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This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]
SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9) is a Protein Coding gene. Diseases associated with SCN9A include Paroxysmal Extreme Pain Disorder and Indifference To Pain, Congenital, Autosomal Recessive. Among its related pathways are Neuroscience and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include ion channel activity and sodium ion binding. An important paralog of this gene is SCN2A.
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.
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 | IEA,IDA | 17145499 |
GO:0005261 | cation channel activity | IBA | 21873635 |
GO:0005272 | sodium channel activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001518 | voltage-gated sodium channel complex | IEA,IBA | 21873635 |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0005887 | integral component of plasma membrane | IMP | 17145499 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
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 |
.51
|
|
4 | Cardiac conduction | ||
5 | Neuroscience |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006814 | sodium ion transport | IEA,TAS | 7720699 |
GO:0006954 | inflammatory response | IEA | -- |
GO:0009636 | response to toxic substance | IEA | -- |
GO:0009791 | post-embryonic development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Lacosamide | Approved | Pharma | Target | Checkpoint kinase inhibitor,ATP competitive, Checkpoint kinase (Chk) inhibitor | 90 | |
Lidocaine | Approved, Vet_approved | Pharma | Pore Blocker, Antagonist, Target, inhibitor, blocker | Anasthetic and class Ib antiarrhythmic agent | 2111 | |
Ranolazine | Approved, Investigational | Pharma | Target, inhibitor, blocker | 85 | ||
Zonisamide | Approved, Investigational | Pharma | Target, inhibitor, blocker | Antiepileptic with anticonvulsant and mechanistic effect | 74 | |
Carbamazepine | Approved, Investigational | Pharma | Target, inhibitor | Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant | 104 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
sodium |
|
7440-23-5 | ||||
Amiloride hydrochloride |
|
2016-88-8 |
|
|
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 |
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 | |
GX-674 | Nav1.7 antagonist | |
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 | |
Ranolazine 2HCl | Partial fatty acid oxidation inhibitor | 95635-56-6 |
Tolperisone HCl | 3644-61-9 | |
Triamterene | 396-01-0 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SCN9A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SCN9A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SCN9A 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Scn9a 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Scn9a 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SCN9A 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SCN9A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SCN9A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SCN9A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | scn2a 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | scn1lab 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | NaCP60E 32 |
|
|
|
NaCP37B 32 |
|
|
|||
para 32 |
|
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
634586 | Likely Pathogenic: Hereditary sensory and autonomic neuropathy type IIA | 166,306,980(-) | ATTC/A | INFRAME_DELETION | |
6354 | Pathogenic: Indifference to pain, congenital, autosomal recessive | 166,280,368(-) | TA/T | FRAMESHIFT_VARIANT | |
637054 | Uncertain Significance: Generalized epilepsy with febrile seizures plus, type 7; Hereditary sensory and autonomic neuropathy type IIA; Epilepsy | 166,307,005(-) | A/G | MISSENSE_VARIANT | |
637861 | Uncertain Significance: Generalized epilepsy with febrile seizures plus, type 7; Charcot-Marie-Tooth disease; Hereditary sensory and autonomic neuropathy type IIA | 166,204,100(-) | C/T | MISSENSE_VARIANT | |
639009 | Uncertain Significance: Generalized epilepsy with febrile seizures plus, type 7; Hereditary sensory and autonomic neuropathy type IIA | 166,284,551(-) | C/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1764654 | CNV | deletion | 17803354 |
esv2127014 | CNV | deletion | 18987734 |
esv23265 | CNV | loss | 19812545 |
esv2658860 | CNV | deletion | 23128226 |
esv2666983 | CNV | deletion | 23128226 |
esv2721082 | CNV | deletion | 23290073 |
esv2721083 | CNV | deletion | 23290073 |
esv3593247 | CNV | loss | 21293372 |
nsv1071633 | CNV | deletion | 25765185 |
nsv1136433 | CNV | deletion | 24896259 |
nsv1136434 | CNV | deletion | 24896259 |
nsv459937 | CNV | loss | 19166990 |
nsv507046 | OTHER | sequence alteration | 20534489 |
nsv583585 | CNV | loss | 21841781 |
nsv834448 | CNV | loss | 17160897 |
nsv961905 | CNV | duplication | 23825009 |
nsv961906 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
paroxysmal extreme pain disorder |
|
|
indifference to pain, congenital, autosomal recessive |
|
|
erythermalgia, primary |
|
|
generalized epilepsy with febrile seizures plus, type 7 |
|
|
epileptic encephalopathy, early infantile, 6 |
|
|