Details for: SCN2A

Gene ID: 6326

Symbol: SCN2A

Ensembl ID: ENSG00000136531

Description: sodium voltage-gated channel alpha subunit 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 133.3960
    Cell Significance Index: -33.8400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 7.7314
    Cell Significance Index: 169.2900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 4.9044
    Cell Significance Index: 60.8300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 4.4693
    Cell Significance Index: 127.5400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 4.4140
    Cell Significance Index: 195.2400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 4.3558
    Cell Significance Index: 74.6500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 4.1798
    Cell Significance Index: 158.2800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 4.0989
    Cell Significance Index: 275.6100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 3.5616
    Cell Significance Index: 1277.4700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 3.0667
    Cell Significance Index: 615.1700
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 2.9030
    Cell Significance Index: 38.7300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 2.7852
    Cell Significance Index: 36.1200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 2.4995
    Cell Significance Index: 153.6300
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 1.3944
    Cell Significance Index: 14.5300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.3212
    Cell Significance Index: 31.6900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.8744
    Cell Significance Index: 6.7400
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.7224
    Cell Significance Index: 7.9700
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.6918
    Cell Significance Index: 5.7100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3819
    Cell Significance Index: 20.0500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1853
    Cell Significance Index: 26.9400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.1259
    Cell Significance Index: 1.5700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.1222
    Cell Significance Index: 4.0000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.1214
    Cell Significance Index: 2.4000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.0757
    Cell Significance Index: 2.4100
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0757
    Cell Significance Index: 0.7200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.0583
    Cell Significance Index: 1.1700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0082
    Cell Significance Index: 15.4000
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0009
    Cell Significance Index: -0.0100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0173
    Cell Significance Index: -31.8900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0218
    Cell Significance Index: -15.9600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0219
    Cell Significance Index: -33.7100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0251
    Cell Significance Index: -34.1600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0389
    Cell Significance Index: -28.8100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0417
    Cell Significance Index: -18.9100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0467
    Cell Significance Index: -29.6400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0528
    Cell Significance Index: -1.1200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0554
    Cell Significance Index: -41.9600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0568
    Cell Significance Index: -32.0100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0632
    Cell Significance Index: -39.4500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0761
    Cell Significance Index: -33.6600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0805
    Cell Significance Index: -43.9900
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: -0.1017
    Cell Significance Index: -0.7800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1048
    Cell Significance Index: -20.7900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1110
    Cell Significance Index: -31.9300
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.1229
    Cell Significance Index: -1.4700
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1371
    Cell Significance Index: -1.7300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1414
    Cell Significance Index: -2.0300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1509
    Cell Significance Index: -3.2600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1720
    Cell Significance Index: -36.2300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1772
    Cell Significance Index: -31.9400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1872
    Cell Significance Index: -4.6700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1912
    Cell Significance Index: -32.6500
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: -0.1920
    Cell Significance Index: -1.5500
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.1963
    Cell Significance Index: -2.3800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2534
    Cell Significance Index: -34.8000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2618
    Cell Significance Index: -26.7500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2638
    Cell Significance Index: -32.4400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2689
    Cell Significance Index: -34.7400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.2702
    Cell Significance Index: -11.7500
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.2773
    Cell Significance Index: -3.2400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3045
    Cell Significance Index: -34.8900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3282
    Cell Significance Index: -38.2500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.3418
    Cell Significance Index: -3.2400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3720
    Cell Significance Index: -38.7300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.3829
