Harmonizome 3.0

sodium channel, voltage gated, type VIII alpha subunit

This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term scn8a in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for SCN8A from the Pathway Commons Protein-Protein Interactions dataset.

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the SCN8A gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Scn8A-Related Epilepsy With Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SCN8A-related complex neurodevelopmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.