SMN2 wt Allele

Preferred Label : SMN2 wt Allele;

NCIt synonyms : BCD541; SMNC; Survival of Motor Neuron, Centromeric Copy Gene; C-BCD541; TDRD16B; GEMIN1; Survival of Motor Neuron 2, Centromeric wt Allele; Tudor Domain Containing 16B Gene;

NCIt definition : Human SMN2 wild-type allele is located in the vicinity of 5q13.2 and is approximately 29 kb in length. This allele, which encodes survival motor neuron protein, is involved in the assembly of small nuclear ribonucleoproteins. Mutation of the gene is associated with sporadic adult-onset lower motor neuron disease (LMND) and a modified form of spinal muscular atrophy type 3.;

NCIt note : The SMN2 gene is part of a 500 kb inverted duplication on chromosome 5q13. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. (EntrezGene);

NCI Metathesaurus CUI : CL509024;

GenBank Accession Number : NM_017411;

Details

Origin ID

C127869;

UMLS CUI

C4283919;

Automatic exact mappings (from CISMeF team)
- Survival of motor neuron 2 [OMIM gene]
- survival of motor neuron 1, telomeric [ORDO Gene]
- survival of motor neuron 1, telomeric [HGNC gene]
- survival of motor neuron 2, centromeric [ORDO Gene]
OMIM relation
- Survival of motor neuron 2 [OMIM gene]
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_plays_role_in_process
- Protein-Protein Interaction [NCIt concept]
- RNA Splicing [NCIt concept]

Keyword's position in hierarchy(ies) :

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