REL

Chr 2

REL proto-oncogene, NF-kB subunit

Also known as: C-Rel, HIVEN86A, IMD92

NCBI Gene: 5966 ENSG00000162924 UniProt: Q04864

The REL protein functions as a component of NF-kappa-B transcription factor complexes that regulate genes involved in immunity, inflammation, differentiation, and apoptosis, with particular importance for B lymphocyte survival and proliferation. Loss-of-function mutations cause autosomal recessive immunodeficiency 92, likely through impaired NF-kappa-B signaling critical for immune system function. The inheritance pattern is autosomal recessive with pathogenicity resulting from loss of normal protein function.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 92

Clinical highlights

Gene-disease validity (ClinGen)

immunodeficiency 92 · ARModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

358

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.23

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)