Summary: 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].

sodium voltage-gated channel alpha subunit 8MIM:600702Ensembl:ENSG00000196876HGNC:HGNC:10596PA3500912q13.13

GO terms in SCN8A

Term TypeEvidence TypeGO Term IDGO Des.
MFIEAGO:0005244voltage-gated ion channel activity
MFIBAGO:0005248voltage-gated sodium channel activity
MFIDAGO:0005248voltage-gated sodium channel activity
MFIMPGO:0005248voltage-gated sodium channel activity
MFNASGO:0005248voltage-gated sodium channel activity
MFIBAGO:0005261cation channel activity
MFIPIGO:0005515protein binding
MFIEAGO:0005524ATP binding
BPNASGO:0006814sodium ion transport
BPTASGO:0007399nervous system development
BPISSGO:0007422peripheral nervous system development
BPIBAGO:0019228neuronal action potential
BPIEAGO:0034765regulation of ion transmembrane transport
BPIBAGO:0035725sodium ion transmembrane transport
BPIEAGO:0035725sodium ion transmembrane transport
BPIBAGO:0086010membrane depolarization during action potential
CCICGO:0001518voltage-gated sodium channel complex
CCIBAGO:0005886plasma membrane
CCTASGO:0016021integral component of membrane
CCISSGO:0030018Z disc
CCIEAGO:0031410cytoplasmic vesicle
CCISSGO:0033268node of Ranvier
CCISSGO:0043194axon initial segment

Gene expression in normal tissue: SCN8A

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SCN8A

DatabasePathway IDPathway Des.
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-373760L1CAM interactions
reactomeR-HSA-397014Muscle contraction
reactomeR-HSA-422475Axon guidance
reactomeR-HSA-445095Interaction between L1 and Ankyrins
reactomeR-HSA-5576891Cardiac conduction
reactomeR-HSA-5576892Phase 0 - rapid depolarisation

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SCN8A