SCN5A wt Allele

Preferred Label : SCN5A wt Allele;

NCIt synonyms : CDCD2; HH1; HB1; HB2; IVF; ICCD; HBBD; Sodium Voltage-Gated Channel Alpha Subunit 5 wt Allele; VF1; PFHB1; Sodium Channel, Voltage-Gated, Type V, Alpha Subunit Gene; CMD1E; CMPD2; Nav1.5; Sodium Channel, Voltage-Gated, Type V, Alpha (Long QT Syndrome 3) Gene; SSS1; LQT3; Sodium Channel, Voltage Gated, Type V Alpha Subunit Gene;

NCIt definition : Human SCN5A wild-type allele is located in the vicinity of 3p21 and is approximately 102 kb in length. This allele, which encodes sodium channel protein type 5 subunit alpha protein, plays a role in voltage-dependent sodium transport. Mutation of the gene is associated with long QT syndrome-3, sick sinus syndrome 1, Brugada syndrome 1, familial atrial fibrillation 10, familial ventricular fibrillation 1, dialated cardiomyopathy 1E, progressive heart block type 1A and non-progressive heart block.;

NCI Metathesaurus CUI : CL514365;

GenBank Accession Number : AJ310893;

Details

Origin ID

C131567;

UMLS CUI

C4321334;

Automatic exact mappings (from CISMeF team)
- Cardiomyopathy, dilated, 1e [OMIM Phenotype]
- Hypogonadotropic hypogonadism 1 with or without anosmia [OMIM Phenotype]
- Keratin 81, type II [OMIM gene]
- Keratin 82, type II [OMIM gene]
- Progressive familial heart block, type ia [OMIM Phenotype]
- Sick sinus syndrome 1 [OMIM Phenotype]
- Sodium voltage-gated channel, alpha subunit 5 [OMIM gene]
- Test tube ovum fertilization (procedure) [SNOMED CT concept]
- Ventricular fibrillation, paroxysmal familial, 1 [OMIM Phenotype]
- assisted reproductive technology [MedlinePlus Topic]
- dilated cardiomyopathy 1E [DO Concept]
- fertilization in vitro [MeSH Descriptor]
- immunodeficiency virus, feline [MeSH Descriptor]
- long QT syndrome 3 [DO Concept]
- sodium voltage-gated channel alpha subunit 5 [ORDO Gene]
- troponin T2, cardiac type [ORDO Gene]
OMIM relation
- Sodium voltage-gated channel, alpha subunit 5 [OMIM gene]
See also inter- (CISMeF)
- Long qt syndrome 3 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p21 [NCIt concept]
gene_plays_role_in_process
- Cardiac Muscle Contraction [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [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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