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Aliases for SCN11A Gene

Aliases for SCN11A Gene

  • Sodium Channel, Voltage Gated, Type XI Alpha Subunit 2 3
  • Sodium Channel, Voltage-Gated, Type XI, Alpha Polypeptide 2 3
  • Sodium Channel, Voltage-Gated, Type XI, Alpha Subunit 2 3
  • Voltage-Gated Sodium Channel Subunit Alpha Nav1.9 3 4
  • Sodium Channel Protein Type XI Subunit Alpha 3 4
  • Peripheral Nerve Sodium Channel 5 3 4
  • Sensory Neuron Sodium Channel 2 3 4
  • SCN12A 3 4
  • FEPS3 3 6
  • HSAN7 3 6
  • PN5 3 4
  • Sodium Channel, Voltage-Gated, Type XII, Alpha Polypeptide 3
  • Sodium Channel, Voltage-Gated, Type XII, Alpha 2
  • Sodium Channel Protein Type 11 Subunit Alpha 3
  • NAV1.9 3
  • SNS-2 3
  • SNS2 4
  • HNaN 4
  • NaN 3

External Ids for SCN11A Gene

Previous HGNC Symbols for SCN11A Gene

  • SCN12A

Previous GeneCards Identifiers for SCN11A Gene

  • GC03U990114
  • GC03P038198
  • GC03M038700
  • GC03M038847

Summaries for SCN11A Gene

Entrez Gene Summary for SCN11A Gene

  • Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.[supplied by OMIM, Apr 2004]

GeneCards Summary for SCN11A Gene

SCN11A (Sodium Channel, Voltage Gated, Type XI Alpha Subunit) is a Protein Coding gene. Diseases associated with SCN11A include neuropathy, hereditary sensory and autonomic, type vii and episodic pain syndrome, familial, 3. Among its related pathways are Activation of cAMP-Dependent PKA 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 SCN11A Gene

  • This protein 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 sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization.

Tocris Summary for SCN11A 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 SCN11A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN11A Gene

Genomics for SCN11A Gene

Regulatory Elements for SCN11A Gene

Genomic Location for SCN11A Gene

Start:
38,845,769 bp from pter
End:
38,953,651 bp from pter
Size:
107,883 bases
Orientation:
Minus strand

Genomic View for SCN11A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SCN11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN11A Gene

Proteins for SCN11A Gene

  • Protein details for SCN11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UI33-SCNBA_HUMAN
    Recommended name:
    Sodium channel protein type 11 subunit alpha
    Protein Accession:
    Q9UI33
    Secondary Accessions:
    • A6NN05
    • C9JD48
    • C9JR31
    • Q68K15
    • Q8NDX3
    • Q9UHE0
    • Q9UHM0

    Protein attributes for SCN11A Gene

    Size:
    1791 amino acids
    Molecular mass:
    204922 Da
    Quaternary structure:
    • The voltage-resistant sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more auxiliary subunits SCN1B, SCN2B and SCN3B

    Alternative splice isoforms for SCN11A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCN11A Gene

Proteomics data for SCN11A Gene at MOPED

Post-translational modifications for SCN11A Gene

  • Phosphorylation at Ser-1341 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.
  • Glycosylation at Asn290, Asn338, Asn781, Asn1209, Asn1216, Asn1222, Asn1230, and Asn1568
  • Modification sites at PhosphoSitePlus

Other Protein References for SCN11A Gene

No data available for DME Specific Peptides for SCN11A Gene

Domains for SCN11A Gene

Gene Families for SCN11A Gene

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

Suggested Antigen Peptide Sequences for SCN11A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UI33

UniProtKB/Swiss-Prot:

SCNBA_HUMAN :
  • Q9UI33
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
Family:
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.9/SCN11A subfamily.
genes like me logo Genes that share domains with SCN11A: view

Function for SCN11A Gene

Molecular function for SCN11A Gene

GENATLAS Biochemistry: sodium channel voltage-gated,type XI,alpha polypeptide,preferentially expressed in small diametre sensory neurons of dorsal root ganglia and trigeminal ganglia,resistant to tetrodoxin
UniProtKB/Swiss-Prot Function: This protein 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 sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization.

Gene Ontology (GO) - Molecular Function for SCN11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005248 voltage-gated sodium channel activity IBA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with SCN11A: view

Phenotypes for SCN11A Gene

genes like me logo Genes that share phenotypes with SCN11A: view

Animal Models for SCN11A Gene

MGI Knock Outs for SCN11A:

miRNA for SCN11A Gene

miRTarBase miRNAs that target SCN11A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SCN11A Gene

Localization for SCN11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN11A Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCN11A Gene COMPARTMENTS Subcellular localization image for SCN11A gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for SCN11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IEA --
GO:0005886 plasma membrane IBA --
GO:0016020 membrane --
GO:0030424 axon --
GO:0044299 C-fiber IEA --
genes like me logo Genes that share ontologies with SCN11A: view

Pathways for SCN11A Gene

genes like me logo Genes that share pathways with SCN11A: view

Interacting Proteins for SCN11A Gene

Gene Ontology (GO) - Biological Process for SCN11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006814 sodium ion transport TAS 10623608
GO:0008219 cell death --
GO:0019228 neuronal action potential IBA --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with SCN11A: view

Compounds for SCN11A Gene

(5) Tocris Compounds for SCN11A Gene

Compound Action Cas Number
Flecainide acetate Cardiac Na+ channel blocker. Antiarrhythmic [54143-56-5]
QX 314 bromide Na+ channel blocker [24003-58-5]
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]

