Details for: SCN9A

Gene ID: 6335

Symbol: SCN9A

Ensembl ID: ENSG00000169432

Description: sodium voltage-gated channel alpha subunit 9

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 134.0446
    Cell Significance Index: -20.8500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 70.7292
    Cell Significance Index: -17.9400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 43.4823
    Cell Significance Index: -17.6700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 16.9349
    Cell Significance Index: -20.8800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 5.2552
    Cell Significance Index: 115.0700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 4.1726
    Cell Significance Index: 34.0300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.4132
    Cell Significance Index: -7.4700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.1011
    Cell Significance Index: 95.2400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.7206
    Cell Significance Index: 617.1500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.5474
    Cell Significance Index: 95.1100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.4379
    Cell Significance Index: 994.4800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.4000
    Cell Significance Index: 33.5800
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 1.3565
    Cell Significance Index: 14.1300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.2777
    Cell Significance Index: 66.5600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.0816
    Cell Significance Index: 126.0500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.8614
    Cell Significance Index: 32.6200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.8476
    Cell Significance Index: 12.7000
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.7888
    Cell Significance Index: 10.2300
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.7349
    Cell Significance Index: 9.0900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.6776
    Cell Significance Index: 29.9700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6045
    Cell Significance Index: 65.7600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5825
    Cell Significance Index: 116.8500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5618
    Cell Significance Index: 111.5000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5425
    Cell Significance Index: 32.5700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5200
    Cell Significance Index: 84.5700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3488
    Cell Significance Index: 10.0500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3261
    Cell Significance Index: 294.4900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2461
    Cell Significance Index: 17.0200
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.2400
    Cell Significance Index: 2.9900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.2241
    Cell Significance Index: 3.7800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1737
    Cell Significance Index: 1.6000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1683
    Cell Significance Index: 32.0300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0891
    Cell Significance Index: 16.0600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0753
    Cell Significance Index: 7.4500
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0727
    Cell Significance Index: 0.6000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0718
    Cell Significance Index: 4.0300
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: 0.0467
    Cell Significance Index: 0.5900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.0424
    Cell Significance Index: 0.9000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.0420
    Cell Significance Index: 0.8300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0302
    Cell Significance Index: 1.0600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0257
    Cell Significance Index: 47.4500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0114
    Cell Significance Index: 17.5600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0062
    Cell Significance Index: 8.4800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0015
    Cell Significance Index: 0.9500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0018
    Cell Significance Index: -0.3000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0082
    Cell Significance Index: -15.4500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0083
    Cell Significance Index: -6.1200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0087
    Cell Significance Index: -6.5900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0093
    Cell Significance Index: -5.8200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0126
    Cell Significance Index: -0.3200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0138
    Cell Significance Index: -0.3000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0248
    Cell Significance Index: -13.9800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0261
    Cell Significance Index: -11.5300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0267
    Cell Significance Index: -19.5500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0348
    Cell Significance Index: -19.0200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0419
    Cell Significance Index: -0.8700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0425
    Cell Significance Index: -8.9600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0433
    Cell Significance Index: -19.6300
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: -0.0458
    Cell Significance Index: -0.3700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0563
    Cell Significance Index: -16.1900
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: -0.0609
    Cell Significance Index: -0.6600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0733
    Cell Significance Index: -1.0500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0763
    Cell Significance Index: -8.7400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0785
    Cell Significance Index: -8.0200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0820
    Cell Significance Index: -10.5100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0849
    Cell Significance Index: -12.3400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0903
    Cell Significance Index: -11.1000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1041
    Cell Significance Index: -7.0000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1272
    Cell Significance Index: -2.7100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1416
    Cell Significance Index: -19.4500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1567
    Cell Significance Index: -11.0800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1592
    Cell Significance Index: -2.3500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1638
    Cell Significance Index: -18.7000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1669
    Cell Significance Index: -21.5600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1799
    Cell Significance Index: -5.8900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1977
    Cell Significance Index: -12.1200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1987
    Cell Significance Index: -20.6900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1996
    Cell Significance Index: -15.3200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2221
    Cell Significance Index: -11.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2438
    Cell Significance Index: -7.8100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.2472
    Cell Significance Index: -10.7500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2566
    Cell Significance Index: -7.1700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2615
    Cell Significance Index: -20.7100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2685
    Cell Significance Index: -8.5500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2763
    Cell Significance Index: -20.5900
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.2928
    Cell Significance Index: -4.5300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2988
    Cell Significance Index: -13.9300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.3127
    Cell Significance Index: -3.4000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3312
    Cell Significance Index: -8.8600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3344
    Cell Significance Index: -6.9800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3410
    Cell Significance Index: -22.0000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3483
    Cell Significance Index: -21.9500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3551
    Cell Significance Index: -12.4400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3666
    Cell Significance Index: -7.3600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3785
    Cell Significance Index: -9.7300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3904
    Cell Significance Index: -20.5000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3919
    Cell Significance Index: -9.7800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.4020
    Cell Significance Index: -10.5700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4082
    Cell Significance Index: -19.1900
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.4201
    Cell Significance Index: -5.9700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The SCN9A gene is a single-copy gene that is highly conserved across species, with a high degree of sequence similarity to other VGSC genes. The encoded protein, Peripheral sodium channel 1 (PNAC1), is a transmembrane protein that consists of six voltage-sensing domains (VSDs) and four pore-forming domains (PFDs). The VSDs are responsible for detecting changes in membrane potential, while the PFDs form the ion-conducting pore through which sodium ions flow. **Pathways and Functions** The SCN9A gene is involved in several key pathways, including: 1. **Sensory perception**: The SCN9A gene is expressed in sensory neurons, where it plays a critical role in the transmission of pain, temperature, and mechanical stimuli. 2. **Cardiac conduction**: The SCN9A gene is expressed in cardiac neurons, where it regulates the electrical activity of the heart and is involved in the generation of action potentials in cardiac muscle cells. 3. **Neurotransmission**: The SCN9A gene is expressed in various types of neurons, including GABAergic and dopaminergic neurons, where it regulates the release of neurotransmitters. 4. **Muscle contraction**: The SCN9A gene is expressed in skeletal muscle cells, where it regulates the electrical activity of muscle fibers and is involved in the generation of action potentials. The SCN9A gene functions as a voltage-gated sodium channel, which is essential for the generation and propagation of action potentials. The channel's activity is regulated by the binding of voltage-sensing domains to changes in membrane potential, which triggers the opening of the ion-conducting pore and the flow of sodium ions. **Clinical Significance** Dysregulation of the SCN9A gene has been implicated in various neurological and cardiac disorders, including: 1. **Chronic pain**: Mutations in the SCN9A gene have been associated with chronic pain syndromes, including neuropathic pain and fibromyalgia. 2. **Cardiac arrhythmias**: Mutations in the SCN9A gene have been associated with cardiac arrhythmias, including long QT syndrome and Brugada syndrome. 3. **Neurological disorders**: The SCN9A gene has been implicated in various neurological disorders, including epilepsy, migraines, and Parkinson's disease. 4. **Sensory disorders**: The SCN9A gene has been implicated in sensory disorders, including sensory neuropathy and neuropathic pain. In conclusion, the SCN9A gene plays a critical role in the regulation of electrical activity in neurons and muscle cells, and its dysregulation has been implicated in various neurological and cardiac disorders. Further research is needed to fully understand the mechanisms by which the SCN9A gene regulates electrical activity and the clinical significance of its dysregulation.

