Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SCN2A Gene

protein-coding GIFtS: 60
GCID: GC02P166095

sodium channel, voltage-gated, type II, alpha subunit

(Previous names: sodium channel, voltage-gated, type II, alpha 2 polypeptide,...)
(Previous symbols: SCN2A1, SCN2A2)

Explore 29 diseases affiliated with
SCN2A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Sodium Channel, Voltage-Gated, Type II, Alpha Subunit¹ ²		NAC2² ³
SCN2A1¹ ² ³ ⁵		HBSC II² ³
SCN2A2¹ ² ³		BFIC3² ⁵
HBSCI¹ ²		EIEE11² ⁵
HBSCII¹ ²		BFIS3²
Nav1.2¹ ²		BFNIS²
Sodium Channel, Voltage-Gated, Type II, Alpha 1 Polypeptide¹ ²		HBA²
Sodium Channel, Voltage-Gated, Type II, Alpha 2 Polypeptide¹ ²		Na(V)1.2¹
Sodium Channel Protein Brain II Subunit Alpha² ³		Sodium Channel Protein Type 2 Subunit Alpha²
Sodium Channel Protein Type II Subunit Alpha² ³		Sodium Channel Protein, Brain Type 2 Alpha Subunit²
Voltage-Gated Sodium Channel Subunit Alpha Nav1.2² ³		Voltage-Gated Sodium Channel Subtype II²

External Ids:	HGNC: 10588¹	Entrez Gene: 6326²	Ensembl: ENSG00000136531⁷	OMIM: 182390⁵	UniProtKB: Q99250³

Export aliases for SCN2A gene to outside databases

Previous GC identifers: GC02P165805 GC02P157978

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SCN2A:

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. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to

several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the

full-length nature of some of these variants has not been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SCN2A_HUMAN, Q99250

Function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed

conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel

through which Na(+) ions may pass in accordance with their electrochemical gradient

summary for SCN2A:

Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in

excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low

levels in non-excitable cells, where their physiological role is unclear. Structurally, Nav channels are

composed of one pore-forming alpha-subunit, which may be associated with either one or more beta-subunits.

alpha-subunits are composed for four homologous domains, each of which contains six transmembrane segments.

The fourth transmembrane loop (S4) acts as the 'voltage sensor' and is activated by changes in membrane

potential. S4 is also involved in channel gating.

Gene Wiki entry for SCN2A (Nav1.2)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SCN2A gene promoter:
E2F-3a E2F-5 E2F-1 E2F HOXA5 E2F-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SCN2A promoter sequence

Search SABiosciences Chromatin IP Primers for SCN2A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCN2A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q24.3 Ensembl cytogenetic band: 2q24.3 HGNC cytogenetic band: 2q24.3

SCN2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCN2A gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P166095: view genomic region (about GC identifiers)

Start:	166,095,912 bp from pter	End:	166,248,820 bp from pter
Size:	152,909 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SCN2A_HUMAN, Q99250 (See protein sequence)

Recommended Name: Sodium channel protein type 2 subunit alpha

Size: 2005 amino acids; 227975 Da

Subunit: The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence represents a large

polypeptide. Interacts with NEDD4L (By similarity)

Subcellular location: Membrane; Multi-pass membrane protein

Sequence caution: Sequence=CAA46438.1; Type=Frameshift; Positions=1953; Sequence=CAA46438.1; Type=Miscellaneous

discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part;

1 PDB 3D structure from and Proteopedia for SCN2A:

2KAV (3D)

Secondary accessions: A6NC14 A6NIQ5 Q14472 Q53T77 Q9BZC9 Q9BZD0

Alternative splicing: 2 isoforms: Q99250-1 Q99250-2

Explore the universe of human proteins at neXtProt for SCN2A: NX_Q99250

Post-translational modifications:

May be ubiquitinated by NEDD4L; which would promote its endocytosis (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q99250

SCN2A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001035232.1 NP_001035233.1 NP_066287.2

ENSEMBL proteins:

ENSP00000406454 ENSP00000283256 ENSP00000364576 ENSP00000364586 ENSP00000349973

Reactome Protein details: Q99250
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for SCN2A
	GenScript Custom Purified and Recombinant Proteins Services for SCN2A
	Novus Biologicals SCN2A Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SCN2A

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001518	voltage-gated sodium channel complex	IEA	--
GO:0005624	membrane fraction	--	--
GO:0005887	integral to plasma membrane	TAS	1325650
GO:0014704	intercalated disc	IEA	--
GO:0016021	integral to membrane	--	--

