CBFB wt Allele

Preferred Label : CBFB wt Allele;

NCIt synonyms : PEBP2B; Core-Binding Factor Subunit Beta wt Allele; CBF-Beta Gene; CBFB; Polyomavirus Enhancer Binding Protein 2, Beta Subunit Gene; Core-Binding Factor, Beta Subunit Gene;

NCIt definition : Human CBFB wild-type allele is located in the vicinity of 16q22.1 and is approximately 72 kb in length. This allele, which encodes core-binding factor subunit beta protein, plays a role in the mediation of transcription. Acute myeloid leukemia of the M4Eo subtype is linked to the occurrence of a chromosomal inversion inv(16)(p13;q22), which fuses this gene to the MYH11 gene.;

NCIt note : Alternative splicing of the CBFB gene generates two mRNA variants, each encoding a distinct carboxyl terminus. (Entrez Gene);

GenBank Accession Number : NM_001755;

Détails

Origin ID

C52523;

UMLS CUI

C1705067;

OMIM relation
- Core-binding factor, beta subunit [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
- 16: 65620551-65692462 [NCIt concept]
gene_in_chromosomal_location
- 16q22 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 [NCIt concept]
- Acute Myelomonocytic Leukemia with Abnormal Eosinophils [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Hematopoietic Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

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

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