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Aliases for SCN3A Gene

Aliases for SCN3A Gene

  • Sodium Channel, Voltage Gated, Type III Alpha Subunit 2 3
  • Sodium Channel, Voltage-Gated, Type III, Alpha Polypeptide 2 3
  • Sodium Channel, Voltage-Gated, Type III, Alpha Subunit 2 3
  • Voltage-Gated Sodium Channel Subunit Alpha Nav1.3 3 4
  • Sodium Channel Protein Brain III Subunit Alpha 3 4
  • Sodium Channel Protein Type III Subunit Alpha 3 4
  • Voltage-Gated Sodium Channel Subtype III 3 4
  • NAC3 3 4
  • Sodium Channel Protein Type 3 Subunit Alpha 3
  • Brain III Voltage-Gated Sodium Channel 3
  • KIAA1356 4
  • Nav1.3 3

External Ids for SCN3A Gene

Summaries for SCN3A Gene

Entrez Gene Summary for SCN3A Gene

  • 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]

GeneCards Summary for SCN3A Gene

SCN3A (Sodium Channel, Voltage Gated, Type III Alpha Subunit) is a Protein Coding gene. Diseases associated with SCN3A include pain disorder and trigeminal neuralgia. Among its related pathways are L1CAM interactions and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated sodium channel activity. An important paralog of this gene is CACNA1D.

UniProtKB/Swiss-Prot for SCN3A Gene

  • 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

Tocris Summary for SCN3A Gene

  • 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 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN3A Gene

Genomics for SCN3A Gene

Genomic Location for SCN3A Gene

Start:
165,087,520 bp from pter
End:
165,204,088 bp from pter
Size:
116,569 bases
Orientation:
Minus strand

Genomic View for SCN3A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SCN3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN3A Gene

Regulatory Elements for SCN3A Gene

Proteins for SCN3A Gene

  • Protein details for SCN3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY46-SCN3A_HUMAN
    Recommended name:
    Sodium channel protein type 3 subunit alpha
    Protein Accession:
    Q9NY46
    Secondary Accessions:
    • Q16142
    • Q53SX0
    • Q9BZB3
    • Q9C006
    • Q9NYK2
    • Q9P2J1
    • Q9UPD1
    • Q9Y6P4

    Protein attributes for SCN3A Gene

    Size:
    2000 amino acids
    Molecular mass:
    226294 Da
    Quaternary structure:
    • The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence represents a large polypeptide. Interacts with NEDD4L.

    Alternative splice isoforms for SCN3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCN3A Gene

Proteomics data for SCN3A Gene at MOPED

Post-translational modifications for SCN3A Gene

  • May be ubiquitinated by NEDD4L; which would promote its endocytosis
  • Phosphorylation at Ser-1501 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn211, Asn290, Asn296, Asn302, Asn307, Asn339, Asn1366, and Asn1380

Other Protein References for SCN3A Gene

No data available for DME Specific Peptides for SCN3A Gene

Domains for SCN3A Gene

Gene Families for SCN3A Gene

HGNC:
  • SC :Sodium channels
  • SCN :Voltage-gated ion channels / Sodium channels
IUPHAR :

UniProtKB/Swiss-Prot:

SCN3A_HUMAN
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:
    • Q9NY46
  • Contains 1 IQ domain.:
    • Q9NY46
Family:
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.3/SCN3A subfamily.:
    • Q9NY46
genes like me logo Genes that share domains with SCN3A: view

Function for SCN3A Gene

Molecular function for SCN3A Gene

GENATLAS Biochemistry: sodium voltage-gated channel,type III,alpha polypeptide,expressed in brain,encoding two isoforms (neonatal and adult)
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for SCN3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005248 voltage-gated sodium channel activity NAS 9589372
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with SCN3A: view
genes like me logo Genes that share phenotypes with SCN3A: view

Animal Models for SCN3A Gene

MGI Knock Outs for SCN3A:

miRNA for SCN3A Gene

miRTarBase miRNAs that target SCN3A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SCN3A Gene

Localization for SCN3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN3A Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCN3A Gene COMPARTMENTS Subcellular localization image for SCN3A gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for SCN3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IBA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with SCN3A: view

Pathways for SCN3A Gene

genes like me logo Genes that share pathways with SCN3A: view

Gene Ontology (GO) - Biological Process for SCN3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006814 sodium ion transport NAS 9589372
GO:0019228 neuronal action potential IBA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0035725 sodium ion transmembrane transport NAS 9589372
genes like me logo Genes that share ontologies with SCN3A: view

Compounds for SCN3A Gene

(5) Tocris Compounds for SCN3A Gene

Compound Action Cas Number
Phrixotoxin 3 Potent modulator of NaV1.2, NaV1.3 and NaV1.5 channels [880886-00-0]
QX 314 chloride Na+ channel blocker [5369-03-9]
Tetrodotoxin Na+ channel blocker [4368-28-9]
Tetrodotoxin citrate Na+ channel blocker. Citrate salt of tetrodotoxin (Cat. No. 1078) [18660-81-6]
Veratridine Voltage-gated Na+ channel opener [71-62-5]

(1) HMDB Compounds for SCN3A Gene

Compound Synonyms Cas Number PubMed IDs
Sodium
  • Sodium
7440-23-5

(2) Drugbank Compounds for SCN3A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Lacosamide
  • Erlosamide
175481-36-4 target
Zonisamide
  • Zonisamida [Spanish]
68291-97-4 target inhibitor

