SCN3A
Summary: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| sodium voltage-gated channel alpha subunit 3 | MIM:182391 | Ensembl:ENSG00000153253 | HGNC:HGNC:10590 | PA35005 | 2q24.3 |
GO terms in SCN3A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0001518 | voltage-gated sodium channel complex |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IBA | GO:0005886 | plasma membrane |
| BP | NAS | GO:0006814 | sodium ion transport |
| 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 | IBA | GO:0086010 | membrane depolarization during action potential |
| MF | IEA | GO:0005244 | voltage-gated ion channel activity |
| MF | IBA | GO:0005248 | voltage-gated sodium channel activity |
| MF | NAS | GO:0005248 | voltage-gated sodium channel activity |
| MF | IBA | GO:0005261 | cation channel activity |
Gene expression in normal tissue: SCN3A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SCN3A
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04742 | Taste transduction - Homo sapiens (human) |
| 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 SCN3A
CLASSFICATION
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