RAPSN wt Allele

Preferred Label : RAPSN wt Allele;

NCIt synonyms : RNF205; Receptor-Associated Protein of the Synapse, 43kD Gene; Receptor-Associated Protein of the Synapse, 43-kD Gene; Receptor Associated Protein of the Synapse wt Allele; RAPSYN; FADS2; CMS11; FADS;

NCIt definition : Human RAPSN wild-type allele is located in the vicinity of 11p11.2 and is approximately 11 kb in length. This allele, which encodes 43 kDa receptor-associated protein of the synapse protein, is involved in nicotinic acetylcholine receptor clustering. Mutations in the gene are associated with fetal akinesia deformation sequence 2 and congenital myasthenic syndrome with acetylcholine receptor deficiency 11.;

NCI Metathesaurus CUI : CL1643450;

GenBank Accession Number : NM_005055;

Details

Origin ID

C177669;

UMLS CUI

C5443976;

Automatic exact mappings (from CISMeF team)
- Fatty acid desaturase 2 [OMIM gene]
- Fetal akinesia deformation sequence [ORDO Disease]
- Fetal akinesia deformation sequence 1 [OMIM Phenotype]
- Fetal akinesia deformation sequence 2 [OMIM Phenotype]
- Flavin adenine dinucleotide synthetase 1 [OMIM gene]
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency [OMIM Phenotype]
- Receptor-associated protein of the synapse, 43-kd [OMIM gene]
- congenital myasthenic syndrome 11 [DO Concept]
- fetal akinesia deformation sequence syndrome [DO Concept]
- fetal akinesia deformation sequence syndrome 2 [DO Concept]
- peripheral membrane protein 43K [MeSH Supplementary Concept]
- receptor associated protein of the synapse [HGNC gene]
- receptor associated protein of the synapse [ORDO Gene]
OMIM relation
- Receptor-associated protein of the synapse, 43-kd [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p11.2 [NCIt concept]
gene_plays_role_in_process
- Neuronal Transmission [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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