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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SCN3A Gene

protein-coding GIFtS: 61
GCID: GC02M165908

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

(Previous names: sodium channel, voltage-gated, type III, alpha polypeptide...)

Explore 6 diseases affiliated with
SCN3A 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 III, Alpha Subunit¹ ²		Voltage-Gated Sodium Channel Subunit Alpha Nav1.3² ³
Nav1.3¹ ²		NAC3² ³
Sodium Channel, Voltage-Gated, Type III, Alpha Polypeptide¹ ²		Brain III Voltage-Gated Sodium Channel²
Sodium Channel Protein Brain III Subunit Alpha² ³		Sodium Channel Protein Type 3 Subunit Alpha²
Sodium Channel Protein Type III Subunit Alpha² ³		KIAA1356³
Voltage-Gated Sodium Channel Subtype III² ³

External Ids:	HGNC: 10590¹	Entrez Gene: 6328²	Ensembl: ENSG00000153253⁷	OMIM: 182391⁵	UniProtKB: Q9NY46³

Export aliases for SCN3A gene to outside databases

Previous GC identifers: GC02M163999 GC02M164485 GC02M166146 GC02M165769 GC02M165652 GC02M157826

(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 SCN3A:

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, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript

variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SCN3A_HUMAN, Q9NY46

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 SCN3A:

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 SCN3A

(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 SCN3A gene promoter:
GR Sox5 GR-beta E47 AREB6 NRF-2 POU2F1 POU2F1a Sox9 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SCN3A promoter sequence

Search SABiosciences Chromatin IP Primers for SCN3A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCN3A

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

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

SCN3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCN3A gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M165908: view genomic region (about GC identifiers)

Start:	165,944,030 bp from pter	End:	166,060,577 bp from pter
Size:	116,548 bases	Orientation:	minus 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: SCN3A_HUMAN, Q9NY46 (See protein sequence)

Recommended Name: Sodium channel protein type 3 subunit alpha

Size: 2000 amino acids; 226294 Da

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

polypeptide. Interacts with NEDD4L

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: Q16142 Q53SX0 Q9BZB3 Q9C006 Q9NYK2 Q9P2J1 Q9UPD1 Q9Y6P4

Alternative splicing: 4 isoforms: Q9NY46-1 Q9NY46-2 Q9NY46-3 Q9NY46-4

Explore the universe of human proteins at neXtProt for SCN3A: NX_Q9NY46

Post-translational modifications:

May be ubiquitinated by NEDD4L; which would promote its endocytosis¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NY46

SCN3A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001075145.1 NP_001075146.1 NP_008853.3

ENSEMBL proteins:

ENSP00000283254 ENSP00000386726 ENSP00000403348 ENSP00000391569 ENSP00000353206

ENSP00000439920

Reactome Protein details: Q9NY46
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	Browse Proteins at Uscn

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001518	voltage-gated sodium channel complex	NAS	--
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	IEA	--
GO:0016021	integral to membrane	--	--

SCN3A for ontologies About GeneDecksing

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	GenScript Custom Assay Services for SCN3A
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

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

SCN3A 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 Q9NY46

ProtoNet protein and cluster: Q9NY46

2 Blocks protein families:

IPB000048 IQ calmodulin-binding region

IPB001696 Voltage-gated Na+ channel alpha subunit signature

UniProtKB/Swiss-Prot: SCN3A_HUMAN, Q9NY46

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. Nav1.3/SCN3A 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: SCN3A_HUMAN, Q9NY46

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

Genatlas biochemistry entry for SCN3A:

sodium voltage-gated channel,type III,alpha polypeptide,expressed in brain,encoding two isoforms (neonatal and adult)

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN3A

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005216	ion channel activity	--	--
GO:0005248	voltage-gated sodium channel activity	NAS	9589372

SCN3A for ontologies About GeneDecksing

Animal Models:
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Scn3a):

behavior/neurological

growth/size

homeostasis/metabolism

mortality/aging

SCN3A for phenotypes 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 - 5/6 super-pathways (see all 6) 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

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			PKA Signaling	0.56
	cAMP Pathway	0.77

Neuropathic Pain-Signaling in Dorsal Horn Neurons

	Neuropathic Pain-Signaling in Dorsal Horn Neurons	1.00			Cholera Infection	0.40
	Aldosterone Signaling in Epithelial Cells	0.47

Interaction between L1 and Ankyrins

Interaction between L1 and Ankyrins

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

1 EMD Millipore Pathway for SCN3A

Sodium channels and transporters- inward current

5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SCN3A (see all 7)