SCN2A for ontologies About GeneDecksing

SCN2A Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of SCN2A
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for SCN2A
	GenScript Custom Superior Antibodies Services for SCN2A
	Novus Biologicals SCN2A Antibodies
	Search for Antibodies for SCN2A at Abcam
	Uscn Antibodies for SCN2A
	Search ThermoFisher Antibodies for SCN2A

Assay Products for SCN2A:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SCN2A
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SCN2A

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SCN2A for domains About GeneDecksing

5 InterPro domains/families:

IPR001696 Na_channel_asu

IPR010526 Na_trans_assoc

IPR000048 IQ_motif_EF-hand-BS

IPR005821 Ion_trans_dom

IPR024583 DUF3451

Graphical View of Domain Structure for InterPro Entry Q99250

ProtoNet protein and cluster: Q99250

2 Blocks protein families:

IPB000048 IQ calmodulin-binding region

IPB001696 Voltage-gated Na+ channel alpha subunit signature

UniProtKB/Swiss-Prot: SCN2A_HUMAN, Q99250

Domain: The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively

charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively

charged amino acids at every third position

Similarity: Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily

Similarity: Contains 1 IQ domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SCN2A_HUMAN, Q99250

Function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed

conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel

through which Na(+) ions may pass in accordance with their electrochemical gradient

miRNA Products:		OriGene 3'-UTR Clone (see all 3): SCN2A Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SCN2A
		8/87 QIAGEN miScript miRNA Assays for microRNAs that regulate SCN2A (see all 87):
		hsa-miR-100* hsa-miR-520e hsa-miR-3607-3p hsa-miR-106a hsa-miR-374a hsa-miR-30d hsa-miR-371-5p hsa-miR-502-3p

		SwitchGear 3'UTR luciferase reporter plasmid: SCN2A 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SCN2A OriGene shRNA RFP: SCN2A OriGene siRNA: SCN2A
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SCN2A

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SCN2A

Clone Products:		EMD Millipore Clones for the Expression of SCN2A
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SCN2A (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SCN2A (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): SCN2A (NM_021007)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCN2A
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SCN2A

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SCN2A
		Search LifeMap BioReagents cell lines for SCN2A

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN2A

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005248	voltage-gated sodium channel activity	IEA	--

SCN2A for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69

Interaction between L1 and Ankyrins

Interaction between L1 and Ankyrins

1.00

Synaptic transmission: ion currents

Synaptic transmission: ion currents

1.00

Sodium channels and transporters: inward current

Sodium channels and transporters: inward current

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for SCN2A

	Synaptic transmission- ion currents
	Sodium channels and transporters- inward current

4 Reactome Pathways for SCN2A

	L1CAM interactions
	Developmental Biology
	Interaction between L1 and Ankyrins
	Axon guidance

SCN2A for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SCN2A

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/26 Interacting proteins for SCN2A (Q99250^{2, 3} ENSP00000283256⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARHGEF10L	Q9HCE6²^,³	MINT-64955 I2D: score=3
MPP3	Q13368²^,³	MINT-64795 I2D: score=3
RNF130	Q86XS8²^,³	MINT-64837 I2D: score=3
CALM1	P62158³	I2D: score=1
CALM2	P62158³	I2D: score=1

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006814	sodium ion transport	TAS	1325650
GO:0006915	apoptotic process	IEA	--
GO:0007399	nervous system development	--	--
GO:0042552	myelination	ISS	--

SCN2A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SCN2A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for SCN2A available from Tocris Bioscience About this table

Compound	Action	CAS #
Ralfinamide mesylate	Na+ channel blocker	[202825-45-4]
Vinpocetine	Na+ channel blocker	[42971-09-5]
QX 314 chloride	Na+ channel blocker	[5369-03-9]
Flecainide acetate	Cardiac Na+ channel blocker. Antiarrhythmic	[54143-56-5]
Tetrodotoxin citrate	Na+ channel blocker. Citrate salt of tetrodotoxin (Cat. No. 1078)	[18660-81-6]

1 HMDB Compound for SCN2A About this table

Compound	Synonyms	CAS #	PubMed Ids
Sodium	Sodium (see all 2)	7440-23-5	--

4 DrugBank Compounds for SCN2A About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Zonisamide	Zonisamida [Spanish] (see all 2)	68291-97-4	target	inhibitor	20025128 14704463 19557119 18433351 20001433 15511691 19948168
Lamotrigine	GW 273293 (see all 3)	84057-84-1	target	inhibitor	17139284 17016423 16174788
Fospropofol	--	258516-87-9	target	inhibitor	18574460
Propofol	2,6-Diisopropylphenol (see all 2)	2078-54-8	target	inhibitor	18574460

