DNMT3B wt Allele

Preferred Label : DNMT3B wt Allele;

NCIt synonyms : DNA (Cytosine-5-)-Methyltransferase 3 Beta wt Allele; DNA MTase HsaIIIB Gene; DNA Methyltransferase 3B Gene; DNA Methyltransferase HsaIIIB Gene; M.HsaIIIB Gene; ICF Gene;

NCIt definition : Human DNMT3B wild-type allele is located in the vicinity of 20q11.2 and is approximately 47 kb in length. This allele, which encodes DNA (cytosine-5)-methyltransferase 3B protein, plays a role in de novo methylation. Certain allelic variants of the DNMT3B gene cause immunodeficiency-centromeric instability-facial anomalies syndrome.;

NCIt note : Expression is analyzed as part of the 17-gene leukemia stem cell scoring system (LSC17). (Nature. 2016; doi:10.1038/nature20598.);

GenBank Accession Number : NM_006892;

Details

Origin ID

C51045;

UMLS CUI

C1707617;

OMIM relation
- Dna methyltransferase 3b [OMIM gene]
See also inter- (CISMeF)
- DNA Methyltransferase 3B [MeSH Descriptor]
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
- 20: 30813852-30860823 [NCIt concept]
gene_in_chromosomal_location
- 20q11.2 [NCIt concept]
gene_is_element_in_pathway
- Cysteine and Methionine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Methylation [NCIt concept]
- Methylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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