Histone-Lysine N-Methyltransferase 2A

Preferred Label : Histone-Lysine N-Methyltransferase 2A;

NCIt synonyms : ALL-1 Protein; MLL Protein; MLL; CXXC-Type Zinc Finger Protein 7; ALL-1; Lysine N-Methyltransferase 2A; HRX Protein; Zinc Finger Protein HRX; KMT2A; EC 2.1.1.43; Trithorax-Like Protein; Myeloid/Lymphoid or Mixed-Lineage Leukemia Protein 1; Histone-Lysine N-Methyltransferase MLL; Myeloid/Lymphoid or Mixed-Lineage Leukemia;

NCIt definition : Histone-lysine N-methyltransferase 2A (3969 aa, 432 kDa) is encoded by the human KMT2A gene. This protein is involved in both histone modification and transcriptional activation.;

Details

Origin ID

C17595;

UMLS CUI

C1527868;

Automatic exact mappings (from CISMeF team)
- Leukemia, acute lymphoblastic [OMIM Phenotype]
- Lysine-specific methyltransferase 2a [OMIM gene]
- Lysine-specific methyltransferase 2a [OMIM Phenotype]
- MLLT6, PHD finger containing [HGNC gene]
- Microliter/milliliter (qualifier value) [SNOMED CT concept]
- lysine methyltransferase 2A [ORDO Gene]
- lysine methyltransferase 2A [HGNC gene]
- myeloid-lymphoid leukemia protein [MeSH Descriptor]
OMIM relation
- Lysine-specific methyltransferase 2a [OMIM Phenotype]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- KMT2A protein, human [MeSH concept]
- KMT2A protein, human [MeSH Supplementary Concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- KMT2A Gene [NCIt concept]
- Methyltransferase Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_biochemical_function
- DNA Binding Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- AT Hook Motif [NCIt concept]
- Bromodomain [NCIt concept]
- PHD Finger [NCIt concept]
- SET Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Lysine Degradation Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Hematopoietic Process [NCIt concept]
- Histone Methylation [NCIt concept]
- Methylation [NCIt concept]
- Transcriptional Regulation [NCIt concept]
is_target
- Revumenib [NCIt concept]
- Ziftomenib [NCIt concept]

Keyword's position in hierarchy(ies) :

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