(1) HMDB Compounds for SCN11A Gene

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

(2) Drugbank Compounds for SCN11A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cocaine
  • (−)-cocaine
50-36-2 target inhibitor
Zonisamide
  • Zonisamida [Spanish]
68291-97-4 target inhibitor

(1) IUPHAR Ligand for SCN11A Gene

Ligand Type Action Affinity Pubmed IDs
tetrodotoxin Pore Blocker Antagonist 7.6
genes like me logo Genes that share compounds with SCN11A: view

Transcripts for SCN11A Gene

mRNA/cDNA for SCN11A Gene

(5) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(5) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SCN11A Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for SCN11A Gene

No ASD Table

Relevant External Links for SCN11A Gene

GeneLoc Exon Structure for
SCN11A
ECgene alternative splicing isoforms for
SCN11A

Expression for SCN11A Gene

mRNA expression in normal human tissues for SCN11A Gene

mRNA differential expression in normal tissues according to GTEx for SCN11A Gene

This gene is overexpressed in Spleen (6.8), Testis (4.4), and Bladder (4.4).

SOURCE GeneReport for Unigene cluster for SCN11A Gene Hs.591657

mRNA Expression by UniProt/SwissProt for SCN11A Gene

Q9UI33-SCNBA_HUMAN
Tissue specificity: Expressed in the dorsal root ganglia and trigeminal ganglia, olfactory bulb, hippocampus, cerebellar cortex, spinal cord, spleen, small intestine and placenta.
genes like me logo Genes that share expressions with SCN11A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein expression for SCN11A Gene

Orthologs for SCN11A Gene

This gene was present in the common ancestor of chordates.

Orthologs for SCN11A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN11A 35
  • 99.03 (n)
  • 98.49 (a)
SCN11A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SCN11A 35
  • 84.26 (n)
  • 78.42 (a)
SCN11A 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCN11A 35
  • 86.14 (n)
  • 81.74 (a)
SCN11A 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scn11a 35
  • 77.83 (n)
  • 74.57 (a)
Scn11a 16
Scn11a 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCN11A 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCN11A 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scn11a 35
  • 77.78 (n)
  • 75.04 (a)
chicken
(Gallus gallus)
Aves SCN11A 36
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CABZ01063402.1 36
  • 45 (a)
ManyToMany
scn1a 36
  • 45 (a)
ManyToMany
Species with no ortholog for SCN11A:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SCN11A Gene

ENSEMBL:
Gene Tree for SCN11A (if available)
TreeFam:
Gene Tree for SCN11A (if available)

Paralogs for SCN11A Gene

Selected SIMAP similar genes for SCN11A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SCN11A: view

Variants for SCN11A Gene

Sequence variations from dbSNP and Humsavar for SCN11A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs3924830 -- 38,869,606(+) TTTAT(A/G)ATGAC intron-variant
rs3924831 -- 38,869,823(+) cagat(C/T)acgga intron-variant
rs4073113 -- 38,904,069(-) CCTTG(C/T)GGAGA synonymous-codon, reference
rs4076478 -- 38,954,041(-) AAGGA(C/T)CATAC upstream-variant-2KB
rs4077939 -- 38,872,078(-) TACTT(A/C)CCAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SCN11A Gene

Variant ID Type Subtype PubMed ID
nsv876711 CNV Gain 21882294
esv2725165 CNV Deletion 23290073
esv2574623 CNV Deletion 19546169
esv2725166 CNV Deletion 23290073
esv2725167 CNV Deletion 23290073
esv1088777 CNV Deletion 17803354
dgv816e201 CNV Deletion 23290073
esv2725170 CNV Deletion 23290073
esv2725171 CNV Deletion 23290073
esv2725172 CNV Deletion 23290073
esv2725173 CNV Deletion 23290073
dgv1449e1 CNV Complex 17122850
esv29050 CNV Loss 19812545

Relevant External Links for SCN11A Gene

HapMap Linkage Disequilibrium report
SCN11A
Human Gene Mutation Database (HGMD)
SCN11A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN11A Gene

Disorders for SCN11A Gene

(2) OMIM Diseases for SCN11A Gene (604385)

UniProtKB/Swiss-Prot

SCNBA_HUMAN
  • Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) [MIM:615548]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction. {ECO:0000269 PubMed:24036948}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]: An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue. {ECO:0000269 PubMed:24207120}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SCN11A

Genetic Association Database (GAD)
SCN11A
genes like me logo Genes that share disorders with SCN11A: view

Publications for SCN11A Gene

  1. Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A. (PMID: 10623608) Jeong S.-Y. … Kanazawa I. (Biochem. Biophys. Res. Commun. 2000) 3 4 23
  2. Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN. (PMID: 10444332) Dib-Hajj S.D. … Waxman S.G. (Genomics 1999) 2 3
  3. Two tetrodotoxin-resistant sodium channels in human dorsal root ganglion neurons. (PMID: 10580103) Dib-Hajj S.D. … Waxman S.G. (FEBS Lett. 1999) 3 4
  4. Neurotrophin-evoked depolarization requires the sodium channel Nav1.9. (PMID: 12384689) Blum R. … Konnerth A. (Nature 2002) 3 4
  5. Na+ channel Nav1.9: in search of a gating mechanism. (PMID: 12536125) Delmas P. … Coste B. (Trends Neurosci. 2003) 3 4

Products for SCN11A Gene

  • antibodies-online proteins for SCN11A
  • antibodies-online antibodies for SCN11A
  • antibodies-online kits for SCN11A

Sources for SCN11A Gene

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