Identity
HGNC
LOCATION
2q24.3
LOCUSID
ALIAS
BFIC3,BFIS3,BFNIS,DEE11,EA9,EIEE11,HBA,HBSCI,HBSCII,NAC2,Na(v)1.2,Nav1.2,SCN2A1,SCN2A2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6326
MIM: 182390
HGNC: 10588
Ensembl: ENSG00000136531
Variants:
dbSNP: 6326
ClinVar: 6326
TCGA: ENSG00000136531
COSMIC: SCN2A
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA143485705 | antiepileptics | Chemical | ClinicalAnnotation | associated | PD | 18784617, 23859570, 25155934 | |
| PA444065 | Epilepsy | Disease | ClinicalAnnotation | associated | PD | 18784617, 23859570, 25155934 | |
| PA448785 | carbamazepine | Chemical | ClinicalAnnotation | associated | PD | 18784617, 23859570, 25155934 | |
| PA450164 | lamotrigine | Chemical | ClinicalAnnotation | associated | PD | 18784617, 25155934 | |
| PA450732 | oxcarbazepine | Chemical | ClinicalAnnotation | associated | PD | 18784617, 25155934 | |
| PA450911 | phenobarbital | Chemical | ClinicalAnnotation | associated | PD | 23859570, 25155934 | |
| PA450947 | phenytoin | Chemical | ClinicalAnnotation | associated | PD | 18784617, 23859570, 25155934 | |
| PA451728 | topiramate | Chemical | ClinicalAnnotation | associated | PD | 18784617, 25155934 | |
| PA451846 | valproic acid | Chemical | ClinicalAnnotation | associated | PD | 23859570, 25155934 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38097767 | 2024 | Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene. | 1 |
| 38148154 | 2024 | Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy. | 0 |
| 38564633 | 2024 | Pathogenic gating pore current conducted by autism-related mutations in the Na(V)1.2 brain sodium channel. | 0 |
| 38097767 | 2024 | Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene. | 1 |
| 38148154 | 2024 | Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy. | 0 |
| 38564633 | 2024 | Pathogenic gating pore current conducted by autism-related mutations in the Na(V)1.2 brain sodium channel. | 0 |
| 36441479 | 2023 | A Push-Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels. | 1 |
| 37010102 | 2023 | Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. | 3 |
| 37271286 | 2023 | Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels. | 1 |
| 37578743 | 2023 | Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties. | 4 |
| 36441479 | 2023 | A Push-Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels. | 1 |
| 37010102 | 2023 | Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. | 3 |
| 37271286 | 2023 | Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels. | 1 |
| 37578743 | 2023 | Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties. | 4 |
| 34607551 | 2022 | Role of SCN2A c.56G/A Gene Polymorphism in Egyptian Children with Genetic Epilepsy with Febrile Seizure Plus. | 1 |
Citation
Dessen P
SCN2A (sodium voltage-gated channel alpha subunit 2)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56568/