	Cholera Infection
	Neuropathic Pain-Signaling in Dorsal Horn Neurons
	PKA Signaling
	cAMP Pathway
	Aldosterone Signaling in Epithelial Cells

4 Reactome Pathways for SCN3A

	L1CAM interactions
	Developmental Biology
	Interaction between L1 and Ankyrins
	Axon guidance

SCN3A for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SCN3A

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/19 Interacting proteins for SCN3A (Q9NY46³ ENSP00000283254⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM1	P62158³	I2D: score=1
CALM2	P62158³	I2D: score=1
CALM3	P62158³	I2D: score=1
LRP1	Q07954³, ENSP00000243077⁴	I2D: score=2 STRING: ENSP00000243077
LRP2	P98164³, ENSP00000263816⁴	I2D: score=1 STRING: ENSP00000263816

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006814	sodium ion transport	NAS	9589372

SCN3A 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

SCN3A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for SCN3A 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 SCN3A About this table

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

1 DrugBank Compound for SCN3A 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

1 Novoseek chemical compound relationship for SCN3A gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sodium	54.6	4	8159690 (1), 8015391 (1), 11122339 (1), 16550174 (1)

Search CenterWatch for drugs/clinical trials and news about SCN3A

(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 SCN3A gene (3 alternative transcripts):

NM_001081676.1 NM_001081677.1 NM_006922.3

Unigene Cluster for SCN3A:

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

Hs.435274 [show with all ESTs]

Unigene Representative Sequence: NM_006922

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

ENST00000283254(uc002ucx.3 uc002ucy.3) ENST00000409101(uc002udb.1)

ENST00000465043 ENST00000471697 ENST00000440431(uc002uda.1) ENST00000484898

ENST00000485054 ENST00000453007 ENST00000360093(uc010zcy.2 uc002ucz.3)

ENST00000540861

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		hsa-miR-548j hsa-miR-4291 hsa-miR-3607-3p hsa-miR-4328 hsa-miR-15a hsa-miR-30d hsa-miR-507 hsa-miR-223

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Additional cDNA sequence:

AB037777.1 AF035685.1 AF035686.1 AF225986.1 AF225987.1 AF239921.1 AJ251507.1 AJ276139.1

AJ276140.1 AJ277394.1 AK299757.1 AK301853.1 DQ993536.1 DQ993537.1 DQ993538.1

4 DOTS entries:

DT.202774 DT.100742352 DT.65285907 DT.40122710

24/40 AceView cDNA sequences (see all 40):

AW341281 BX281223 AJ276139 BE327347 AB037777 AJ277394 AJ276140 AA973965

AI457246 H23297 AJ251507 BM681920 AF239921 AW341288 AF225987 AF035685

BQ941318 BP349283 AL706368 AV702029 AF225986 CD623432 AW341282 BM728972

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SCN3A (see all 9) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	·	4c	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14a	·	14b	^	15	^	16a	·	16b	^	17	^	18	^	19	^
SP1:																																	-						-
SP2:
SP3:
SP4:
SP5:

ExUns:	20	^	21	^	22	^	23	^	24a	·	24b	·	24c	^	25a	·	25b	^	26a	·	26b	·	26c	^	27	^	28	^	29
SP1:									-
SP2:									-				-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for SCN3A

(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

SCN3A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTCCAACTTT

About this image

SCN3A expression in embryonic tissues and stem cells

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

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Head Mesenchyme

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SCN3A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SCN3A

SOURCE GeneReport for Unigene cluster: Hs.435274

SABiosciences Expression via Pathway-Focused PCR Array including SCN3A:

Neuronal Ion Channels in human mouse rat

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In Situ
Assay Products:

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(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 SCN3A gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SCN3A¹	sodium channel, voltage-gated, type III, alpha subunit	83.51(n) 90.25(a)		424180 XM_003641605.1 XP_003641653.1
lizard (Anolis carolinensis)	Reptilia	SCN3A⁶	--	87(a)	1 ↔ 1	GL343214.1(1520472-1609235)
zebrafish (Danio rerio)	Actinopterygii	scn1lab⁶ scn1a⁶	sodium channel, voltage-gated, type I, alpha	78(a) 67(a)	many ↔ many many ↔ many	6(10158986-10231330) 9(50902616-50972365)
fruit fly (Drosophila melanogaster)	Insecta	NaCP60E³	sodium ion transport voltage-gated sodium channel	63(a) (best of 2)		60E5 --

ENSEMBL Gene Tree for SCN3A (if available)
TreeFam Gene Tree for SCN3A (if available)

