CEBPE wt Allele

Preferred Label : CEBPE wt Allele;

NCIt synonyms : IMD108; CCAAT/Enhancer Binding Protein (C/EBP), Epsilon wt Allele; CRP1; CCAAT/Enhancer-Binding Protein, Epsilon Gene; C/EBP-epsilon; SGD1;

NCIt definition : Human CEBPE wild-type allele is located in the vicinity of 14q11.2 and is approximately 2 kb in length. This allele, which encodes CCAAT/enhancer-binding protein epsilon, plays a role in transcriptional promotion. Mutant alleles are associated with specific granule deficiency.;

GenBank Accession Number : NM_001805;

Details

Origin ID

C52527;

UMLS CUI

C1706041;

OMIM relation
- Ccaat/enhancer-binding protein, epsilon [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_has_physical_location
- 14: 22658314-22656355 [NCIt concept]
gene_in_chromosomal_location
- 14q11.2 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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