1 Novoseek chemical compound relationship for SCN2A gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sodium	54.6	1	11166117 (1)

Search CenterWatch for drugs/clinical trials and news about SCN2A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SCN2A gene (3 alternative transcripts):

NM_001040142.1 NM_001040143.1 NM_021007.2

Unigene Cluster for SCN2A:

Sodium channel, voltage-gated, type II, alpha subunit

Hs.93485 [show with all ESTs]

Unigene Representative Sequence: NM_021007

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000424833 ENST00000283256 ENST00000480032 ENST00000375427 ENST00000486878

ENST00000375437(uc002udc.3 uc002udd.3) ENST00000357398(uc002ude.3 uc021vry.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 3): SCN2A Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SCN2A
		8/87 QIAGEN miScript miRNA Assays for microRNAs that regulate SCN2A (see all 87):
		hsa-miR-100* hsa-miR-520e hsa-miR-3607-3p hsa-miR-106a hsa-miR-374a hsa-miR-30d hsa-miR-371-5p hsa-miR-502-3p

		SwitchGear 3'UTR luciferase reporter plasmid: SCN2A 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SCN2A OriGene shRNA RFP: SCN2A OriGene siRNA: SCN2A
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SCN2A

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SCN2A (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SCN2A (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): SCN2A (NM_021007)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCN2A
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SCN2A

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SCN2A Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SCN2A
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SCN2A
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SCN2A

Additional cDNA sequence:

AK289656.1 AL137498.1 DQ993531.1 JF437648.1 M91804.1 M94055.1 X65361.1

4 DOTS entries:

DT.100740790 DT.108731 DT.210911 DT.92417535

24/44 AceView cDNA sequences (see all 44):

M94055 BM680946 AW292894 NM_021007 BX094575 F04027 BX488957 N49273

BX478689 BU618561 BI488967 CK003057 AA322364 F07776 AA984063 AL120392

AI796228 BC047398 M91804 BX505276 BI752826 AW771930 BX508621 X65361

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SCN2A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGGAAAATG

About this image

SCN2A expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SCN2A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SCN2A

SOURCE GeneReport for Unigene cluster: Hs.93485

SABiosciences Expression via Pathway-Focused PCR Array including SCN2A:

Neuronal Ion Channels in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SCN2A Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SCN2A
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SCN2A
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SCN2A

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN2A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SCN2A gene from 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SCN2A¹	sodium channel, voltage-gated, type II, alpha subunit	83.59(n) 92.27(a)		395945 XM_003641597.1 XP_003641645.1
African clawed frog (Xenopus laevis)	Amphibia	scn2a2-A²	sodium channel, voltage-gated, type II, alpha 2	80.24(n)		AY121368.1
zebrafish (Danio rerio)	Actinopterygii	scn1lab¹	sodium channel, voltage-gated, type I like, alpha b	72.21(n) 81.09(a)		559447 NM_001044895.1 NP_001038360.1
fruit fly (Drosophila melanogaster)	Insecta	para⁶	paralytic	41(a)	1 → many	X(16352900-16421447)

ENSEMBL Gene Tree for SCN2A (if available)
TreeFam Gene Tree for SCN2A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SCN2A gene

CACNA1A² SCN9A² SCN5A² CACNA1D² CACNA1I² SCN7A² CACNA1F² SCN8A²

CACNA1G² SCN10A² SCN3A² CACNA1E² CACNA1S² CACNA1C² CACNA1H² SCN11A²

SCN4A² SCN1A² CACNA1B²

11 SIMAP similar genes for SCN2A using alignment to 2 protein entries: SCN2A_HUMAN (see all proteins):

SCN2A2 SCN3A SCN1A SCN9A SCN8A SCN5A

SCN4A SCN10A SCN7A SCN11A TPCN1

SCN2A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77366417^1,2		--	157976371(+)	`CATAGA/GCTATT`	1	--	us2k¹		1		EA	120
rs1446580^1,2	C,H	--	157978747(-)	`AACACG/AGTATG`	1	--	int¹		6		NS EA NA	590
rs72872405^1,2		--	157978822(+)	`AGGTAA/GAGCTT`	1	--	int¹		0	--	--	--	--
rs77471816^1,2	C,F,	--	157979493(+)	`TTAGAG/TAAATT`	1	--	int¹		1		WA	118
rs73969313^1,2	C,F,	--	157979615(+)	`GTGTGT/AGATGG`	1	--	int¹		2		WA CSA	4
rs77893720^1,2	F,	--	157979625(+)	`GTGGAG/AGTGGC`	1	--	int¹		1		WA	118
rs76307790^1,2	F,	--	157979787(+)	`GTGGAA/GTCTAT`	1	--	int¹		1		EA	120
rs75171066^1,2	C,	--	157981151(+)	`AAATTA/GGGTCA`	1	--	int¹		1		WA	118
rs78598368^1,2	F,	--	157981802(+)	`TGGGTG/AGCCTG`	1	--	int¹		1		WA	118
rs80123808^1,2	F,	--	157981814(+)	`TTTTCG/AAAATT`	1	--	int¹		1		EA	120