    Cell Significance Index: -49.0800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.4157
    Cell Significance Index: -10.0700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4264
    Cell Significance Index: -26.8800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4284
    Cell Significance Index: -33.9300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4461
    Cell Significance Index: -25.0300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4695
    Cell Significance Index: -34.9900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.4721
    Cell Significance Index: -33.3900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4796
    Cell Significance Index: -36.8000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5084
    Cell Significance Index: -17.8100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.5271
    Cell Significance Index: -14.7300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5811
    Cell Significance Index: -30.2700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.6008
    Cell Significance Index: -12.5400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.6028
    Cell Significance Index: -38.8900
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.6122
    Cell Significance Index: -12.0500
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.6459
    Cell Significance Index: -8.1500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.7168
    Cell Significance Index: -33.6900
  • Cell Name: intratelencephalic-projecting glutamatergic cortical neuron (CL4023008)
    Fold Change: -0.7217
    Cell Significance Index: -7.4200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.7257
    Cell Significance Index: -37.7000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.7812
    Cell Significance Index: -35.4100
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.7847
    Cell Significance Index: -10.4600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.8311
    Cell Significance Index: -38.7500
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: -0.8414
    Cell Significance Index: -8.9100
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.8578
    Cell Significance Index: -17.1100
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.8854
    Cell Significance Index: -12.4100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.9892
    Cell Significance Index: -34.7600
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -1.1191
    Cell Significance Index: -10.0900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.1360
    Cell Significance Index: -33.4600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -1.1894
    Cell Significance Index: -34.2700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -1.1917
    Cell Significance Index: -37.6900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.2077
    Cell Significance Index: -34.6200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -1.2532
    Cell Significance Index: -31.2500
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -1.2607
    Cell Significance Index: -11.4900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -1.2764
    Cell Significance Index: -22.0700
  • Cell Name: interneuron (CL0000099)
    Fold Change: -1.2799
    Cell Significance Index: -14.9500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -1.2950
    Cell Significance Index: -29.9200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -1.3065
    Cell Significance Index: -34.8900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The SCN2A gene exhibits several key characteristics that underscore its significance in neural function: 1. **Voltage-gated sodium channel function**: SCN2A is a critical component of VGSCs, which are responsible for the rapid depolarization phase (Phase 0) of the action potential. 2. **High expression levels**: SCN2A is highly expressed in neurons, particularly in Purkinje cells, inhibitory interneurons, and sensory neurons. 3. **Wide tissue distribution**: SCN2A is expressed in various tissues, including the brain, heart, kidneys, and muscles. 4. **Disease association**: SCN2A mutations have been linked to various neurological disorders, such as epilepsy, myasthenia gravis, and Lambert-Eaton syndrome. **Pathways and Functions** SCN2A is involved in several critical pathways and functions: 1. **Neuronal excitability**: SCN2A regulates neuronal excitability by controlling the frequency and amplitude of action potentials. 2. **Sensory perception**: SCN2A is essential for the transmission of sensory information, particularly for the detection of sweet, bitter, and umami tastes. 3. **Muscle contraction**: SCN2A plays a role in regulating muscle contraction by controlling the depolarization phase of the action potential. 4. **Cardiac conduction**: SCN2A is involved in cardiac conduction, regulating the propagation of electrical impulses in the heart. 5. **Apoptotic signaling**: SCN2A is involved in intrinsic apoptotic signaling pathways, responding to osmotic stress and other forms of cellular stress. **Clinical Significance** The SCN2A gene has significant clinical implications: 1. **Epilepsy**: SCN2A mutations are a common cause of genetic epilepsy, particularly in familial cases. 2. **Neuromuscular junction disorders**: SCN2A mutations are associated with disorders such as myasthenia gravis and Lambert-Eaton syndrome. 3. **Cardiac arrhythmias**: SCN2A mutations can contribute to cardiac arrhythmias, such as long QT syndrome. 4. **Sensory disorders**: SCN2A mutations can lead to sensory disorders, including impaired taste perception. 5. **Diagnostic and therapeutic challenges**: SCN2A mutations can present diagnostic and therapeutic challenges, highlighting the need for comprehensive genetic testing and personalized treatment approaches. In conclusion, the SCN2A gene plays a critical role in regulating neuronal excitability, sensory perception, muscle contraction, and cardiac conduction. Its involvement in various neurological disorders highlights the importance of SCN2A in maintaining proper neural function. Further research is necessary to fully elucidate the mechanisms underlying SCN2A-mediated functions and to develop effective therapeutic strategies for SCN2A-related disorders.

