Preferred Label : NUP98 wt Allele;
NCIt synonyms : ADAR2; Nucleoporin, 98-kD Gene; NUP96; ADIR2; NUP196; Nucleoporin 98kDa Gene; Nucleoporin 98 wt Allele;
NCIt definition : Human NUP98 wild-type allele is located in the vicinity of 11p15.5 and is approximately
123 kb in length. This allele, which encodes nuclear pore complex protein Nup98-Nup96
protein, is involved in the regulation of the nuclear pore complex and protein docking.
Translocations in several myeloid leukemias contain NUP98 fused to other genes; t(7;11)(p15;p15)
generates N-terminal NUP98 fused in-frame to HOXA9. Alterations in this region have
been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma,
adrenocortical carcinoma, and lung, ovarian, and breast cancer.;
NCIt note : Vesicular Stomatitis Virus M Protein targets NUP98. Translocations in several myeloid
leukemias fuse NUP98 to other genes; t(7;11)(p15;p15) generates N-terminal NUP98 fused
in-frame to HOXA9. Alterations to the 11p15.5 chromosomal region have been associated
with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical
carcinoma, and lung, ovarian, and breast cancer. 11p15.5 is thought to be a tumor-suppressor
gene region.;
GenBank Accession Number : NM_005387;
Origin ID : C52289;
UMLS CUI : C1704853;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_plays_role_in_process
