Preferred Label : NFKB2 wt Allele;
NCIt synonyms : LYT10; p52; LYT-10; H2TF1; p100; Nuclear Factor of Kappa Light Chain Gene Enhancer in B-cells 2 Gene; CVID10; NF-kB2; p49/p100; Nuclear Factor of Kappa Light Polypeptide Gene Enhancer in B-Cells 2 (p49/p100) Gene; Nuclear Factor Kappa B Subunit 2 wt Allele;
NCIt definition : Human NFKB2 wild-type allele is located in the vicinity of 10q24 and is approximately
8 kb in length. This allele, which encodes nuclear factor NF-kappa-B p100 subunit
protein, is involved in the modulation of transcription by RNA polymerase II. A variety
of leukemias and lymphomas are associated with translocations t(10;14)(q24;q11) of
the gene and the T-cell receptor alpha or delta locus, or t(10;14)(q24;q32) of this
gene and the IGHA1 locus.;
NCIt note : The NFKB2 gene product can be processed to yield three different polypeptides, designated
p100, p52 and p49. The unprocessed p100 polypeptide is a minor form that facilitates
cytoplasmic retention of complexed NF-kappa-B proteins. In a regulated cotranslational
event, processing of p100 yields the predominant polypeptide p52, which translocates
to the nucleus and binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located
in the enhancer region of genes involved in the immune response and acute phase reactions.
The p100 polypeptide can be alternatively processed to yield the p49 polypeptide,
which also is found in NF-kappa-B protein complexes, and which stimulates the HIV
enhancer in synergy with the RELA gene product, transcription factor p65 (GeneCards).;
GenBank Accession Number : NM_002502;
Origin ID : C53098;
UMLS CUI : C1704849;
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_is_element_in_pathway
- gene_plays_role_in_process
