Histone-Lysine N-Methyltransferase SETD2

Preferred Label : Histone-Lysine N-Methyltransferase SETD2;

NCIt synonyms : Huntingtin-Interacting Protein 1; Huntingtin Interacting Protein 1; HIP-1; hSET2; p231HBP; Huntingtin-Binding Protein, 231-kD; EC 2.1.1.43; Huntingtin-Interacting Protein B; HIF-1; Huntingtin Yeast Partner B; SETD2; Lysine N-Methyltransferase 3A; SET Domain-Containing Protein 2; Protein-Lysine N-Methyltransferase SETD2;

NCIt definition : Histone-lysine methyltransferase SETD2 (2564 aa, 288 kDa) is encoded by the human SETD2 gene. This soluble, nuclear protein may play a role in epigenetic chromatin modification, and activation of transcription by RNA polymerase II.;

Details

Origin ID

C73696;

UMLS CUI

C1958958;

OMIM relation
- Set domain-containing protein 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- SETD2 protein, human [MeSH concept]
- SETD2 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]
- Methyltransferase Gene [NCIt concept]
- SETD2 Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_gene_product_variant
- SETD2 NP_054878.5:p.E1265 Frameshift [NCIt concept]
- SETD2 Protein Variant [NCIt concept]
gene_product_has_structural_domain_or_motif
- SET Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Chromatin Remodeling [NCIt concept]
- Histone Methylation [NCIt concept]
- Methylation [NCIt concept]
is_target
- SETD2 Inhibitor EZM0414 [NCIt concept]

Keyword's position in hierarchy(ies) :

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