SNRPD3 wt Allele

Preferred Label : SNRPD3 wt Allele;

NCIt synonyms : Small Nuclear Ribonucleoprotein D3 Polypeptide 18kDa Gene; Small Nuclear Ribonucleoprotein D3 Polypeptide (18kD) Gene; Sm-D3; Small Nuclear Ribonucleoprotein D3 Polypeptide wt Allele; SMD3;

NCIt definition : Human SNRPD3 wild-type allele is located in the vicinity of 22q11.23 and is approximately 54 kb in length. This allele, which encodes small nuclear ribonucleoprotein Sm D3 protein, is involved in spliceosome activity.;

NCIt note : Mutations in the SNRPD3 gene may be associated with lung adenocarcinoma. (Nature Genetics. 2016; 48:607-616);

NCI Metathesaurus CUI : CL521140;

GenBank Accession Number : U15009;

Details

Origin ID

C132041;

UMLS CUI

C4321473;

OMIM relation
- Small nuclear ribonucleoprotein polypeptide d3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q11.23 [NCIt concept]
gene_is_element_in_pathway
- Spliceosome Assembly Pathway [NCIt concept]
- Spliceosome Pathway [NCIt concept]
- Systemic Lupus Erythematosus Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Splicing [NCIt concept]
- snRNP Biogenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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