SCN9A wt Allele

Preferred Label : SCN9A wt Allele;

NCIt synonyms : Sodium Channel, Voltage-Gated, Type IX, Alpha Polypeptide Gene; PN1; Sodium Channel, Voltage Gated, Type IX, Alpha Subunit Gene; Sodium Voltage-Gated Channel Alpha Subunit 9 wt Allele; NE-NA; HSAN2D; Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Gene; GEFSP7; FEB3B; SFNP; Nav1.7; ETHA; NENA;

NCIt definition : Human SCN9A wild-type allele is located in the vicinity of 2q24 and is approximately 181 kb in length. This allele, which encodes sodium channel protein type 9 subunit alpha protein, plays a role in sodium transport. Mutation of the gene is associated with several pain and seizure disorders.;

NCIt note : Mutation of the SCN9A gene is associated with: generalized epilepsy, with febrile seizures plus, type 7; primary erythermalgia; familial febrile seizures type 3B; channelopathy-associated insensitivity to pain; paroxysmal extreme pain disorder; and small fiber neuropathy. (OMIM);

GenBank Accession Number : X82835;

Details

Origin ID

C114811;

UMLS CUI

C3889284;

Automatic exact mappings (from CISMeF team)
- Erythermalgia, primary [OMIM Phenotype]
- Generalized epilepsy with febrile seizures plus, type 7 [OMIM Phenotype]
- Indifference to pain, congenital, autosomal recessive [OMIM Phenotype]
- Serpin peptidase inhibitor, clade e (nexin, plasminogen activator inhibitor type 1), member 2 [OMIM gene]
- Sodium voltage-gated channel, alpha subunit 9 [OMIM gene]
- generalized epilepsy with febrile seizures plus 7 [DO Concept]
- sodium voltage-gated channel alpha subunit 9 [ORDO Gene]
OMIM relation
- Sodium voltage-gated channel, alpha subunit 9 [OMIM gene]
See also inter- (CISMeF)
- generalized epilepsy with febrile seizures plus, 7 [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Taste Transduction Pathway [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Perception [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Voltage-Gated Sodium Ion Channel Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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