SCN11A Gene (Protein Coding)

Sodium Voltage-Gated Channel Alpha Subunit 11

GC03M038862
GIFtS:
42
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 highly expressed i... See more...

Aliases for SCN11A Gene

Aliases for SCN11A Gene

  • Sodium Voltage-Gated Channel Alpha Subunit 11 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 11 Subunit Alpha 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
  • SNS-2 2 3
  • NaN 2 3
  • PN5 3 4
  • Sodium Channel, Voltage-Gated, Type XII, Alpha Polypeptide 3
  • Sodium Channel, Voltage Gated, Type XI Alpha Subunit 2
  • Sodium Channel, Voltage-Gated, Type XII, Alpha 2
  • NAV1.9 3
  • SCN11A 5
  • Nav1.9 2
  • FEPS3 3
  • HSAN7 3
  • SNS2 4
  • HNaN 4

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 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 highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

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 Neuropathic Pain-Signaling in Dorsal Horn Neurons. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is SCN5A.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SCN11A Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCN11A Gene

Genomics for SCN11A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SCN11A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCN11A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SCN11A

Top Transcription factor binding sites by QIAGEN in the SCN11A gene promoter:
  • AREB6
  • C/EBPalpha
  • CUTL1
  • Evi-1
  • FOXI1
  • GR
  • GR-alpha
  • HFH-3
  • MEF-2A
  • STAT5B

Genomic Locations for SCN11A Gene

Latest Assembly
chr3:38,845,764-39,052,157
(GRCh38/hg38)
Size:
206,394 bases
Orientation:
Minus strand

Previous Assembly
chr3:38,887,255-39,093,435
(GRCh37/hg19 by Entrez Gene)
Size:
206,181 bases
Orientation:
Minus strand

chr3:38,887,260-38,992,052
(GRCh37/hg19 by Ensembl)
Size:
104,793 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 Structure • Gene Density

RefSeq DNA sequence for SCN11A Gene

Proteins for SCN11A Gene

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  • 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

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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SCN11A Gene

Domains & Families for SCN11A Gene

Gene Families for SCN11A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for SCN11A Gene

InterPro:
Blocks:
  • Voltage-gated Na+ channel alpha subunit signature

Suggested Antigen Peptide Sequences for SCN11A Gene

GenScript: Design optimal peptide antigens:
  • Voltage-gated sodium channel NAV1.9 (Q86XP4_HUMAN)
  • Voltage-gated sodium channel NaN (Q9UKU5_HUMAN)
  • hNaN (SCNBA_HUMAN)

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

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Molecular function for SCN11A Gene

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.
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

Phenotypes From GWAS Catalog for SCN11A Gene

Gene Ontology (GO) - Molecular Function for SCN11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005248 voltage-gated sodium channel activity TAS,IBA 21873635
GO:0005261 cation channel activity IEA --
GO:0005272 sodium channel activity IEA --
genes like me logo Genes that share ontologies with SCN11A: view
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 Models for research

miRNA for SCN11A Gene

miRTarBase miRNAs that target SCN11A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCN11A

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

Localization for SCN11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN11A Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCN11A gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SCN11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IBA 21873635
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030424 axon ISS --
genes like me logo Genes that share ontologies with SCN11A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SCN11A Gene

Pathways & Interactions for SCN11A Gene

PathCards logo

SuperPathways for SCN11A Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
PKA Signaling
.56
2 Neuropathic Pain-Signaling in Dorsal Horn Neurons
Aldosterone Signaling in Epithelial Cells
.47
Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
Cholera Infection
.40
3 Developmental Biology
Axon guidance
.51
Developmental Biology
.51
4 Cardiac conduction
Cardiac conduction
.70
Muscle contraction
.70
5 Neuroscience
Neuroscience
-
genes like me logo Genes that share pathways with SCN11A: view

Pathways by source for SCN11A Gene

7 Qiagen pathways for SCN11A Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • cAMP Pathway
  • Cholera Infection
  • GHRH Signaling
1 Cell Signaling Technology pathway for SCN11A Gene

SIGNOR curated interactions for SCN11A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SCN11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport TAS --
GO:0019228 neuronal action potential IBA 21873635
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0035725 sodium ion transmembrane transport IBA 21873635
genes like me logo Genes that share ontologies with SCN11A: view

Drugs & Compounds for SCN11A Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cocaine Approved, Illicit Pharma Target, inhibitor 616
Zonisamide Approved, Investigational Pharma Target, inhibitor, blocker Antiepileptic with anticonvulsant and mechanistic effect 78
Carbamazepine Approved, Investigational Pharma Target, inhibitor Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 109
Lamotrigine Approved, Investigational Pharma Target, inhibitor 5-HT inhibitor 206
Oxcarbazepine Approved Pharma Target, inhibitor BTX inhibitor 64

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
 7440-23-5
Amiloride hydrochloride
2016-88-8

(3) Tocris Compounds for SCN11A Gene

Compound Action Cas Number
Amiloride hydrochloride Na+ channel blocker; also I2 imidazoline ligand 2016-88-8
Carbamazepine Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 298-46-4
Vinpocetine Na+ channel blocker 42971-09-5