Genular Protein ID: 390754520

Symbol: SCN2A_HUMAN

Name: HBSC II

UniProtKB Accession Codes:

Q99250 A6NC14 A6NIQ5 Q14472 Q53T77 Q9BZC9 Q9BZD0

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEBI 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 4 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 25 DrugCentral 1 EMBL 49 EMDB 1 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 25 Gene3D 4 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 PANTHER 2 PDB 5 PDBsum 5 PIR 2 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 7 Rhea 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1325650

Title: Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.

PubMed ID: 1325650

DOI: 10.1073/pnas.89.17.8220

PubMed ID: 11245985

Title: Genomic structures of SCN2A and SCN3A -- candidate genes for deafness at the DFNA16 locus.

PubMed ID: 11245985

DOI: 10.1016/s0378-1119(00)00594-1

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 1317301

Title: Differential expression of two sodium channel subtypes in human brain.

PubMed ID: 1317301

DOI: 10.1016/0014-5793(92)80476-w

PubMed ID: 1846440

Title: Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23.

PubMed ID: 1846440

DOI: 10.1073/pnas.88.2.335

PubMed ID: 24297919

Title: Crystallographic insights into sodium-channel modulation by the beta4 subunit.

PubMed ID: 24297919

DOI: 10.1073/pnas.1314557110

PubMed ID: 24497506

Title: A disulfide tether stabilizes the block of sodium channels by the conotoxin muO[section sign]-GVIIJ.

PubMed ID: 24497506

DOI: 10.1073/pnas.1324189111

PubMed ID: 26894959

Title: Binary architecture of the Nav1.2-beta2 signaling complex.

PubMed ID: 26894959

DOI: 10.7554/elife.10960

PubMed ID: 26645390

Title: Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

PubMed ID: 26645390

DOI: 10.1007/s00415-015-7984-0

PubMed ID: 28428547

Title: The tarantula toxin beta/delta-TRTX-Pre1a highlights the importance of the S1-S2 voltage-sensor region for sodium channel subtype selectivity.

PubMed ID: 28428547

DOI: 10.1038/s41598-017-01129-0

PubMed ID: 37117223

Title: Pain-causing stinging nettle toxins target TMEM233 to modulate NaV1.7 function.

PubMed ID: 37117223

DOI: 10.1038/s41467-023-37963-2

PubMed ID: 30765605

Title: Molecular basis for pore blockade of human Na+ channel Nav1.2 by the mu-conotoxin KIIIA.

PubMed ID: 30765605

DOI: 10.1126/science.aaw2999

PubMed ID: 11738931

Title: The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy.

PubMed ID: 11738931

DOI: 10.1016/s0920-1211(01)00312-6

PubMed ID: 11371648

Title: A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.

PubMed ID: 11371648

DOI: 10.1073/pnas.111065098

PubMed ID: 12243921

Title: Sodium-channel defects in benign familial neonatal-infantile seizures.

PubMed ID: 12243921

DOI: 10.1016/s0140-6736(02)09968-3

PubMed ID: 12610651

Title: Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

PubMed ID: 12610651

DOI: 10.1038/sj.mp.4001241

PubMed ID: 15048894

Title: Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

PubMed ID: 15048894

DOI: 10.1002/ana.20029

PubMed ID: 15028761

Title: A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.

PubMed ID: 15028761

DOI: 10.1523/jneurosci.3089-03.2004

PubMed ID: 16122630

Title: A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

PubMed ID: 16122630

DOI: 10.1016/j.braindev.2004.11.005

PubMed ID: 16417554

Title: A novel SCN2A mutation in family with benign familial infantile seizures.

PubMed ID: 16417554

DOI: 10.1111/j.1528-1167.2006.00392.x

PubMed ID: 17021166

Title: Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

PubMed ID: 17021166

DOI: 10.1523/jneurosci.2476-06.2006

PubMed ID: 17386050

Title: SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.

