SH3GL1 wt Allele

Preferred Label : SH3GL1 wt Allele;

NCIt synonyms : Extra 11-19 Leukemia Fusion Gene; SH3D2B; CNSA1; SH3P8; SH3-Containing Protein EEN Gene; SH3-Domain GRB2-Like 1 wt Allele; EEN; MGC111371;

NCIt definition : Human SH3GL1 wild-type allele is located in the vicinity of 19p13.3 and is approximately 40 kb in length. This allele, which encodes endophilin-A2 protein, may play a role in both vesicle formation and endocytosis. A chromosomal translocation t(11;19)(q23;p13) of this gene and the MLL gene is associated with acute myeloid leukemia.;

GenBank Accession Number : NM_001199943;

Details

Origin ID

C97789;

UMLS CUI

C3273627;

OMIM relation
- Sh3 domain, grb2-like, 1 [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_in_chromosomal_location
- 19p13.3 [NCIt concept]
gene_is_element_in_pathway
- Endocytosis Pathway [NCIt concept]
gene_plays_role_in_process
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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