Human Gene SCN3A (ENST00000283254.12_8) from GENCODE V47lift37
  Description: sodium voltage-gated channel alpha subunit 3, transcript variant 1 (from RefSeq NM_006922.4)
Gencode Transcript: ENST00000283254.12_8
Gencode Gene: ENSG00000153253.20_20
Transcript (Including UTRs)
   Position: hg19 chr2:165,944,036-166,060,560 Size: 116,525 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg19 chr2:165,946,660-166,032,904 Size: 86,245 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:165,944,036-166,060,560)mRNA (may differ from genome)Protein (2000 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
Human Cortex Gene ExpressionMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SCN3A_HUMAN
DESCRIPTION: RecName: Full=Sodium channel protein type 3 subunit alpha; AltName: Full=Sodium channel protein brain III subunit alpha; AltName: Full=Sodium channel protein type III subunit alpha; AltName: Full=Voltage-gated sodium channel subtype III; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.3;
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.
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.
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.
PTM: May be ubiquitinated by NEDD4L; which would promote its endocytosis.
SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.3/SCN3A subfamily.
SIMILARITY: Contains 1 IQ domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SCN3A
Diseases sorted by gene-association score: scn3a-related focal epilepsy susceptibility* (100), trigeminal neuralgia (16), deafness, autosomal dominant 16 (8), focal epilepsy (5), epileptic encephalopathy, early infantile, 6 (5), generalized epilepsy with febrile seizures plus (5), trigeminal nerve disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D012964 Sodium
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C489827 2,3,5,6-tetrafluoro-4-methylbenzyl (Z)-(1RS)-cis-3-(2-chloro-3,3,3-trifluoroprop-1-enyl)-2,2-dimethylcyclopropanecarboxylate
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000643 Ammonium Chloride
  • D001151 Arsenic
  • D002737 Chloroprene
  • D004997 Ethinyl Estradiol
  • D005419 Flavonoids
  • D007545 Isoproterenol
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.59 RPKM in Brain - Hypothalamus
Total median expression: 61.48 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -118.77475-0.250 Picture PostScript Text
3' UTR -554.402624-0.211 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024583 - DUF3451
IPR005821 - Ion_trans_dom
IPR000048 - IQ_motif_EF-hand-BS
IPR001696 - Na_channel_asu
IPR010526 - Na_trans_assoc

Pfam Domains:
PF00520 - Ion transport protein
PF06512 - Sodium ion transport-associated
PF08016 - Polycystin cation channel
PF11933 - Cytoplasmic domain of voltage-gated Na+ ion channel

SCOP Domains:
47473 - EF-hand
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on Q9NY46
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005248 voltage-gated sodium channel activity
GO:0005272 sodium channel activity

Biological Process:
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0019228 neuronal action potential
GO:0034220 ion transmembrane transport
GO:0034765 regulation of ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0055085 transmembrane transport
GO:0086010 membrane depolarization during action potential

Cellular Component:
GO:0001518 voltage-gated sodium channel complex
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AB037777 - Homo sapiens mRNA for KIAA1356 protein, partial cds.
AF225986 - Homo sapiens voltage-gated sodium channel alpha subunit splice variant SCN3A-s (SCN3A) mRNA, complete cds, alternatively spliced.
AF225987 - Homo sapiens voltage-gated sodium channel alpha subunit SCN3A (SCN3A) mRNA, complete cds.
JD286326 - Sequence 267350 from Patent EP1572962.
JD202339 - Sequence 183363 from Patent EP1572962.
JD316565 - Sequence 297589 from Patent EP1572962.
JD282451 - Sequence 263475 from Patent EP1572962.
JD433496 - Sequence 414520 from Patent EP1572962.
JD566386 - Sequence 547410 from Patent EP1572962.
JD063257 - Sequence 44281 from Patent EP1572962.
JD239441 - Sequence 220465 from Patent EP1572962.
JD315851 - Sequence 296875 from Patent EP1572962.
JD548211 - Sequence 529235 from Patent EP1572962.
AJ251507 - Homo sapiens mRNA for type III sodium channel protein (SCN3A gene).
JD549914 - Sequence 530938 from Patent EP1572962.
JD100133 - Sequence 81157 from Patent EP1572962.
JD527581 - Sequence 508605 from Patent EP1572962.
JD059613 - Sequence 40637 from Patent EP1572962.
AK301853 - Homo sapiens cDNA FLJ51367 complete cds, highly similar to Sodium channel protein type 3 subunit alpha.
JD459652 - Sequence 440676 from Patent EP1572962.
JD377930 - Sequence 358954 from Patent EP1572962.
BC172215 - Synthetic construct Homo sapiens clone IMAGE:9094296 sodium channel, voltage-gated, type III, alpha isoform 1 (SCN3A) gene, partial cds.
AF239921 - Homo sapiens brain type III sodium channel alpha subunit (SCN3a) mRNA, partial cds.
AF035685 - Homo sapiens voltage-gated sodium channel, subtype III (SCN3A) mRNA, alternatively spliced neonatal isoform, partial cds.
AF035686 - Homo sapiens voltage-gated sodium channel, subtype III (SCN3A) mRNA, alternatively spliced adult isoform, partial cds.
JD025850 - Sequence 6874 from Patent EP1572962.
JD028844 - Sequence 9868 from Patent EP1572962.
AK299757 - Homo sapiens cDNA FLJ60859 complete cds, highly similar to Sodium channel protein type 3 subunit alpha.
AJ276139 - Homo sapiens partial mRNA for brain III voltage-gated sodium channel (SCN3A gene), cell line PC-3.
AJ276140 - Homo sapiens partial mRNA for brain III voltage-gated sodium channel (SCN3A gene), cell line LNCaP.
AJ277394 - Homo sapiens partial mRNA for voltage-gated sodium channel (SCN3A gene).
JD448927 - Sequence 429951 from Patent EP1572962.
DQ993537 - Homo sapiens clone h3b voltage-gated sodium channel type III (SCN3A) mRNA, 5' UTR, alternatively spliced.
JD360753 - Sequence 341777 from Patent EP1572962.
JD198655 - Sequence 179679 from Patent EP1572962.
DQ993536 - Homo sapiens clone h3a voltage-gated sodium channel type III (SCN3A) mRNA, 5' UTR, alternatively spliced.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NY46 (Reactome details) participates in the following event(s):

R-HSA-373739 Ankyrins link voltage-gated sodium and potassium channels to spectrin and L1
R-HSA-5576895 SCNAs:SNCBs transport Na+ from extracellular region to cytosol
R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-373760 L1CAM interactions
R-HSA-5576891 Cardiac conduction
R-HSA-422475 Axon guidance
R-HSA-397014 Muscle contraction
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000283254.1, ENST00000283254.10, ENST00000283254.11, ENST00000283254.2, ENST00000283254.3, ENST00000283254.4, ENST00000283254.5, ENST00000283254.6, ENST00000283254.7, ENST00000283254.8, ENST00000283254.9, KIAA1356, NAC3, NM_006922, Q16142, Q53SX0, Q9BZB3, Q9C006, Q9NY46, Q9NYK2, Q9P2J1, Q9UPD1, Q9Y6P4, SCN3A_HUMAN, uc317kcb.1, uc317kcb.2
UCSC ID: ENST00000283254.12_8
RefSeq Accession: NM_006922.4
Protein: Q9NY46 (aka SCN3A_HUMAN or CIN3_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SCN3A:
scn3a-ndd (SCN3A-Related Neurodevelopmental Disorder)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.