Genular Protein ID: 2437668193

Symbol: SCN9A_HUMAN

Name: Peripheral sodium channel 1

UniProtKB Accession Codes:

Q15858 A1BUH5 Q6B4R9 Q6B4S0 Q6B4S1 Q70HX1 Q70HX2 Q8WTU1 Q8WWN4

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 4 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 22 DrugCentral 1 EMBL 13 EMDB 23 Ensembl 4 ExpressionAtlas 1 GO 15 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 39 PDBsum 39 PIR 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 3 RefSeq 5 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7720699

Title: Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells.

PubMed ID: 7720699

DOI: 10.1002/j.1460-2075.1995.tb07091.x

PubMed ID: 17167479

Title: An SCN9A channelopathy causes congenital inability to experience pain.

PubMed ID: 17167479

DOI: 10.1038/nature05413

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15302875

Title: Expression of alternatively spliced sodium channel alpha-subunit genes: unique splicing patterns are observed in dorsal root ganglia.

PubMed ID: 15302875

DOI: 10.1074/jbc.m406387200

PubMed ID: 14985375

Title: Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.

PubMed ID: 14985375

DOI: 10.1136/jmg.2003.012153

PubMed ID: 9169448

Title: A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia.

PubMed ID: 9169448

DOI: 10.1074/jbc.272.23.14805

PubMed ID: 15178348

Title: Voltage-gated sodium channel expressed in cultured human smooth muscle cells: involvement of SCN9A.

PubMed ID: 15178348

DOI: 10.1016/j.febslet.2004.04.092

PubMed ID: 20855463

Title: The tarantula toxins ProTx-II and huwentoxin-IV differentially interact with human Nav1.7 voltage sensors to inhibit channel activation and inactivation.

PubMed ID: 20855463

DOI: 10.1124/mol.110.066332

PubMed ID: 21659528

Title: Common molecular determinants of tarantula huwentoxin-IV inhibition of Na+ channel voltage sensors in domains II and IV.

