Alt. symbols: NFKB3 | p65

Approved name: RELA proto-oncogene, NF-kB subunit
Alt. names: nuclear factor of kappa light polypeptide gene enhancer in B-cells 3, v-rel avian reticuloendotheliosis viral oncogene homolog A

Location: 11q13.1: 65653599 - 65663090 (-)
Gene type: protein_coding, 26 transcripts.

Scores: LoFtool: 0.248000 | pLI: 0.99882847 | LOEUF: 0.181

HGNC: 9955

NCBI: 5970, RefSeq: NG_029971.1

Ensembl: ENSG00000173039.20

LRG_ | Status: none

OMIM: 164014

Expression | ProteinAtlas

RELA encodes the NF-kB p65 subunit. NF-kB is a homo- or heterodimeric complex composed of p50/p105 (NFKB1) or p52 (NFKB2) bound to either REL, p65 (RELA), or RELB. The most abundant form of NF-kB is p50 complexed with p65. p65 is involved in NF-kB heterodimer formation, nuclear translocation and activation. The NF-kB complex is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. Different dimer combinations act as transcriptional activators or repressors, respectively. The NF-kB heterodimeric p65-p50 and p65-REL complexes, for instance, function as transcriptional activators.

Monoallelic RELA pathogenic variants, resulting in haploinsufficiency of the NF-kB subunit RelA (p65), have now been identified in at least 9 patients from 4 kindreds (PMID: 28600438, 26178921, 29305315, 35412596). Acute flares are notable for fevers, leukocytosis, and elevated inflammatory markers, whereas both adaptive and innate immunophenotypic findings may be highly variable and often unremarkable. In keeping with their shared pathophysiology, the clinical spectrum resembles that of HA20/Be hcet’s-like features with IBD and aphthous ulcers and may range from chronic mucocutaneous ulcerations to SLE to autoimmune lymphoproliferative syndrome (ALPS)-like disease. See Clinical info for details. [Load More]