SCN8A
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| sodium voltage-gated channel alpha subunit 8 | MIM:600702 | Ensembl:ENSG00000196876 | HGNC:HGNC:10596 | PA35009 | 12q13.13 |
GO terms in SCN8A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0005244 | voltage-gated ion channel activity |
| MF | IBA | GO:0005248 | voltage-gated sodium channel activity |
| MF | IDA | GO:0005248 | voltage-gated sodium channel activity |
| MF | IMP | GO:0005248 | voltage-gated sodium channel activity |
| MF | NAS | GO:0005248 | voltage-gated sodium channel activity |
| MF | IBA | GO:0005261 | cation channel activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| BP | NAS | GO:0006814 | sodium ion transport |
| BP | TAS | GO:0007399 | nervous system development |
| BP | ISS | GO:0007422 | peripheral nervous system development |
| BP | IBA | GO:0019228 | neuronal action potential |
| BP | IEA | GO:0034765 | regulation of ion transmembrane transport |
| BP | IBA | GO:0035725 | sodium ion transmembrane transport |
| BP | IEA | GO:0035725 | sodium ion transmembrane transport |
| BP | ISS | GO:0042552 | myelination |
| BP | IBA | GO:0086010 | membrane depolarization during action potential |
| CC | IC | GO:0001518 | voltage-gated sodium channel complex |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0016021 | integral component of membrane |
| CC | ISS | GO:0030018 | Z disc |
| CC | IEA | GO:0031410 | cytoplasmic vesicle |
| CC | ISS | GO:0033268 | node of Ranvier |
| CC | ISS | GO:0043194 | axon initial segment |
Gene expression in normal tissue: SCN8A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SCN8A
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-397014 | Muscle contraction |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-445095 | Interaction between L1 and Ankyrins |
| reactome | R-HSA-5576891 | Cardiac conduction |
| reactome | R-HSA-5576892 | Phase 0 - rapid depolarisation |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SCN8A
CLASSFICATION
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