PubMed ID: 21659528

DOI: 10.1074/jbc.m111.246876

PubMed ID: 21887265

Title: Isolation and characterization of CvIV4: a pain inducing alpha-scorpion toxin.

PubMed ID: 21887265

DOI: 10.1371/journal.pone.0023520

PubMed ID: 23077250

Title: Marked difference in saxitoxin and tetrodotoxin affinity for the human nociceptive voltage-gated sodium channel (Nav1.7) [corrected].

PubMed ID: 23077250

DOI: 10.1073/pnas.1206952109

PubMed ID: 25240195

Title: Protein kinase C enhances human sodium channel hNav1.7 resurgent currents via a serine residue in the domain III-IV linker.

PubMed ID: 25240195

DOI: 10.1016/j.febslet.2014.09.011

PubMed ID: 24497506

Title: A disulfide tether stabilizes the block of sodium channels by the conotoxin muO[section sign]-GVIIJ.

PubMed ID: 24497506

DOI: 10.1073/pnas.1324189111

PubMed ID: 28428547

Title: The tarantula toxin beta/delta-TRTX-Pre1a highlights the importance of the S1-S2 voltage-sensor region for sodium channel subtype selectivity.

PubMed ID: 28428547

DOI: 10.1038/s41598-017-01129-0

PubMed ID: 31647222

Title: Fluorescence imaging of peripheral nerves by a Nav1.7-targeted inhibitor cystine knot peptide.

PubMed ID: 31647222

DOI: 10.1021/acs.bioconjchem.9b00612

PubMed ID: 37117223

Title: Pain-causing stinging nettle toxins target TMEM233 to modulate NaV1.7 function.

PubMed ID: 37117223

DOI: 10.1038/s41467-023-37963-2

PubMed ID: 26680203

Title: Structural basis of Nav1.7 inhibition by an isoform-selective small-molecule antagonist.

PubMed ID: 26680203

DOI: 10.1126/science.aac5464

PubMed ID: 30661758

Title: Structural basis of Nav1.7 inhibition by a gating-modifier spider toxin.

PubMed ID: 30661758

DOI: 10.1016/j.cell.2018.12.018

PubMed ID: 30765606

Title: Structures of human Nav1.7 channel in complex with auxiliary subunits and animal toxins.

PubMed ID: 30765606

DOI: 10.1126/science.aaw2493

PubMed ID: 15385606

Title: Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

PubMed ID: 15385606

DOI: 10.1523/jneurosci.2695-04.2004

PubMed ID: 16216943

Title: Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.

PubMed ID: 16216943

DOI: 10.1001/archneur.62.10.1587

PubMed ID: 15958509

Title: Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

PubMed ID: 15958509

DOI: 10.1093/brain/awh514

PubMed ID: 15955112

Title: SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.

PubMed ID: 15955112

DOI: 10.1111/j.0022-202x.2005.23737.x

PubMed ID: 16392115

Title: Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

PubMed ID: 16392115

DOI: 10.1002/ana.20776

PubMed ID: 16988069

Title: Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.

PubMed ID: 16988069

DOI: 10.1212/01.wnl.0000231514.33603.1e

PubMed ID: 17145499

Title: SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

PubMed ID: 17145499

DOI: 10.1016/j.neuron.2006.10.006

PubMed ID: 16702558

Title: A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.

PubMed ID: 16702558

DOI: 10.1073/pnas.0602813103

PubMed ID: 18945915

Title: NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.

PubMed ID: 18945915

DOI: 10.1523/jneurosci.3443-08.2008

PubMed ID: 19369487

Title: Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.

PubMed ID: 19369487

DOI: 10.1093/brain/awp078

PubMed ID: 19763161

Title: A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

PubMed ID: 19763161

DOI: 10.1371/journal.pgen.1000649

PubMed ID: 20635406

Title: Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.

PubMed ID: 20635406

DOI: 10.1002/humu.21325

PubMed ID: 25285947

Title: p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.

PubMed ID: 25285947

DOI: 10.1097/aln.0000000000000476

PubMed ID: 24311784

Title: Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.

PubMed ID: 24311784

DOI: 10.1074/jbc.m113.502211

PubMed ID: 33216760

Title: No association between SCN9A and monogenic human epilepsy disorders.

