|
ORF cDNA clones
|
CRISPR / TALEN
|
Lentivirus
|
AAV
|
TALE-TF
|
ORF knockin clones
|
|
Antibody
|
Proteins
|
miRNA target clones
|
qPCR primers
|
shRNA clones
|
miRNA products
|
Promoter clones
|
Validated All-in-One™ qPCR Primer for SCN2A(NM_021007.3) Search again
Product ID:
HQP160568
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
BFIC3, BFIS3, BFNIS, DEE11, EA9, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2
Gene Description:
sodium voltage-gated channel alpha subunit 2
Target Gene Accession:
NM_021007.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
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.
Gene References into function
- in autism families, the variant R1902C in SCN2A is located in the calmodulin binding site and was found to reduce binding affinity for calcium-bound calmodulin.
- We found a nonsense mutation of SCN2A in a patient with intractable epilepsy and severe mental decline. The phenotype is like severe myoclonic epilepsy in infancy but distinct because of partial epilepsy, delayed onset and no temperature sensitivity
- a role for the hemizygous deletion of not one but two sodium channel genes (SCN1A and SCN2A) in another complicated and more severe epileptic phenotype.
- Calmodulin mediates Ca2+ sensitivity of Nav1.2 and Nav1.5 sodium channels
- Although data suggest that SCN2A1 activity does not directly influence membrane potential, intracellular Ca(2+) release, or proliferation in normal human pulmonary artery smooth muscle cells, its physiological functions remain unresolved.
- Genetic interaction between the combined mild alleles of monogenic epilepsy genes KCNQ2 and SCN2A1 results in severe epilepsy in transgenic mice.
- Data show that the varied effects of beta1 and beta2 on Nav1.5 and Nav1.2 gating are apparently synergistic and highlight the complex manner, through subunit- and sugar-dependent mechanisms, by which Nav activity is modulated.
- The SCN2A gene was tested for a possible role in hippocampal abnormalities in familial mesial temporal lobe epilepsy. We conclusively ruled out the SCN2A gene as a candidate in FMTLE.
- two large families with benign familial neonatal-infantile seizure (BFNIS) and novel SCN2A mutations; the families had 12 & 9 affected individuals, respectively, with phenotypes consistent with BFNIS; two mutations were discovered in SCN2A (E430Q; I1596S
- analysis of neonatal & adult splice forms of NaV1.2 with a benign familial neonatal-infantile seizures mutation; developmentally regulated NaV1.2 splicing may be one mechanism that counters the normally high excitability of neonatal neurons
- Characterization of 5' untranslated regions SCN2A, and identification of cis-conserved noncoding sequences
- In south china, the R188W mutation of the SCN2A gene not releate to children with febrile seizures.
- Allele frequencies of both the D2S111 and the D2S124 polymorphisms of the SCN2A gene were not significantly different between cases with a specific idiopathic generalized epilepsy subtype (with generalized tonic-clonic seizures) and healthy controls.
- Nav1.2 immunostaining was not observed along demyelinated axons in chronic lesions but was expressed by scar and reactive astrocytes within the plaque.
- SCN2A gene mutations are associated with inherited benign neonatal-infantile epilepsy.
- The association of antiepileptic drugs responsiveness with genetic polymorphisms was investigated and any association with mRNA expression of the neuronal sodium channels was correlated.