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

Paralogs for SCN3A gene

CACNA1A² SCN9A² SCN5A² CACNA1D² CACNA1I² SCN7A² CACNA1F² SCN8A²

CACNA1G² SCN10A² CACNA1E² SCN2A² CACNA1S² CACNA1C² CACNA1H² SCN11A²

SCN4A² SCN1A² CACNA1B²

18/23 SIMAP similar genes for SCN3A using alignment to 7 protein entries: SCN3A_HUMAN (see all proteins) (see all similar genes):

SCN2A SCN2A2 SCN1A SCN9A SCN8A SCN4A

SCN5A SCN10A CACNA1I SCN7A CACNA1E CACNA1S

CACNA1A CACNA1B CACNA1C SCN11A CACNA1D CACNA1G

SCN3A 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)
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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
				--	--	--		--	--
rs183744767^1,2		--	165943669(+)	`GCCACC/TGCGCC`	3	--	ds500¹		0	--	--	--	--
rs144584707^1,2		--	165943671(+)	`CACCGC/TGCCCA`	3	--	ds500¹		0	--	--	--	--
rs187245005^1,2		--	165943734(+)	`GGAAGA/TAGTTA`	3	--	ds500¹		0	--	--	--	--
rs192521643^1,2		--	165944032(+)	`GAATTC/TCAATT`	3	--	ut3¹		0	--	--	--	--
rs147539071^1,2		--	165944098(+)	`ATTGTC/GTTTAA`	3	--	ut3¹		0	--	--	--	--
rs73969173^1,2	C,	--	165944376(+)	`GAAAGC/GTATTG`	3	--	ut3¹		2		WA	120
rs116581753^1,2	C,F,	--	165944558(+)	`NNNNTC/AAGATC`	3	--	ut3¹		1		NA	120
rs140141054^1,2		--	165944640(+)	`GGCCAA/GTAAGT`	3	--	ut3¹		0	--	--	--	--
rs76576164^1,2		--	165944939(+)	`CATACG/ATAAAT`	3	--	ut3¹		1		WA	118
rs114119868^1,2		--	165944992(+)	`TTATAT/CTGAGG`	3	--	ut3¹		1		NA	120

HapMap Linkage Disequilibrium report for SCN3A (165944030 - 166060577 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for SCN3A
6 CNVs: 98045 22988 98046 61852 6009 63229
1 Indel: 60337
Human Gene Mutation Database (HGMD): SCN3A

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing SCN3A:

Intellectual Disability

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SCN3A

DNA2.0 Custom Variant and Variant Library Synthesis for SCN3A

(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.)
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SCN3A for disorders           About GeneDecksing

OMIM gene information: 182391    OMIM disorders: --

6 diseases for SCN3A:    About MalaCards

spinal cord injury trigeminal neuralgia erythromelalgia neuronitis

brain disease malaria

1 disease from the University of Copenhagen DISEASES database for SCN3A:

Epilepsy syndrome

Human Genome Epidemiology (HuGE) Navigator: SCN3A (4 documents)

Export disorders for SCN3A 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)
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PubMed articles for SCN3A gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with SCN3A)

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Isolation of a human-brain sodium-channel gene encoding two isoforms of the subtype III alpha-subunit. (PubMed id 9589372)^{1, 2, 3} Lu C.M. and Brown G.B. (1998)
Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31. (PubMed id 8159690)^{1, 2, 9} Malo M.S....Ingram V.M. (1994)
Molecular determinants of voltage-gated sodium channel regulation by the Nedd4/Nedd4-like proteins. (PubMed id 15548568)^{1, 2} Rougier J.-S....Abriel H. (2005)
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)
Sodium channels SCN1A, SCN2A and SCN3A in familial autism. (PubMed id 12610651)^{1, 2} Weiss L.A.... Meisler M.H. (2003)
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)
Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)^{1, 2} Nagase T.... Ohara O. (2000)
Cloning, distribution and functional analysis of the type III sodium channel from human brain. (PubMed id 11122339)^{1, 9} Chen Y.H....Clare J.J. (2000)
Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. (PubMed id 23016767)¹ Goeggel Simonetti B....Lemke J.R. (2012)
Upregulated expression of voltage-gated sodium channel Nav1.3 in cortical lesions of patients with focal cortical dysplasia type IIb. (PubMed id 22494998)¹ Yu S....Yang H. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6328	HGNC: 10590	AceView: SCN3A	Ensembl:ENSG00000153253	euGenes: HUgn6328
ECgene: SCN3A	H-InvDB: SCN3A

(According to HUGE)
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HUGE: KIAA1356

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SCN3A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SCN3A gene
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Patent Information for SCN3A gene:
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GeneCards and IP:
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SCN3A Gene

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

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SCN3A Gene

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

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