KMT2D wt Allele

Preferred Label : KMT2D wt Allele;

NCIt synonyms : AAD10; Myeloid/Lymphoid or Mixed-Lineage Leukemia 2 Gene; ALR; KMS; KABUK1; Lysine Methyltransferase 2D wt Allele; TNRC21; MLL2 wt Allele; CAGL114; MLL4; Lysine (K)-Specific Methyltransferase 2D Gene; MLL2;

NCIt definition : Human KMT2D wild-type allele is located within 12q12-q14 and is approximately 36 kb in length. This allele, which encodes histone-lysine N-methyltransferase 2D protein, is involved in an estrogen receptor alpha co-activation complex that is necessary for estrogen-induced gene expression.;

GenBank Accession Number : NM_003482;

Details

Origin ID

C54314;

UMLS CUI

C1704944;

OMIM relation
- Lysine-specific methyltransferase 2d [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_associated_with_disease
- Myeloid Leukemia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q12-q14 [NCIt concept]
gene_plays_role_in_process
- Histone Methylation [NCIt concept]
- Methylation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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