CTCF wt Allele

Preferred Label : CTCF wt Allele;

NCIt synonyms : MRD21; CCCTC-Binding Factor (Zinc Finger Protein) wt Allele;

NCIt definition : Human CTCF is located within 16q21-22.3 and is approximately 77 kb in length. This allele, which encodes transcriptional repressor CTCF protein, may play a role in transcriptional repression and establishment of heterochromatin boundaries.;

GenBank Accession Number : NM_006565;

Détails

Origin ID

C73680;

UMLS CUI

C2347542;

Automatic exact mappings (from CISMeF team)
- Intellectual developmental disorder, autosomal dominant 21 [OMIM Phenotype]
- autosomal dominant non-syndromic intellectual disability 21 [DO Concept]
OMIM relation
- Ccctc-binding factor [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_in_chromosomal_location
- 16q21-q22.3 [NCIt concept]
gene_is_element_in_pathway
- CTCF Pathway [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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