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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
3
Cytoband
Chromosome location (bp)
192139390 - 192767764
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Growth factor
Gene summary (Entrez)i
Useful information about the gene from Entrez
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 growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0005515[protein binding] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0007165[signal transduction] GO:0007254[JNK cascade] GO:0007267[cell-cell signaling] GO:0007268[chemical synaptic transmission] GO:0007399[nervous system development] GO:0007507[heart development] GO:0008083[growth factor activity] GO:0008201[heparin binding] GO:0008344[adult locomotory behavior] GO:0008543[fibroblast growth factor receptor signaling pathway] GO:0010765[positive regulation of sodium ion transport] GO:0017080[sodium channel regulator activity] GO:0044325[transmembrane transporter binding] GO:0045202[synapse] GO:0050905[neuromuscular process] GO:0086002[cardiac muscle cell action potential involved in contraction] GO:0098908[regulation of neuronal action potential] GO:1902305[regulation of sodium ion transmembrane transport] GO:1905150[regulation of voltage-gated sodium channel activity] GO:2000649[regulation of sodium ion transmembrane transporter activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0005515[protein binding] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0007165[signal transduction] GO:0007254[JNK cascade] GO:0007267[cell-cell signaling] GO:0007399[nervous system development] GO:0007507[heart development] GO:0008083[growth factor activity] GO:0008201[heparin binding] GO:0008543[fibroblast growth factor receptor signaling pathway] GO:0017080[sodium channel regulator activity] GO:0044325[transmembrane transporter binding] GO:0045202[synapse] GO:0086002[cardiac muscle cell action potential involved in contraction] GO:0098908[regulation of neuronal action potential] GO:1902305[regulation of sodium ion transmembrane transport] GO:1905150[regulation of voltage-gated sodium channel activity] GO:2000649[regulation of sodium ion transmembrane transporter activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0005515[protein binding] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0007165[signal transduction] GO:0007267[cell-cell signaling] GO:0007399[nervous system development] GO:0007507[heart development] GO:0008083[growth factor activity] GO:0008543[fibroblast growth factor receptor signaling pathway] GO:0017080[sodium channel regulator activity] GO:0044325[transmembrane transporter binding] GO:0045202[synapse] GO:0086002[cardiac muscle cell action potential involved in contraction] GO:0098908[regulation of neuronal action potential] GO:1902305[regulation of sodium ion transmembrane transport] GO:1905150[regulation of voltage-gated sodium channel activity] GO:2000649[regulation of sodium ion transmembrane transporter activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0005515[protein binding] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0007165[signal transduction] GO:0007254[JNK cascade] GO:0007267[cell-cell signaling] GO:0007399[nervous system development] GO:0007507[heart development] GO:0008083[growth factor activity] GO:0008201[heparin binding] GO:0008543[fibroblast growth factor receptor signaling pathway] GO:0017080[sodium channel regulator activity] GO:0044325[transmembrane transporter binding] GO:0045202[synapse] GO:0086002[cardiac muscle cell action potential involved in contraction] GO:0098908[regulation of neuronal action potential] GO:1902305[regulation of sodium ion transmembrane transport] GO:1905150[regulation of voltage-gated sodium channel activity] GO:2000649[regulation of sodium ion transmembrane transporter activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0005515[protein binding] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0007165[signal transduction] GO:0007254[JNK cascade] GO:0007267[cell-cell signaling] GO:0007399[nervous system development] GO:0007507[heart development] GO:0008083[growth factor activity] GO:0008201[heparin binding] GO:0008543[fibroblast growth factor receptor signaling pathway] GO:0017080[sodium channel regulator activity] GO:0044325[transmembrane transporter binding] GO:0045202[synapse] GO:0086002[cardiac muscle cell action potential involved in contraction] GO:0098908[regulation of neuronal action potential] GO:1902305[regulation of sodium ion transmembrane transport] GO:1905150[regulation of voltage-gated sodium channel activity] GO:2000649[regulation of sodium ion transmembrane transporter activity]
The Human Protein Atlas project is funded