HapMap Linkage Disequilibrium report for SCN2A (166095912 - 166248820 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SCN2A
1 Indel: 60338
Human Gene Mutation Database (HGMD): SCN2A

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing SCN2A:

Intellectual Disability

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SCN2A

DNA2.0 Custom Variant and Variant Library Synthesis for SCN2A

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SCN2A for disorders           About GeneDecksing

OMIM gene information: 182390
OMIM disorders: 607745  613721
UniProtKB/Swiss-Prot: SCN2A_HUMAN, Q99250

Defects in SCN2A are the cause of seizures, benign familial infantile type 3 (BFIS3) [MIM:607745]. An

autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without

neurologic sequelae

Defects in SCN2A are the cause of epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721].

EIEE11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with

resultant delayed neurologic development and persistent neurologic abnormalities

20/29 diseases for SCN2A (see all 29): About MalaCards

epileptic encephalopathy, early infantile, 11 epilepsy with generalized tonic-clonic seizures seizures, benign familial infantile, 3 seizures

severe myoclonic epilepsy of infancy (smei) seizure disorder benign familial neonatal-infantile seizures generalized epilepsy with febrile seizures plus

generalized epilepsy febrile seizures temporal lobe epilepsy idiopathic generalized epilepsy

intractable epilepsy dravet syndrome sickle cell anemia episodic ataxia

peripheral neuropathy scrapie hemoglobinopathy neuronitis

5 diseases from the University of Copenhagen DISEASES database for SCN2A:

Thalassemia Scrapie Epilepsy syndrome Anemia

Sickle cell anemia

Genetic Association Database (GAD): SCN2A
Human Genome Epidemiology (HuGE) Navigator: SCN2A (10 documents)

Export disorders for SCN2A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SCN2A gene, integrated from 9 sources (see all 81):
(articles sorted by number of sources associating them with SCN2A)

Utopia: connect your pdf to the dynamic
world of online information

Differential expression of two sodium channel subtypes in human brain. (PubMed id 1317301)^{1, 2, 3} Lu C.-M.... Brown G.B. (1992)
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. (PubMed id 20371507)^{1, 2} Liao Y....Lerche H. (2010)
De novo mutations of voltage-gated sodium channel alp haII gene SCN2A in intractable epilepsies. (PubMed id 19786696)^{1, 2} Ogiwara I....Yamakawa K. (2009)
International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. (PubMed id 16382098)^{1, 3} Catterall W.A....Waxman S.G. (2005)
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. (PubMed id 15048894)^{1, 2} Berkovic S.F....Scheffer I.E. (2004)
Sodium channels SCN1A, SCN2A and SCN3A in familial autism. (PubMed id 12610651)^{1, 2} Weiss L.A.... Meisler M.H. (2003)
Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans. (PubMed id 12165424)^{1, 4} Nakayama J....Arinami T. (2002)
Sodium-channel defects in benign familial neonatal-infantile seizures. (PubMed id 12243921)^{1, 2} Heron S.E.... Scheffer I.E. (2002)
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)^{1, 2} Sugawara T.... Yamakawa K. (2001)
Genomic structures of SCN2A and SCN3A -- candidate genes for deafness at the DFNA16 locus. (PubMed id 11245985)^{1, 2} Kasai N.... Smith R.J.H. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6326	HGNC: 10588	AceView: SCN2A2	Ensembl:ENSG00000136531	euGenes: HUgn6326
ECgene: SCN2A	H-InvDB: SCN2A

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SCN2A	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCN2A

Intellectual Property for SCN2A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SCN2A gene:
Search GeneIP for patents involving SCN2A

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse Small Molecules at EMD Millipore
	Browse for Gene Knock-down Tools from EMD Millipore
	Browse Kits and Assays available from EMD Millipore
	EMD Millipore Mono- and Polyclonal Antibodies for the study of SCN2A
	EMD Millipore Clones for the Expression of SCN2A

	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for SCN2A
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SCN2A		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SCN2A
	Browse OriGene Protein Over-expression Lysates		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for SCN2A		OriGene 3'-UTR Clone for SCN2A
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SCN2A		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SCN2A
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for SCN2A		OriGene Custom Protein Services for SCN2A
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SCN2A
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SCN2A
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCN2A
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SCN2A
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SCN2A
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SCN2A