(26) ApexBio Compounds for SCN11A Gene

Compound Action Cas Number
A-803467 NaV1.8 channel blocker,potent and selective 944261-79-4
Ambroxol HCl TTX-resistant Na+ currents inhibitor 23828-92-4
Amiloride HCl 2016-88-8
Amiloride HCl dihydrate 17440-83-4
Benzocaine 1994-09-7
Bupivacaine HCl Anaesthetic drug 18010-40-7
Camostat Mesilate Trypsin-like protease inhibitor 59721-29-8
Carbamazepine 298-46-4
Dibucaine (Cinchocaine) HCl 1961-12-1
Ibutilide Fumarate Class III antiarrhythmic agent 122647-32-9
Lamotrigine 5-HT inhibitor 84057-84-1
Levobupivacaine HCl 27262-48-2
Mexiletine HCl 5370-01-4
Nefopam HCl 23327-57-3
Ouabain 630-60-4
Oxcarbazepine BTX inhibitor 28721-07-5
Phenytoin 57-41-0
Phenytoin sodium Sodium channel stabilizer 630-93-3
Primidone 125-33-7
Procainamide HCl 614-39-1
Procaine HCl 1951-05-8
Propafenone HCl 34183-22-7
Proparacaine HCl 5875-06-9
Riluzole Sodium channel protein inhibitor 1744-22-5
Tolperisone HCl 3644-61-9
Triamterene 396-01-0
genes like me logo Genes that share compounds with SCN11A: view

Drug products for research

Transcripts for SCN11A Gene

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mRNA/cDNA for SCN11A Gene

3 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCN11A

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

No ASD Table

Relevant External Links for SCN11A Gene

GeneLoc Exon Structure for
SCN11A

Expression for SCN11A Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SCN11A Gene

mRNA expression in normal human tissues for SCN11A Gene
mRNA expression by BioGPS for SCN11A GenemRNA expression by GTEx 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SCN11A

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.

Evidence on tissue expression from TISSUES for SCN11A Gene

  • Nervous system(4.5)
  • Muscle(2.3)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN11A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • salivary gland
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with SCN11A: view

Primer products for research

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 29 30
  • 99.03 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SCN11A 29 30
  • 86.14 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SCN11A 29 30
  • 84.26 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Scn11a 29 16 30
  • 77.83 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Scn11a 29
  • 77.78 (n)
Oppossum
(Monodelphis domestica)
 Mammalia SCN11A 30
  • 68 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SCN11A 30
  • 54 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SCN11A 30
  • 49 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii scn1a 30
  • 45 (a)
 ManyToMany
CABZ01063402.1 30
  • 45 (a)
 ManyToMany
Species where no ortholog for SCN11A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SCN11A: view image
Alliance of Genome Resources:
Additional Orthologs for SCN11A

Paralogs for SCN11A Gene

Paralogs for SCN11A Gene

(11) SIMAP similar genes for SCN11A Gene using alignment to 2 proteins:

  • SCNBA_HUMAN
  • Q9UKU5_HUMAN
genes like me logo Genes that share paralogs with SCN11A: view

Variants for SCN11A Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SCN11A Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1000171 Uncertain Significance: Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 38,950,106(-) C/T
NM_001349253.2(SCN11A):c.257G>A (p.Arg86Gln) 		MISSENSE
1000258 Uncertain Significance: Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 38,896,961(-) G/A
NM_001349253.2(SCN11A):c.2287C>T (p.Arg763Cys) 		MISSENSE
1001012 Uncertain Significance: Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 38,847,656(-) G/A
NM_001349253.2(SCN11A):c.4414C>T (p.Arg1472Ter) 		NONSENSE
1001271 Uncertain Significance: Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 38,847,449(-) T/C
NM_001349253.2(SCN11A):c.4621A>G (p.Met1541Val) 		MISSENSE
1002213 Uncertain Significance: Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 38,885,342(-) C/T
NM_001349253.2(SCN11A):c.3010G>A (p.Gly1004Arg) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SCN11A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv769e201 CNV deletion 23290073
dgv885e214 CNV loss 21293372
esv1088777 CNV deletion 17803354
esv2574623 CNV deletion 19546169
esv2725165 CNV deletion 23290073
esv2725166 CNV deletion 23290073
esv2725167 CNV deletion 23290073
esv2725170 CNV deletion 23290073
esv2725171 CNV deletion 23290073
esv2725172 CNV deletion 23290073
esv2725173 CNV deletion 23290073
esv2759141 CNV loss 17122850
esv29050 CNV loss 19812545
esv3349812 CNV insertion 20981092
esv3595916 CNV gain 21293372
nsv955555 CNV deletion 24416366

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)

Additional Variant Information for SCN11A Gene

Human Gene Mutation Database (HGMD)
SCN11A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCN11A
Leiden Open Variation Database (LOVD)
SCN11A

SNP Genotyping and Copy Number Assays for research

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

Disorders for SCN11A Gene

MalaCards: The human disease database

(34) MalaCards diseases for SCN11A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants 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, ECO:0000269 PubMed:24776970, ECO:0000269 PubMed:25791876, ECO:0000269 PubMed:27224030}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SCN11A

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Open Targets Platform
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Publications for SCN11A Gene

  1. Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. (PMID: 24776970) Huang J … PROPANE Study Group (Brain : a journal of neurology 2014) 3 4 72
  2. Gain-of-function mutations in SCN11A cause familial episodic pain. (PMID: 24207120) Zhang XY … Liu JY (American journal of human genetics 2013) 3 4 72
  3. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. (PMID: 24036948) Leipold E … Kurth I (Nature genetics 2013) 3 4 72
  4. Familial episodic limb pain in kindreds with novel Nav1.9 mutations. (PMID: 30557356) Kabata R … Koizumi A (PloS one 2018) 3 72
  5. Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor. (PMID: 28298626) Leng XR … Wang YP (Journal of human genetics 2017) 3 72

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