POLR1D wt Allele

Preferred Label : POLR1D wt Allele;

NCIt synonyms : TCS2; RNA Polymerase I and III Subunit D wt Allele; RPAC2; Polymerase (RNA) I Subunit D Gene; RPA9; POLR1C; RNA Polymerase A, 16-kD, Mouse, Homolog of Gene; MGC9850; Polymerase I, RNA, Subunit D Gene; RPO1-3; Retinitis Pigmentosa 25 (Autosomal Recessive) Gene; RPA16; Polymerase (RNA) I Polypeptide D, 16kDa Gene; AC19; RPC16;

NCIt definition : Human POLR1D wild-type allele is located in the vicinity of 13q12.2 and is approximately 123 kb in length. This allele, which encodes DNA-directed RNA polymerases I and III subunit RPAC2 protein, is involved in RNA polymerase I- and III-dependent transcription of rRNA and other small RNAs. Mutation of the gene is associated with Treacher Collins syndrome 2.;

NCI Metathesaurus CUI : CL1772917;

GenBank Accession Number : AF077044;

Details

Origin ID

C184974;

UMLS CUI

C5575292;

Automatic exact mappings (from CISMeF team)
- Polymerase I, rna, subunit C [OMIM gene]
- Polymerase I, rna, subunit D [OMIM gene]
- RNA polymerase I and III subunit D [ORDO Gene]
- Treacher collins syndrome 2 [OMIM Phenotype]
OMIM relation
- Polymerase I, rna, subunit D [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Cytosolic DNA-Sensing Pathway [NCIt concept]
- RNA Polymerase Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- RNA Synthesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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