PubMed ID: 17386050

DOI: 10.1111/j.1528-1167.2007.01049.x

PubMed ID: 18479388

Title: Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.

PubMed ID: 18479388

DOI: 10.1111/j.1528-1167.2008.01619.x

PubMed ID: 19783390

Title: Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

PubMed ID: 19783390

DOI: 10.1016/j.braindev.2009.08.009

PubMed ID: 19786696

Title: De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

PubMed ID: 19786696

DOI: 10.1212/wnl.0b013e3181b9cebc

PubMed ID: 20371507

Title: Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.

PubMed ID: 20371507

DOI: 10.1093/brain/awq057

PubMed ID: 20956790

Title: SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.

PubMed ID: 20956790

DOI: 10.1212/wnl.0b013e3181f8812e

PubMed ID: 22612257

Title: Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PubMed ID: 22612257

DOI: 10.1111/j.1528-1167.2012.03516.x

PubMed ID: 22591750

Title: Acute encephalopathy with a novel point mutation in the SCN2A gene.

PubMed ID: 22591750

DOI: 10.1016/j.eplepsyres.2012.04.016

PubMed ID: 23195492

Title: Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PubMed ID: 23195492

DOI: 10.1016/j.eplepsyres.2012.06.006

PubMed ID: 22677033

Title: Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.

PubMed ID: 22677033

DOI: 10.1016/j.nbd.2012.05.017

PubMed ID: 23033978

Title: Diagnostic exome sequencing in persons with severe intellectual disability.

PubMed ID: 23033978

DOI: 10.1056/nejmoa1206524

PubMed ID: 23550958

Title: Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.

PubMed ID: 23550958

DOI: 10.1111/epi.12137

PubMed ID: 23758435

Title: An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.

PubMed ID: 23758435

DOI: 10.1111/epi.12241

PubMed ID: 23360469

Title: Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

PubMed ID: 23360469

DOI: 10.1111/epi.12089

PubMed ID: 23662938

Title: Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PubMed ID: 23662938

DOI: 10.1111/epi.12203

PubMed ID: 23708187

Title: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PubMed ID: 23708187

DOI: 10.1038/ng.2646

PubMed ID: 23935176

Title: Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

PubMed ID: 23935176

DOI: 10.1212/wnl.0b013e3182a43e57

PubMed ID: 23827426

Title: SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism.

PubMed ID: 23827426

DOI: 10.1016/j.pediatrneurol.2013.03.002

PubMed ID: 23988467

Title: Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy.

PubMed ID: 23988467

DOI: 10.1016/j.pediatrneurol.2013.07.004

PubMed ID: 24579881

Title: Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

PubMed ID: 24579881

DOI: 10.1111/epi.12554

PubMed ID: 24659627

Title: Confirming an expanded spectrum of SCN2A mutations: a case series.

PubMed ID: 24659627

DOI: 10.1684/epd.2014.0641

PubMed ID: 24463883

Title: Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

PubMed ID: 24463883

DOI: 10.1093/hmg/ddu030

PubMed ID: 24710820

Title: Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.

PubMed ID: 24710820

DOI: 10.1055/s-0034-1372302

PubMed ID: 25772804

Title: De novo R853Q mutation of SCN2A gene and West syndrome.

PubMed ID: 25772804

DOI: 10.1007/s13760-015-0454-8

PubMed ID: 25457084

Title: A case of recurrent encephalopathy with SCN2A missense mutation.

PubMed ID: 25457084

DOI: 10.1016/j.braindev.2014.10.001

PubMed ID: 25459969

Title: SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.

PubMed ID: 25459969

DOI: 10.1016/j.braindev.2014.10.008

PubMed ID: 25818041

Title: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PubMed ID: 25818041

DOI: 10.1111/epi.12954

PubMed ID: 25982755

Title: Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PubMed ID: 25982755

DOI: 10.1111/epi.13020

PubMed ID: 26311622

Title: Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.

