BICD2 wt Allele

Preferred Label : BICD2 wt Allele;

NCIt synonyms : Bicaudal D Homolog 2 (Drosophila) Gene; SMALED2; bA526D8.1; SMALED2A; SMALED2B; BICD Cargo Adaptor 2 wt Allele; Homolog of Drosophila Bicaudal D Gene; KIAA0699; Bicaudal D Homolog 2 Gene; Bicaudal D, Drosophila, Homolog of, 2 Gene;

NCIt definition : Human BICD2 wild-type allele is located in the vicinity of 9q22.31 and is approximately 53 kb in length. This allele, which encodes protein bicaudal D homolog 2 protein, plays a role in intracellular molecular trafficking. Mutation of the gene is associated with autosomal dominant lower extremity-predominant spinal muscular atrophy types 2A and 2B.;

NCI Metathesaurus CUI : CL1912901;

GenBank Accession Number : AB014599;

Details

Origin ID

C192725;

UMLS CUI

C5781377;

Automatic exact mappings (from CISMeF team)
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
OMIM relation
- Bicd cargo adaptor 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q22.31 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Microtubule Process [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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