PubMed ID: 33216760

DOI: 10.1371/journal.pgen.1009161

Sequence Information:

  • Length: 1988
  • Mass: 226372
  • Checksum: 1BAEB8F32EBF5438
  • Sequence:
    • MAMLPPPGPQ SFVHFTKQSL ALIEQRIAER KSKEPKEEKK DDDEEAPKPS SDLEAGKQLP 
FIYGDIPPGM VSEPLEDLDP YYADKKTFIV LNKGKTIFRF NATPALYMLS PFSPLRRISI 
KILVHSLFSM LIMCTILTNC IFMTMNNPPD WTKNVEYTFT GIYTFESLVK ILARGFCVGE 
FTFLRDPWNW LDFVVIVFAY LTEFVNLGNV SALRTFRVLR ALKTISVIPG LKTIVGALIQ 
SVKKLSDVMI LTVFCLSVFA LIGLQLFMGN LKHKCFRNSL ENNETLESIM NTLESEEDFR 
KYFYYLEGSK DALLCGFSTD SGQCPEGYTC VKIGRNPDYG YTSFDTFSWA FLALFRLMTQ 
DYWENLYQQT LRAAGKTYMI FFVVVIFLGS FYLINLILAV VAMAYEEQNQ ANIEEAKQKE 
LEFQQMLDRL KKEQEEAEAI AAAAAEYTSI RRSRIMGLSE SSSETSKLSS KSAKERRNRR 
KKKNQKKLSS GEEKGDAEKL SKSESEDSIR RKSFHLGVEG HRRAHEKRLS TPNQSPLSIR 
GSLFSARRSS RTSLFSFKGR GRDIGSETEF ADDEHSIFGD NESRRGSLFV PHRPQERRSS 
NISQASRSPP MLPVNGKMHS AVDCNGVVSL VDGRSALMLP NGQLLPEVII DKATSDDSGT 
TNQIHKKRRC SSYLLSEDML NDPNLRQRAM SRASILTNTV EELEESRQKC PPWWYRFAHK 
FLIWNCSPYW IKFKKCIYFI VMDPFVDLAI TICIVLNTLF MAMEHHPMTE EFKNVLAIGN 
LVFTGIFAAE MVLKLIAMDP YEYFQVGWNI FDSLIVTLSL VELFLADVEG LSVLRSFRLL 
RVFKLAKSWP TLNMLIKIIG NSVGALGNLT LVLAIIVFIF AVVGMQLFGK SYKECVCKIN 
DDCTLPRWHM NDFFHSFLIV FRVLCGEWIE TMWDCMEVAG QAMCLIVYMM VMVIGNLVVL 
NLFLALLLSS FSSDNLTAIE EDPDANNLQI AVTRIKKGIN YVKQTLREFI LKAFSKKPKI 
SREIRQAEDL NTKKENYISN HTLAEMSKGH NFLKEKDKIS GFGSSVDKHL MEDSDGQSFI 
HNPSLTVTVP IAPGESDLEN MNAEELSSDS DSEYSKVRLN RSSSSECSTV DNPLPGEGEE 
AEAEPMNSDE PEACFTDGCV WRFSCCQVNI ESGKGKIWWN IRKTCYKIVE HSWFESFIVL 
MILLSSGALA FEDIYIERKK TIKIILEYAD KIFTYIFILE MLLKWIAYGY KTYFTNAWCW 
LDFLIVDVSL VTLVANTLGY SDLGPIKSLR TLRALRPLRA LSRFEGMRVV VNALIGAIPS 
IMNVLLVCLI FWLIFSIMGV NLFAGKFYEC INTTDGSRFP ASQVPNRSEC FALMNVSQNV 
RWKNLKVNFD NVGLGYLSLL QVATFKGWTI IMYAAVDSVN VDKQPKYEYS LYMYIYFVVF 
IIFGSFFTLN LFIGVIIDNF NQQKKKLGGQ DIFMTEEQKK YYNAMKKLGS KKPQKPIPRP 
GNKIQGCIFD LVTNQAFDIS IMVLICLNMV TMMVEKEGQS QHMTEVLYWI NVVFIILFTG 
ECVLKLISLR HYYFTVGWNI FDFVVVIISI VGMFLADLIE TYFVSPTLFR VIRLARIGRI 
LRLVKGAKGI RTLLFALMMS LPALFNIGLL LFLVMFIYAI FGMSNFAYVK KEDGINDMFN 
FETFGNSMIC LFQITTSAGW DGLLAPILNS KPPDCDPKKV HPGSSVEGDC GNPSVGIFYF 
VSYIIISFLV VVNMYIAVIL ENFSVATEES TEPLSEDDFE MFYEVWEKFD PDATQFIEFS 
KLSDFAAALD PPLLIAKPNK VQLIAMDLPM VSGDRIHCLD ILFAFTKRVL GESGEMDSLR 
SQMEERFMSA NPSKVSYEPI TTTLKRKQED VSATVIQRAY RRYRLRQNVK NISSIYIKDG 
DRDDDLLNKK DMAFDNVNEN SSPEKTDATS STTSPPSYDS VTKPDKEKYE QDRTEKEDKG 
KDSKESKK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.