MAML2 wt Allele

Preferred Label : MAML2 wt Allele;

NCIt synonyms : MAM-3; MAM2; MGC176701; DKFZp686N0150; MLL-MAML2; KIAA1819; MAM3; Mastermind-Like 2 (Drosophila) wt Allele;

NCIt definition : Human MAML2 wild-type allele is located in the vicinity of 11q21 and is approximately 365 kb in length. This allele, which encodes mastermind-like protein 2, is involved in the modulation of Notch signaling-dependent gene expression. A translocation t(11;19)(q21;p13) involving this gene and the CRTC1 gene is associated with mucoepidermoid carcinomas, benign Warthin tumors and clear cell hidradenomas.;

GenBank Accession Number : AB058722;

Details

Origin ID

C95457;

UMLS CUI

C2987159;

OMIM relation
- Mastermind-like 2 [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_is_element_in_pathway
- Notch Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Signal Transduction [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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