MAML3 wt Allele

Preferred Label : MAML3 wt Allele;

NCIt synonyms : GDN; Trinucleotide Repeat Containing 3 Gene; CAGH3; Mastermind-Like 3 (Drosophila) wt Allele; MAM2; MAM-2; Mastermind (Drosophila)-Like 3 Gene; CAG Repeat Domain Gene; TNRC3; ERDA3; CAG Repeat Containing (Glia-Derived Nexin I Alpha) Gene; KIAA1816;

NCIt definition : Human MAML3 wild-type allele is located in the vicinity of 4q31.1 and is approximately 438 kb in length. This allele, which encodes mastermind-like protein 3, is involved in both Notch signaling and transcriptional regulation.;

NCIt note : A chromosomal aberration t(2;4)(q35;q31.1) has been identified that results in the fusion of the PAX3 gene with the MAML3 gene in association with biphenotypic sinonasal sarcoma. (Nature Genetics. 2014; 46: 666-668. doi: 10.1038/ng.2989.);

GenBank Accession Number : AB058719;

PubMed : 24859338;

Details

Origin ID

C117095;

UMLS CUI

C3890209;

Automatic exact mappings (from CISMeF team)
- Mastermind-like 3 [OMIM gene]
OMIM relation
- Mastermind-like 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4q31.1 [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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