	GenScript Custom Purified and Recombinant Proteins Services for SCN2A		GenScript cDNA clones with any tag delivered in your preferred vector for SCN2A
	GenScript Custom Assay Services for SCN2A		GenScript Custom Superior Antibodies Services for SCN2A
	GenScript Custom overexpressing Cell Line Services for SCN2A		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in SCN2A promoter
	Search Chromatin IP Primers for SCN2A
	RT² qPCR Primer Assay in human, mouse, rat SCN2A
	GNC Network for SCN2A
	SABiosciences PCR Arrays including human, mouse, rat SCN2A

Tocris compounds for SCN2A

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	SCN2A antibodies
	SCN2A proteins

	Search for Antibodies for SCN2A at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for SCN2A
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

SCN2A Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for SCN2A

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN2A

	SwitchGear 3'UTR luciferase reporter plasmids for SCN2A
	SwitchGear Promoter luciferase reporter plasmids for SCN2A

Search ThermoFisher Antibodies for SCN2A

Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SCN2A

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes SCN2A gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

SCN2A Gene

sodium channel, voltage-gated, type II, alpha subunit

Aliases
for SCN2A gene

Summaries
for SCN2A gene

Genomic Views
for SCN2A gene

Proteins
for SCN2A gene

Protein Domains /
Families
for SCN2A gene

Function
for SCN2A gene

Pathways & Interactions
for SCN2A gene

Drugs & Compounds
for SCN2A gene

Transcripts
for SCN2A gene

Expression
for SCN2A gene

Orthologs
for SCN2A gene

Paralogs
for SCN2A gene

Genomic Variants
for SCN2A gene

Disorders / Diseases
for SCN2A gene

Publications
for SCN2A gene

External Searches for SCN2A gene

Genome Databases showing SCN2A gene

Other Databases showing SCN2A gene

Specialized Databases showing SCN2A gene

Intellectual Property
for SCN2A gene

Products
for SCN2A gene

View Random Gene

SCN2A (Gene Symbol)
Sodium Channel, Voltage-Gated, Type II, Alpha Subunit
SCN2A1
SCN2A2
HBSCI
HBSCII
Nav1.2
Sodium Channel, Voltage-Gated, Type II, Alpha 1 Polypeptide
Sodium Channel, Voltage-Gated, Type II, Alpha 2 Polypeptide
Sodium Channel Protein Brain II Subunit Alpha
Sodium Channel Protein Type II Subunit Alpha
Voltage-Gated Sodium Channel Subunit Alpha Nav1.2
NAC2
HBSC II
BFIC3
EIEE11
BFIS3
BFNIS
HBA
Na(V)1.2
Sodium Channel Protein Type 2 Subunit Alpha
Sodium Channel Protein, Brain Type 2 Alpha Subunit
Voltage-Gated Sodium Channel Subtype II

Advanced Search

Export list of displayed genes

SCN2A Gene

sodium channel, voltage-gated, type II, alpha subunit

Aliasesfor SCN2A gene

Summariesfor SCN2A gene

Genomic Viewsfor SCN2A gene

Proteinsfor SCN2A gene

Protein Domains /Familiesfor SCN2A gene

Functionfor SCN2A gene

Pathways & Interactionsfor SCN2A gene

Drugs & Compoundsfor SCN2A gene

Transcriptsfor SCN2A gene

Expression for SCN2A gene

Orthologsfor SCN2A gene

Paralogsfor SCN2A gene

Genomic Variantsfor SCN2A gene

Disorders / Diseasesfor SCN2A gene

Publicationsfor SCN2A gene

External Searches for SCN2A gene

Genome Databases showing SCN2A gene

Other Databases showing SCN2A gene

Specialized Databases showing SCN2A gene

Intellectual Propertyfor SCN2A gene

Productsfor SCN2A gene

View Random Gene

Aliases
for SCN2A gene

Summaries
for SCN2A gene

Genomic Views
for SCN2A gene

Proteins
for SCN2A gene

Protein Domains /
Families
for SCN2A gene

Function
for SCN2A gene

Pathways & Interactions
for SCN2A gene

Drugs & Compounds
for SCN2A gene

Transcripts
for SCN2A gene

Expression
for SCN2A gene

Orthologs
for SCN2A gene

Paralogs
for SCN2A gene

Genomic Variants
for SCN2A gene

Disorders / Diseases
for SCN2A gene

Publications
for SCN2A gene

Intellectual Property
for SCN2A gene

Products
for SCN2A gene