PubMed ID: 26311622

DOI: 10.1016/j.eplepsyres.2015.08.001

PubMed ID: 25969726

Title: Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

PubMed ID: 25969726

DOI: 10.1186/s13229-015-0017-0

PubMed ID: 26291284

Title: SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

PubMed ID: 26291284

DOI: 10.1212/wnl.0000000000001926

PubMed ID: 26637798

Title: Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

PubMed ID: 26637798

DOI: 10.1016/j.neuron.2015.11.009

PubMed ID: 26138355

Title: Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

PubMed ID: 26138355

DOI: 10.1111/cge.12636

PubMed ID: 27328862

Title: Episodic ataxia associated with a de novo SCN2A mutation.

PubMed ID: 27328862

DOI: 10.1016/j.ejpn.2016.05.020

PubMed ID: 26993267

Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PubMed ID: 26993267

DOI: 10.1136/jmedgenet-2015-103263

PubMed ID: 27159988

Title: Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val.

PubMed ID: 27159988

DOI: 10.1007/s00415-016-8149-5

PubMed ID: 26555645

Title: Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.

PubMed ID: 26555645

DOI: 10.1097/ypg.0000000000000110

PubMed ID: 28256214

Title: Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.

PubMed ID: 28256214

DOI: 10.1016/j.biopsych.2017.01.009

PubMed ID: 28709814

Title: The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.

PubMed ID: 28709814

DOI: 10.1016/j.braindev.2017.06.003

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

PubMed ID: 28065826

Title: SCN2A p.Ala263Val Variant a Phenotype of Neonatal Seizures Followed by Paroxysmal Ataxia in Toddlers.

PubMed ID: 28065826

DOI: 10.1016/j.pediatrneurol.2016.11.008

PubMed ID: 30415926

Title: Ketogenic diet as a successful early treatment modality for SCN2A mutation.

PubMed ID: 30415926

DOI: 10.1016/j.braindev.2018.10.015

PubMed ID: 29625812

Title: SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.

PubMed ID: 29625812

DOI: 10.1016/j.braindev.2018.03.005

PubMed ID: 29635106

Title: The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing.

PubMed ID: 29635106

DOI: 10.1016/j.clineuro.2017.10.020

PubMed ID: 30062040

Title: Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.

PubMed ID: 30062040

DOI: 10.1038/s41439-018-0019-5

PubMed ID: 30144217

Title: Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.

PubMed ID: 30144217

DOI: 10.1002/humu.23619

PubMed ID: 30165711

Title: Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development.

PubMed ID: 30165711

DOI: 10.1055/s-0038-1668141

PubMed ID: 29844171

Title: Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.

PubMed ID: 29844171

DOI: 10.1073/pnas.1800077115

Sequence Information:

