| Gene Information | |
|---|---|
| Gene Name | MED |
| Organism | Homo sapiens (Human) |
| Gene Length | 1980 |
| Protein Names | Sodium channel protein type 8 subunit alpha (Sodium channel protein type VIII subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.6) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9UQD0 |
| Gene Card | SCN8A |
| Uniprot ID | Q9UQD0 |
| Pfam | PF00520; PF00612; PF06512; PF11933 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in the hippocampus with increased expression in epileptic tissue compared to normal adjacent tissue (at protein level) (PubMed:28842554). Isoform 5: Expressed in non-neuronal tissues, such as monocytes/macrophages. {ECO:0000269|PubMed:19136557, ECO:0000269|PubMed:28842554}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs879255696 rs672601319 rs879255697 rs1057519557 rs879255698 rs879255699 rs76222829 rs797045013 rs879255700 rs587780586 rs879255702 rs1592149793 rs879255703 rs1057519540 rs876657399 rs879255704 rs397514738 rs863223345 rs587777722 rs587777723 rs796053216 rs796053217 rs879255652 rs587780454 rs879255705 rs587777721 rs879255709 rs1565934070 rs202151337 rs879255710 rs796053229 rs796053229 rs796053228 rs587780455 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:19136557}; Multi-pass membrane protein {ECO:0000269|PubMed:19136557}. Cell projection, axon {ECO:0000250|UniProtKB:Q9WTU3}. Note=Mainly localizes to the axon initial segment. {ECO:0000250|UniProtKB:Q9WTU3}.; [Isoform 5]: Cytoplasmic vesicle. Note=Some vesicles are localized adjacent to melanoma invadopodia and macrophage podosomes. Does not localize to the plasma membrane. |
| Mouse PG classification | NA |
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