TBP wt Allele - CISMeF

Preferred Label : TBP wt Allele;

NCIt synonyms : TATA Box Binding Protein Gene; GTF2D; SCA17; TATA Sequence-Binding Protein wt Allele; GTF2D1; TBP;

NCIt definition : Human TBP wild-type allele is located in the vicinity of 6q27 and is approximately 18 kb in length. This allele, which encodes TATA-box-binding protein, is involved in the mediation of transcription. Mutations that expand the number of CAG nucleotide repeats in the gene are associated with spinocerebellar ataxia 17.;

GenBank Accession Number : NM_003194;

Details

Origin ID

C52514;

UMLS CUI

C1705304;

OMIM relation
- Tata box-binding protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6q27 [NCIt concept]
gene_is_element_in_pathway
- Chromatin Remodeling Complex and Coactivator Pathway [NCIt concept]
- Estrogen Receptor Regulation by CARM1 Pathway [NCIt concept]
- Hypoxia Pathway [NCIt concept]
- RNA Polymerase III Transcription Pathway [NCIt concept]
- hSWI-SNF Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Transcription [NCIt concept]
- Transcription Initiation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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