  • Length: 2005
  • Mass: 227975
  • Checksum: 8A421AE6C7ED9A37
  • Sequence:
    • MAQSVLVPPG PDSFRFFTRE SLAAIEQRIA EEKAKRPKQE RKDEDDENGP KPNSDLEAGK 
SLPFIYGDIP PEMVSVPLED LDPYYINKKT FIVLNKGKAI SRFSATPALY ILTPFNPIRK 
LAIKILVHSL FNMLIMCTIL TNCVFMTMSN PPDWTKNVEY TFTGIYTFES LIKILARGFC 
LEDFTFLRDP WNWLDFTVIT FAYVTEFVDL GNVSALRTFR VLRALKTISV IPGLKTIVGA 
LIQSVKKLSD VMILTVFCLS VFALIGLQLF MGNLRNKCLQ WPPDNSSFEI NITSFFNNSL 
DGNGTTFNRT VSIFNWDEYI EDKSHFYFLE GQNDALLCGN SSDAGQCPEG YICVKAGRNP 
NYGYTSFDTF SWAFLSLFRL MTQDFWENLY QLTLRAAGKT YMIFFVLVIF LGSFYLINLI 
LAVVAMAYEE QNQATLEEAE QKEAEFQQML EQLKKQQEEA QAAAAAASAE SRDFSGAGGI 
GVFSESSSVA SKLSSKSEKE LKNRRKKKKQ KEQSGEEEKN DRVRKSESED SIRRKGFRFS 
LEGSRLTYEK RFSSPHQSLL SIRGSLFSPR RNSRASLFSF RGRAKDIGSE NDFADDEHST 
FEDNDSRRDS LFVPHRHGER RHSNVSQASR ASRVLPILPM NGKMHSAVDC NGVVSLVGGP 
STLTSAGQLL PEGTTTETEI RKRRSSSYHV SMDLLEDPTS RQRAMSIASI LTNTMEELEE 
SRQKCPPCWY KFANMCLIWD CCKPWLKVKH LVNLVVMDPF VDLAITICIV LNTLFMAMEH 
YPMTEQFSSV LSVGNLVFTG IFTAEMFLKI IAMDPYYYFQ EGWNIFDGFI VSLSLMELGL 
ANVEGLSVLR SFRLLRVFKL AKSWPTLNML IKIIGNSVGA LGNLTLVLAI IVFIFAVVGM 
QLFGKSYKEC VCKISNDCEL PRWHMHDFFH SFLIVFRVLC GEWIETMWDC MEVAGQTMCL 
TVFMMVMVIG NLVVLNLFLA LLLSSFSSDN LAATDDDNEM NNLQIAVGRM QKGIDFVKRK 
IREFIQKAFV RKQKALDEIK PLEDLNNKKD SCISNHTTIE IGKDLNYLKD GNGTTSGIGS 
SVEKYVVDES DYMSFINNPS LTVTVPIAVG ESDFENLNTE EFSSESDMEE SKEKLNATSS 
SEGSTVDIGA PAEGEQPEVE PEESLEPEAC FTEDCVRKFK CCQISIEEGK GKLWWNLRKT 
CYKIVEHNWF ETFIVFMILL SSGALAFEDI YIEQRKTIKT MLEYADKVFT YIFILEMLLK 
WVAYGFQVYF TNAWCWLDFL IVDVSLVSLT ANALGYSELG AIKSLRTLRA LRPLRALSRF 
EGMRVVVNAL LGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKFYHCINYT TGEMFDVSVV 
NNYSECKALI ESNQTARWKN VKVNFDNVGL GYLSLLQVAT FKGWMDIMYA AVDSRNVELQ 
PKYEDNLYMY LYFVIFIIFG SFFTLNLFIG VIIDNFNQQK KKFGGQDIFM TEEQKKYYNA 
MKKLGSKKPQ KPIPRPANKF QGMVFDFVTK QVFDISIMIL ICLNMVTMMV ETDDQSQEMT 
NILYWINLVF IVLFTGECVL KLISLRYYYF TIGWNIFDFV VVILSIVGMF LAELIEKYFV 
SPTLFRVIRL ARIGRILRLI KGAKGIRTLL FALMMSLPAL FNIGLLLFLV MFIYAIFGMS 
NFAYVKREVG IDDMFNFETF GNSMICLFQI TTSAGWDGLL APILNSGPPD CDPDKDHPGS 
SVKGDCGNPS VGIFFFVSYI IISFLVVVNM YIAVILENFS VATEESAEPL SEDDFEMFYE 
VWEKFDPDAT QFIEFAKLSD FADALDPPLL IAKPNKVQLI AMDLPMVSGD RIHCLDILFA 
FTKRVLGESG EMDALRIQME ERFMASNPSK VSYEPITTTL KRKQEEVSAI IIQRAYRRYL 
LKQKVKKVSS IYKKDKGKEC DGTPIKEDTL IDKLNENSTP EKTDMTPSTT SPPSYDSVTK 
PEKEKFEKDK SEKEDKGKDI RESKK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.