGF13 as an antibody target. Whether an autoantibody or antibody against FGF13 could matter depends on whether native FGF13 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FGF13 is annotated at the cell surface, where native FGF13 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label FGF13 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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