NUP214 wt Allele

Preferred Label : NUP214 wt Allele;

NCIt synonyms : CAN; KIAA0023; CAIN; D9S46E; Nucleoporin 214kDa Gene; N214; NUP214; CAN Protein, Putative Oncogene; Nucleoporin, 214-kD Gene; IIAE9;

NCIt definition : Human NUP214 wild-type allele is located in the vicinity of 9q34.1 and is approximately 108 kb in length. This allele, which encodes nuclear pore complex protein Nup214, plays a role in the regulation of nucleocytoplasmic transport and receptor-mediated nuclear import. The 3 prime portion of the gene can form a fusion construct with the DEK gene on chromosome 6 in a t(6,9) translocation. The translocation is associated with acute myeloid leukemia and myelodysplastic syndrome.;

GenBank Accession Number : NM_005085;

Details

Origin ID

C52288;

UMLS CUI

C1704852;

OMIM relation
- Nucleoporin, 214-kd [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_associated_with_disease
- Myelodysplastic Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q34.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with t(6;9)(p22.3;q34.1); DEK-NUP214 [NCIt concept]
gene_is_element_in_pathway
- Protein Import into Nucleus Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Progression [NCIt concept]
- Ligand Binding [NCIt concept]
- Nucleocytoplasmic Transport [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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