(7) IUPHAR Ligand for SCN3A Gene

Ligand Type Action Affinity Pubmed IDs
tetrodotoxin Pore Blocker Antagonist 7.6
AFT-II Gating inhibitor Antagonist 7.5
ATX-II Gating inhibitor Antagonist 7.3
Bc-III Gating inhibitor Antagonist 6.1
saxitoxin Channel blocker None
veratridine Activator None
batrachotoxin Activator None

(1) Novoseek inferred chemical compound relationships for SCN3A Gene

Compound -log(P) Hits PubMed IDs
sodium 54.6 4
genes like me logo Genes that share compounds with SCN3A: view

Transcripts for SCN3A Gene

Unigene Clusters for SCN3A Gene

Sodium channel, voltage-gated, type III, alpha subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SCN3A Gene

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:
SP6:
SP7:
SP8: -
SP9: -

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b · 26c ^ 27 ^ 28 ^ 29
SP1: -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:

Relevant External Links for SCN3A Gene

GeneLoc Exon Structure for
SCN3A
ECgene alternative splicing isoforms for
SCN3A

Expression for SCN3A Gene

mRNA expression in normal human tissues for SCN3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCN3A Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (4.9) and Brain - Hypothalamus (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SCN3A Gene

SOURCE GeneReport for Unigene cluster for SCN3A Gene Hs.435274

genes like me logo Genes that share expressions with SCN3A: view

Orthologs for SCN3A Gene

This gene was present in the common ancestor of animals.

Orthologs for SCN3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN3A 36
  • 99.78 (n)
  • 99.95 (a)
SCN3A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SCN3A 36
  • 93.61 (n)
  • 97.5 (a)
SCN3A 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCN3A 36
  • 93.68 (n)
  • 97.75 (a)
SCN3A 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scn3a 36
  • 89.57 (n)
  • 97.43 (a)
Scn3a 16
Scn3a 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCN3A 37
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCN3A 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scn3a 36
  • 89.34 (n)
  • 97.23 (a)
chicken
(Gallus gallus)
Aves SCN3A 36
  • 83.02 (n)
  • 89.89 (a)
SCN3A 37
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCN3A 37
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488621 36
  • 77.26 (n)
  • 84.46 (a)
zebrafish
(Danio rerio)
Actinopterygii scn1lab 37
  • 78 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta NaCP60E 38
  • 63 (a)
para 38
  • 50 (a)
Species with no ortholog for SCN3A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SCN3A Gene

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

Paralogs for SCN3A Gene

genes like me logo Genes that share paralogs with SCN3A: view

Variants for SCN3A Gene

Sequence variations from dbSNP and Humsavar for SCN3A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1158135 -- 165,123,803(+) TAGAA(C/T)TCATT intron-variant
rs1347992 -- 165,105,355(-) TATTA(A/G)TGGGA intron-variant
rs1371585 -- 165,109,731(-) GGGAT(C/G)TGACC intron-variant
rs1439991 -- 165,113,199(-) CTTTA(A/G)ATTTT intron-variant
rs1439992 -- 165,112,228(-) CTGAC(G/T)TGCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SCN3A Gene

Variant ID Type Subtype PubMed ID
nsv511183 CNV Gain 21212237
esv2666303 CNV Deletion 23128226
nsv435715 CNV Deletion 17901297
esv2554394 CNV Deletion 19546169
esv2721067 CNV Deletion 23290073
esv7053 CNV Loss 19470904
esv25924 CNV Loss 19812545
esv992100 CNV Gain 20482838
esv2667791 CNV Deletion 23128226
nsv213574 CNV Loss 16902084
nsv821783 CNV Loss 20364138
esv2585640 CNV Deletion 19546169
esv2673049 CNV Deletion 23128226

Relevant External Links for SCN3A Gene

HapMap Linkage Disequilibrium report
SCN3A
Human Gene Mutation Database (HGMD)
SCN3A

Disorders for SCN3A Gene

Relevant External Links for SCN3A

Genetic Association Database (GAD)
SCN3A
Human Genome Epidemiology (HuGE) Navigator
SCN3A
genes like me logo Genes that share disorders with SCN3A: view

No data available for UniProtKB/Swiss-Prot for SCN3A Gene

Publications for SCN3A Gene

  1. Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31. (PMID: 8159690) Malo M.S. … Ingram V.M. (Proc. Natl. Acad. Sci. U.S.A. 1994) 3 4 23
  2. Isolation of a human-brain sodium-channel gene encoding two isoforms of the subtype III alpha-subunit. (PMID: 9589372) Lu C.M. … Brown G.B. (J. Mol. Neurosci. 1998) 2 3 4
  3. 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. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  4. Genomic structures of SCN2A and SCN3A -- candidate genes for deafness at the DFNA16 locus. (PMID: 11245985) Kasai N. … Smith R.J.H. (Gene 2001) 3 4
  5. Cloning, distribution and functional analysis of the type III sodium channel from human brain. (PMID: 11122339) Chen Y.H. … Clare J.J. (Eur. J. Neurosci. 2000) 3 23

Products for SCN3A Gene

  • antibodies-online proteins for SCN3A
  • antibodies-online antibodies for SCN3A
  • antibodies-online kits for SCN3A

Sources for SCN3A Gene

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