SCN2A
Summary: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| sodium voltage-gated channel alpha subunit 2 | MIM:182390 | Ensembl:ENSG00000136531 | HGNC:HGNC:10588 | PA35004 | 2q24.3 |
GO terms in SCN2A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0001518 | voltage-gated sodium channel complex |
| CC | IEA | GO:0005622 | intracellular |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | IEA | GO:0014704 | intercalated disc |
| CC | IEA | GO:0030315 | T-tubule |
| CC | TAS | GO:0030424 | axon |
| CC | ISS | GO:0031226 | intrinsic component of plasma membrane |
| CC | ISS | GO:0033268 | node of Ranvier |
| CC | IEA | GO:0033270 | paranode region of axon |
| CC | ISS | GO:0034706 | sodium channel complex |
| BP | TAS | GO:0006814 | sodium ion transport |
| BP | IEA | GO:0008627 | intrinsic apoptotic signaling pathway in response to osmotic stress |
| 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 | ISS | GO:0035725 | sodium ion transmembrane transport |
| BP | ISS | GO:0042552 | myelination |
| BP | IEA | GO:0051402 | neuron apoptotic process |
| 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 | IMP | GO:0005248 | voltage-gated sodium channel activity |
| MF | ISS | GO:0005248 | voltage-gated sodium channel activity |
| MF | IBA | GO:0005261 | cation channel activity |
Gene expression in normal tissue: SCN2A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SCN2A
| 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 SCN2A
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.