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Aliases for SCN11A Gene

Aliases for SCN11A Gene

  • Sodium Voltage-Gated Channel Alpha Subunit 11 2 3
  • Sodium Channel, Voltage Gated, Type XI Alpha Subunit 2 3 5
  • 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
  • PN5 3 4
  • Sodium Channel, Voltage-Gated, Type XII, Alpha Polypeptide 3
  • Sodium Channel, Voltage-Gated, Type XII, Alpha 2
  • NAV1.9 3
  • FEPS3 3
  • HSAN7 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 Voltage-Gated Channel Alpha Subunit 11) is a Protein Coding gene. Diseases associated with SCN11A include episodic pain syndrome, familial, 3 and neuropathy, hereditary sensory and autonomic, type vii. Among its related pathways are Cardiac conduction and Developmental Biology. GO annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is CACNA1G.

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.

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

Chromosome:
3
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

Genes around SCN11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 290, Asn 338, Asn 781, Asn 1209, Asn 1216, Asn 1222, Asn 1230, and Asn 1568
  • Modification sites at PhosphoSitePlus

Other Protein References for SCN11A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SCN11A (SCN11A)

No data available for DME Specific Peptides for SCN11A Gene

Domains & Families for SCN11A Gene

Gene Families for SCN11A Gene

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

Human Phenotype Ontology for SCN11A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCN11A Gene

MGI Knock Outs for SCN11A:

Animal Model Products

miRNA for SCN11A Gene

miRTarBase miRNAs that target SCN11A

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
extracellular 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SCN11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SCN11A: view

Pathways & Interactions 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:0019228 neuronal action potential IBA --
GO:0042493 response to drug TAS 10623608
GO:0051930 regulation of sensory perception of pain ISS --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SCN11A: view

No data available for SIGNOR curated interactions for SCN11A Gene

Drugs & Compounds for SCN11A Gene

(33) Drugs for SCN11A Gene - From: DGIdb, Tocris, ApexBio, DrugBank, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cocaine Approved, Illicit Pharma inhibitor, Target 454
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 65
Valproic Acid Approved, Investigational Pharma Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 311
Benzocaine Approved Pharma 1684
Carbamazepine Approved, Investigational Pharma 118

(4) Additional Compounds for SCN11A Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
Amiloride hydrochloride
2016-88-8
Flunarizine dihydrochloride
30484-77-6
Riluzole hydrochloride
850608-87-6
genes like me logo Genes that share compounds with SCN11A: view

Transcripts for SCN11A Gene

mRNA/cDNA for SCN11A Gene

(5) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(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 (x6.8), Testis (x4.4), and Bladder (x4.4).

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 expression patterns with SCN11A: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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 36
  • 99 (a)
OneToOne
SCN11A 35
  • 99.03 (n)
  • 98.49 (a)
cow
(Bos Taurus)
Mammalia SCN11A 35
  • 84.26 (n)
  • 78.42 (a)
SCN11A 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCN11A 36
  • 81 (a)
OneToOne
SCN11A 35
  • 86.14 (n)
  • 81.74 (a)
mouse
(Mus musculus)
Mammalia Scn11a 35
  • 77.83 (n)
  • 74.57 (a)
Scn11a 36
  • 74 (a)
OneToOne
Scn11a 16
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

(11) 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
rs4234132 -- 38,902,235(+) TTCTG(A/G)GATGC intron-variant
rs4234133 -- 38,846,530(+) AGTAT(C/T)ATTTA utr-variant-3-prime
rs4234134 -- 38,846,479(+) TATTA(A/T)AATAG utr-variant-3-prime
rs4297988 -- 38,931,955(+) GGAAA(A/T)GTACA intron-variant
rs4073113 -- 38,904,069(-) CCTTG(C/T)GGAGA reference, synonymous-codon

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

Variation tolerance for SCN11A Gene

Residual Variation Intolerance Score: 2.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.74% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(15) MalaCards diseases for SCN11A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
episodic pain syndrome, familial, 3
  • familial episodic pain syndrome 3
neuropathy, hereditary sensory and autonomic, type vii
  • hereditary sensory and autonomic neuropathy type 7
familial episodic pain syndrome with predominantly lower limb involvement
erythromelalgia
  • mitchell disease
episodic pain syndrome, familial
  • familial episodic pain syndrome
- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:26645915}. 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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCN11A
genes like me logo Genes that share disorders with SCN11A: view

No data available for Genatlas for SCN11A Gene

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 67
  2. Zonisamide in the treatment of epilepsy. (PMID: 20001433) Schulze-Bonhage A. (Expert Opin Pharmacother 2010) 25 26
  3. The antiepileptic drug zonisamide inhibits MAO-B and attenuates MPTP toxicity in mice: clinical relevance. (PMID: 19948168) Sonsalla P.K. … Buckley B. (Exp. Neurol. 2010) 25 26
  4. Long-term safety and effectiveness of zonisamide in the treatment of epilepsy: a review of the literature. (PMID: 19557119) Zaccara G. … Specchio L.M. (Neuropsychiatr Dis Treat 2009) 25 26
  5. [Role of zonisamid in treating epilepsy, Parkinson disorders and other neurological diseases]. (PMID: 20025128) Janszky J. (Ideggyogy Sz 2009) 25 26

Products for SCN11A Gene

Sources for SCN11A Gene

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